| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
| MONDO:0958392 |
reactive arthritis : ankle and foot |
icd11.foundation:1006415661 |
MONDO:equivalentTo |
Reactive arthritis : ankle and foot |
|
|
| MONDO:0958458 |
reactive arthritis : forearm |
icd11.foundation:1019178054 |
MONDO:equivalentTo |
Reactive arthritis : forearm |
|
|
| MONDO:0958692 |
intraspinal abscess |
icd11.foundation:1060669448 |
MONDO:equivalentTo |
Intraspinal abscess |
A condition of the spine, caused by an infection with a bacterial, viral, or fungal source. This condition is characterized by a focal accumulation of purulent material within the spine (spinal cord, column, dural space, and the spinal meninges). |
|
| MONDO:0959067 |
squamous cell carcinoma of unspecified urinary organ |
icd11.foundation:113061321 |
MONDO:equivalentTo |
Squamous cell carcinoma of unspecified urinary organ |
|
|
| MONDO:0959114 |
other specified malignant neoplasms of vallecula |
icd11.foundation:1141849774 |
MONDO:equivalentTo |
Other specified malignant neoplasms of vallecula |
|
|
| MONDO:0959119 |
carcinoma, intestinal type, unspecified site |
icd11.foundation:1142793 |
MONDO:equivalentTo |
Carcinoma, intestinal type, unspecified site |
|
|
| MONDO:0959278 |
male hypoactive sexual desire dysfunction, acquired, situational |
icd11.foundation:1167159036 |
MONDO:equivalentTo |
Male hypoactive sexual desire dysfunction, acquired, situational |
The onset of male hypoactive sexual desire dysfunction has followed a period of time during which the person did not experience it and the desired response is currently absent or diminished in some circumstances, with some partners, or in response to some stimuli, but not in other situations. |
|
| MONDO:0959295 |
other keratoconjunctivitis |
icd11.foundation:1169646518 |
MONDO:equivalentTo |
Other keratoconjunctivitis |
|
|
| MONDO:0959356 |
reactive arthritis : other |
icd11.foundation:1184217711 |
MONDO:equivalentTo |
Reactive arthritis : other |
|
|
| MONDO:0959383 |
rheumatoid arthritis, unspecified, rheumatoid factor positive |
icd11.foundation:1189260062 |
MONDO:equivalentTo |
Rheumatoid arthritis, unspecified, rheumatoid factor positive |
|
|
| MONDO:0959487 |
reactive arthritis : multiple sites |
icd11.foundation:1209154745 |
MONDO:equivalentTo |
Reactive arthritis : multiple sites |
|
|
| MONDO:0959722 |
acute pancreatitis, unspecified, with local and systemic complication |
icd11.foundation:1257698843 |
MONDO:equivalentTo |
Acute pancreatitis, unspecified, with local and systemic complication |
This is an inflammation of the pancreas with sudden onset that includes complications associated with the pancreas and those affecting the body more generally. |
|
| MONDO:0959786 |
rheumatoid arthritis, unspecified, anti-citrullinated protein antibody positive |
icd11.foundation:1269947647 |
MONDO:equivalentTo |
Rheumatoid arthritis, unspecified, anti-citrullinated protein antibody positive |
|
|
| MONDO:0959793 |
bacterial toxin-mediated acral and perineal exanthem |
icd11.foundation:1272002051 |
MONDO:equivalentTo |
Bacterial toxin-mediated acral and perineal exanthem |
Erythema and desquamation affecting preferentially the hands, feet and perineal area in response to distant streptococcal or, less commonly, staphylococcal infection. It is thought to be mediated by toxins, which have been isolated from bacterial strains recovered from affected patients. It appears to be more common in children and young adults and may be recurrent. |
|
| MONDO:0959851 |
phlyctenular keratoconjunctivitis |
icd11.foundation:1282614793 |
MONDO:equivalentTo |
Phlyctenular keratoconjunctivitis |
|
|
| MONDO:0959861 |
focal chorioretinal inflammation, juxtapapillary |
icd11.foundation:1284665924 |
MONDO:equivalentTo |
Focal chorioretinal inflammation, juxtapapillary |
|
|
| MONDO:0959888 |
other mitral valve diseases |
icd11.foundation:128855412 |
MONDO:equivalentTo |
Other mitral valve diseases |
|
|
| MONDO:0959909 |
urothelial carcinoma of unspecified urinary organ |
icd11.foundation:1292459358 |
MONDO:equivalentTo |
Urothelial carcinoma of unspecified urinary organ |
|
|
| MONDO:0959919 |
beta thalassemia with associated disease |
icd11.foundation:129385643 |
MONDO:equivalentTo |
Beta thalassemia with associated disease |
Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder. These forms of beta-thalassemia are beta-thalassemia - trichothiodystrophy and beta-thalassemia - X-linked thrombocytopenia. |
|
| MONDO:0959926 |
other secondary myopathy, not elsewhere classified |
icd11.foundation:1295198382 |
MONDO:equivalentTo |
Other secondary myopathy, not elsewhere classified |
Other secondary myopathy, not elsewhere classified is a muscle disease that occur in the context of another, usually systemic disorder that is not classified among the known causes of secondary myopathy. |
|
| MONDO:0960136 |
reactive arthritis : hand |
icd11.foundation:1330773970 |
MONDO:equivalentTo |
Reactive arthritis : hand |
|
|
| MONDO:0960314 |
other specified malignant neoplasms of lateral wall of oropharynx |
icd11.foundation:1361038775 |
MONDO:equivalentTo |
Other specified malignant neoplasms of lateral wall of oropharynx |
|
|
| MONDO:0960496 |
tremulous tongue due to hyperthyroidism |
icd11.foundation:139110942 |
MONDO:equivalentTo |
Tremulous tongue due to hyperthyroidism |
|
|
| MONDO:0960590 |
rheumatoid arthritis, unspecified, serology not specified |
icd11.foundation:1410564379 |
MONDO:equivalentTo |
Rheumatoid arthritis, unspecified, serology not specified |
|
|
| MONDO:0960811 |
other specified malignant neoplasms of branchial cleft |
icd11.foundation:1454355589 |
MONDO:equivalentTo |
Other specified malignant neoplasms of branchial cleft |
|
|
| MONDO:0960894 |
acute pancreatitis, unspecified, with local complication |
icd11.foundation:1470353796 |
MONDO:equivalentTo |
Acute pancreatitis, unspecified, with local complication |
This is a sudden and acute inflammation of the pancreas, unspecified, with systemic complication. |
|
| MONDO:0960958 |
schizophrenia, catatonic type, withdrawn |
icd11.foundation:1481662450 |
MONDO:equivalentTo |
Schizophrenia, catatonic type, withdrawn |
|
|
| MONDO:0961039 |
rheumatoid arthritis, unspecified, serology negative |
icd11.foundation:1497429754 |
MONDO:equivalentTo |
Rheumatoid arthritis, unspecified, serology negative |
|
|
| MONDO:0961107 |
reactive arthritis : upper arm |
icd11.foundation:1509204436 |
MONDO:equivalentTo |
Reactive arthritis : upper arm |
|
|
| MONDO:0961210 |
spinal stenosis, multiple sites in spine |
icd11.foundation:1528833617 |
MONDO:equivalentTo |
Spinal stenosis, multiple sites in spine |
|
|
| MONDO:0961245 |
acute pancreatitis, unspecified, with systemic complication |
icd11.foundation:1535251448 |
MONDO:equivalentTo |
Acute pancreatitis, unspecified, with systemic complication |
This is a sudden and acute inflammation of the pancreas, unspecified, with abscess. |
|
| MONDO:0961432 |
focal chorioretinal inflammation, peripheral |
icd11.foundation:1567944489 |
MONDO:equivalentTo |
Focal chorioretinal inflammation, peripheral |
|
|
| MONDO:0961558 |
reactive arthritis : lower leg |
icd11.foundation:1589076665 |
MONDO:equivalentTo |
Reactive arthritis : lower leg |
|
|
| MONDO:0961594 |
male hypoactive sexual desire dysfunction, acquired, generalised |
icd11.foundation:1594500962 |
MONDO:equivalentTo |
Male hypoactive sexual desire dysfunction, acquired, generalised |
The onset of male hypoactive sexual desire dysfunction has followed a period of time during which the person did not experience it and the desired response is currently absent or diminished in all circumstances, including masturbation. |
|
| MONDO:0961965 |
mitral valve disease, unspecified |
icd11.foundation:1659232486 |
MONDO:equivalentTo |
Mitral valve disease, unspecified |
|
|
| MONDO:0962108 |
schizophrenia, catatonic type, excited |
icd11.foundation:1684234365 |
MONDO:equivalentTo |
Schizophrenia, catatonic type, excited |
|
|
| MONDO:0962248 |
abnormal results of function studies |
icd11.foundation:1712433271 |
MONDO:equivalentTo |
Abnormal results of function studies |
|
|
| MONDO:0962276 |
other acute pancreatitis, with local complication |
icd11.foundation:1716940267 |
MONDO:equivalentTo |
Other acute pancreatitis, with local complication |
This is a sudden and acute inflammation of the pancreas, with abscess. |
|
| MONDO:0962301 |
other specified malignant neoplasms of anterior surface of epiglottis |
icd11.foundation:1720511689 |
MONDO:equivalentTo |
Other specified malignant neoplasms of anterior surface of epiglottis |
|
|
| MONDO:0962621 |
carcinoma, diffuse type, unspecified site |
icd11.foundation:178050917 |
MONDO:equivalentTo |
Carcinoma, diffuse type, unspecified site |
|
|
| MONDO:0962624 |
malignant neoplasm of bone and articular cartilage of other and unspecified sites of unknown or unspecified type |
icd11.foundation:1780870112 |
MONDO:equivalentTo |
Malignant neoplasm of bone and articular cartilage of other and unspecified sites of unknown or unspecified type |
|
|
| MONDO:0962705 |
disseminated chorioretinal inflammation, generalized |
icd11.foundation:179414832 |
MONDO:equivalentTo |
Disseminated chorioretinal inflammation, generalized |
|
|
| MONDO:0962715 |
other specified malignant neoplasms of bone and articular cartilage of other and unspecified sites |
icd11.foundation:1795052008 |
MONDO:equivalentTo |
Other specified malignant neoplasms of bone and articular cartilage of other and unspecified sites |
|
|
| MONDO:0962997 |
male hypoactive sexual desire dysfunction, lifelong, situational |
icd11.foundation:1847051610 |
MONDO:equivalentTo |
Male hypoactive sexual desire dysfunction, lifelong, situational |
The person has always experienced male hypoactive sexual desire dysfunction from the time of initiation of relevant sexual activity and the desired response is currently absent or diminished in some circumstances, with some partners, or in response to some stimuli, but not in other situations. |
|
| MONDO:0963013 |
squamous cell carcinomas of unspecified site |
icd11.foundation:1850192176 |
MONDO:equivalentTo |
Squamous cell carcinomas of unspecified site |
A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. |
|
| MONDO:0963062 |
other specified malignant neoplasms of posterior wall of oropharynx |
icd11.foundation:1858216134 |
MONDO:equivalentTo |
Other specified malignant neoplasms of posterior wall of oropharynx |
|
|
| MONDO:0963173 |
disseminated chorioretinal inflammation, peripheral |
icd11.foundation:1878682278 |
MONDO:equivalentTo |
Disseminated chorioretinal inflammation, peripheral |
|
|
| MONDO:0963305 |
degenerative disease of basal ganglia, unspecified |
icd11.foundation:1905096074 |
MONDO:equivalentTo |
Degenerative disease of basal ganglia, unspecified |
|
|
| MONDO:0963410 |
other disorders of aromatic amino-acid metabolism |
icd11.foundation:1924695455 |
MONDO:equivalentTo |
Other disorders of aromatic amino-acid metabolism |
|
|
| MONDO:0963567 |
other specified malignant neoplasms involving overlapping sites of oropharynx |
icd11.foundation:1949066976 |
MONDO:equivalentTo |
Other specified malignant neoplasms involving overlapping sites of oropharynx |
|
|
| MONDO:0964022 |
other acute pancreatitis, with local and systemic complication |
icd11.foundation:2029986332 |
MONDO:equivalentTo |
Other acute pancreatitis, with local and systemic complication |
This is an inflammation of the pancreas with sudden onset that includes complications associated with the pancreas and those affecting the body more generally. |
|
| MONDO:0964499 |
unspecified disseminated chorioretinal inflammation |
icd11.foundation:2115827663 |
MONDO:equivalentTo |
Unspecified disseminated chorioretinal inflammation |
|
|
| MONDO:0964788 |
malignant neoplasm of unspecified urinary organ without mention of type |
icd11.foundation:235366053 |
MONDO:equivalentTo |
Malignant neoplasm of unspecified urinary organ without mention of type |
|
|
| MONDO:0964827 |
branchial carcinoma |
icd11.foundation:240813673 |
MONDO:equivalentTo |
Branchial carcinoma |
|
|
| MONDO:0965154 |
startup mortality list |
icd11.foundation:293832343 |
MONDO:equivalentTo |
Startup Mortality List |
|
|
| MONDO:0965176 |
male hypoactive sexual desire dysfunction, lifelong, generalised |
icd11.foundation:298393303 |
MONDO:equivalentTo |
Male hypoactive sexual desire dysfunction, lifelong, generalised |
The person has always experienced male hypoactive sexual desire dysfunction from the time of initiation of relevant sexual activity and the desired response is currently absent or diminished in all circumstances, including masturbation. |
|
| MONDO:0965291 |
rheumatoid arthritis, unspecified, both rheumatoid factor and anti-citrullinated protein antibody positive |
icd11.foundation:317801589 |
MONDO:equivalentTo |
Rheumatoid arthritis, unspecified, both rheumatoid factor and anti-citrullinated protein antibody positive |
|
|
| MONDO:0965374 |
primary malignant neoplasm of endometrium |
icd11.foundation:334391530 |
MONDO:equivalentTo |
Primary malignant neoplasm of endometrium |
|
|
| MONDO:0965772 |
other specified malignant neoplasms of unspecified urinary organ |
icd11.foundation:412628000 |
MONDO:equivalentTo |
Other specified malignant neoplasms of unspecified urinary organ |
|
|
| MONDO:0966020 |
nonorganic origin hyposomnia |
icd11.foundation:457811066 |
MONDO:equivalentTo |
Nonorganic origin hyposomnia |
|
|
| MONDO:0966028 |
disseminated chorioretinal inflammation of posterior pole |
icd11.foundation:458701403 |
MONDO:equivalentTo |
Disseminated chorioretinal inflammation of posterior pole |
|
|
| MONDO:0966539 |
special tabulation list of infectious agents |
icd11.foundation:553864676 |
MONDO:equivalentTo |
Special tabulation list of infectious agents |
|
|
| MONDO:0966812 |
reactive arthritis : site unspecified |
icd11.foundation:601782267 |
MONDO:equivalentTo |
Reactive arthritis : site unspecified |
|
|
| MONDO:0967041 |
special tabulation neurological conditions |
icd11.foundation:643539024 |
MONDO:equivalentTo |
Special tabulation neurological conditions |
|
|
| MONDO:0967362 |
unspecified focal chorioretinal inflammation |
icd11.foundation:702136278 |
MONDO:equivalentTo |
Unspecified focal chorioretinal inflammation |
|
|
| MONDO:0967383 |
reactive arthritis : pelvic region and thigh |
icd11.foundation:706359880 |
MONDO:equivalentTo |
Reactive arthritis : pelvic region and thigh |
|
|
| MONDO:0967644 |
reactive arthritis, shoulder region |
icd11.foundation:760869165 |
MONDO:equivalentTo |
Reactive arthritis, shoulder region |
|
|
| MONDO:0967698 |
spondylitis in other brucellosis |
icd11.foundation:771146219 |
MONDO:equivalentTo |
Spondylitis in other brucellosis |
|
|
| MONDO:0967743 |
gycopenia |
icd11.foundation:779187649 |
MONDO:equivalentTo |
Gycopenia |
|
|
| MONDO:0967750 |
unspecified keratoconjunctivitis |
icd11.foundation:779823350 |
MONDO:equivalentTo |
Unspecified keratoconjunctivitis |
|
|
| MONDO:0967760 |
focal chorioretinal inflammation, macular or paramacular |
icd11.foundation:781876413 |
MONDO:equivalentTo |
Focal chorioretinal inflammation, macular or paramacular |
|
|
| MONDO:0967801 |
adenocarcinoma of unspecified urinary organ |
icd11.foundation:789255518 |
MONDO:equivalentTo |
Adenocarcinoma of unspecified urinary organ |
|
|
| MONDO:0968630 |
focal chorioretinal inflammation of posterior pole |
icd11.foundation:943661757 |
MONDO:equivalentTo |
Focal chorioretinal inflammation of posterior pole |
|
|
| MONDO:0968692 |
vernal keratoconjunctivitis, with limbar and corneal involvement |
icd11.foundation:954103544 |
MONDO:equivalentTo |
Vernal keratoconjunctivitis, with limbar and corneal involvement |
|
|
| MONDO:0968932 |
other acute pancreatitis, with systemic complication |
icd11.foundation:997849874 |
MONDO:equivalentTo |
Other acute pancreatitis, with systemic complication |
This is a sudden and acute inflammation of the pancreas, with systemic complication. |
|
| MONDO:0971185 |
syndromic permanent congenital hypothyroidism |
icd11.foundation:1001074143 |
MONDO:equivalentTo |
Syndromic permanent congenital hypothyroidism |
This is a syndromic permanent congenital state in which the thyroid gland does not make enough thyroid hormone. |
MONDO:0016408 |
| MONDO:0971186 |
gastric ulcer due to external causes |
icd11.foundation:1001757676 |
MONDO:equivalentTo |
Gastric ulcer due to external causes |
Gastric ulcer caused by external substances, such as alcohol, radiation, chemical agent and by other external causes. |
MONDO:0001126 |
| MONDO:0971187 |
carcinoma in situ of anterior wall of nasopharynx |
icd11.foundation:1002156348 |
MONDO:equivalentTo |
Carcinoma in situ of anterior wall of nasopharynx |
|
MONDO:0021297 |
| MONDO:0971188 |
irritable bowel syndrome, mixed type |
icd11.foundation:1002275014 |
MONDO:equivalentTo |
Irritable bowel syndrome, mixed type |
This is a bowel pattern subtype of irritable bowel syndrome, characterised by alteration of bowel habits having both diarrhoea and constipation. The subtype having diarrhoea and constipation alternatively often varying over time is also considered as synonymous. |
MONDO:0005052 |
| MONDO:0971189 |
secondary hypertension associated with renal tubular disorders |
icd11.foundation:1002584618 |
MONDO:equivalentTo |
Secondary hypertension associated with renal tubular disorders |
|
MONDO:0001200 |
| MONDO:0971190 |
corneal dystrophy, avellino type |
icd11.foundation:1002682456 |
MONDO:equivalentTo |
Corneal dystrophy, Avellino type |
Type 2 granular corneal dystrophy (GCD2) is a rare form of stromal corneal dystrophy characterised by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. |
MONDO:0020213 |
| MONDO:0971191 |
mixed phenotype acute leukaemias, b and myeloid, not elsewhere classified |
icd11.foundation:1002734100 |
MONDO:equivalentTo |
Mixed phenotype acute leukaemias, B and myeloid, not elsewhere classified |
|
MONDO:0019460 |
| MONDO:0971192 |
proximal deletions of the long arm of chromosome 10 |
icd11.foundation:1003020383 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 10 |
|
MONDO:0016909 |
| MONDO:0971193 |
hypoxic ischaemic encephalopathy of newborn, severe |
icd11.foundation:10036778 |
MONDO:equivalentTo |
Hypoxic ischaemic encephalopathy of newborn, severe |
A paediatric condition characterised as being when the brain fails to receive a sufficient amount of oxygen or blood before and during birth with effects including stupor, lack of muscle tone, seizures, suppressed brain stem and autonomic functions, and an electroencephalogram which may be isopotential or have infrequent periodic discharges. |
MONDO:0006663 |
| MONDO:0971194 |
posterior communicating artery aneurysm |
icd11.foundation:1004414978 |
MONDO:equivalentTo |
Posterior communicating artery aneurysm |
|
MONDO:0019543 |
| MONDO:0971195 |
46,xx androgen-induced disorder of sex development due to maternal androluteoma |
icd11.foundation:1005413394 |
MONDO:equivalentTo |
46,XX androgen-induced disorder of sex development due to maternal androluteoma |
This refers to 46,XX disorders of sex development induced by any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of male characteristics in vertebrates by binding to androgen receptors. This is due to maternal androluteoma. |
MONDO:0019608 |
| MONDO:0971196 |
hypogonadotropic hypogonadism associated with other endocrinopathies |
icd11.foundation:1005592018 |
MONDO:equivalentTo |
Hypogonadotropic hypogonadism associated with other endocrinopathies |
This is a condition which is characterised by hypogonadism due to an impaired secretion of gonadotropins, including follicle-stimulating hormone (FSH) and luteinizing hormone (LH), by the pituitary gland in the brain, and in turn decreased gonadotropin levels and a resultant lack of sex steroid production. This diagnosis is associated with other endocrinopathies. |
MONDO:0015770 |
| MONDO:0971197 |
haptocorrin deficiency |
icd11.foundation:1005802309 |
MONDO:equivalentTo |
Haptocorrin deficiency |
Haptocorrin also known as transcobalamin-1 (TC-1), or the R-factor, is a protein that in humans is encoded by the TCN1 gene. The essential function of haptocorrin is protection of the acid-sensitive vitamin B12 while it moves through the stomach. Genomic mutations associated with mild and severe deficiencies of haptocorrin that cause mildly and severely low serum cobalamin levels due to absorption abnormalities. |
MONDO:0015178 |
| MONDO:0971198 |
congenital abnormality of iris |
icd11.foundation:1005836095 |
MONDO:equivalentTo |
Congenital abnormality of iris |
|
MONDO:0019503 |
| MONDO:0971199 |
potter syndrome |
icd11.foundation:1005874764 |
MONDO:equivalentTo |
Potter syndrome |
A condition that develops due to in utero oligo-anuric renal failure. The lack of urine output results in oligo- or anhydramnios. |
MONDO:0018470 |
| MONDO:0971200 |
limb-girdle muscular dystrophy 2o, pomgnt1 gene mutation |
icd11.foundation:1006273551 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2O, POMGNT1 gene mutation |
Limb-girdle muscular dystrophy-dystroglycanopathy (type C3; MDDGC3), also known as LGMD2O, is caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. It is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition, and it is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan collectively known as dystroglycanopathies. |
MONDO:0015152 |
| MONDO:0971201 |
lissencephaly due to tuba1a gene mutation |
icd11.foundation:1006889224 |
MONDO:equivalentTo |
Lissencephaly due to TUBA1A gene mutation |
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. |
MONDO:0015147 |
| MONDO:0971202 |
laryngotracheooesophageal cleft type 0 |
icd11.foundation:1007234149 |
MONDO:equivalentTo |
Laryngotracheooesophageal cleft type 0 |
Laryngo-tracheo-oesophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterised by a submucosal laryngo-tracheo-oesophageal cleft with minor symptoms or an asymptomatic course. |
MONDO:0016060 |
| MONDO:0971203 |
conserved oligomeric golgi complex deficiencies |
icd11.foundation:1007299548 |
MONDO:equivalentTo |
Conserved oligomeric Golgi complex deficiencies |
This refers to deficiencies is a protein that in humans is encoded by the COG1 gene. The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localised complex (COG) required for normal Golgi morphology and function. |
MONDO:0017749 |
| MONDO:0971204 |
myelomeningocele without hydrocephalus |
icd11.foundation:1008004337 |
MONDO:equivalentTo |
Myelomeningocele without hydrocephalus |
A condition caused by failure of the neural tube to close completely during fetal development. This condition is characterised by nerve damage. This condition may also present with syringomyelia, hip dislocation, headache, nausea, vomiting, blurry vision, balance problems, bladder control problems, meningitis, or mental impairment. |
MONDO:0017069 |
| MONDO:0971205 |
ankyloblepharon - ectodermal defects - cleft lip or palate |
icd11.foundation:1008188767 |
MONDO:equivalentTo |
Ankyloblepharon - ectodermal defects - cleft lip or palate |
Ankyloblepharon - ectodermal defects - cleft lip/palate syndrome, designated as Hay Wells syndrome, is characterised by congenital ectodermal dysplasia with wiry, sparse hair; dystrophic nails; slight hypohidrosis; scalp infections; ankyloblepharon filiform adnatum (apposing eyelid margins connected by abnormal tissue strands); hypodontia (missing teeth); maxillary hypoplasia; and cleft lip/palate. |
MONDO:0019287 |
| MONDO:0971206 |
chronic uraemic syndrome |
icd11.foundation:1008373619 |
MONDO:equivalentTo |
Chronic uraemic syndrome |
|
MONDO:0005300 |
| MONDO:0971207 |
cellulitis of cervix |
icd11.foundation:1008557762 |
MONDO:equivalentTo |
Cellulitis of cervix |
|
MONDO:0002345 |
| MONDO:0971208 |
squamous cell carcinomas of posterior wall of hypopharynx |
icd11.foundation:1008738827 |
MONDO:equivalentTo |
Squamous cell carcinomas of posterior wall of hypopharynx |
|
MONDO:0044638 |
| MONDO:0971209 |
persistent hyperplastic primary vitreous, unilateral |
icd11.foundation:1009058276 |
MONDO:equivalentTo |
Persistent hyperplastic primary vitreous, unilateral |
|
MONDO:0019631 |
| MONDO:0971210 |
cholesteatoma tympani |
icd11.foundation:1009629364 |
MONDO:equivalentTo |
Cholesteatoma tympani |
|
MONDO:0006533 |
| MONDO:0971211 |
bochdalek hernia |
icd11.foundation:1010347506 |
MONDO:equivalentTo |
Bochdalek hernia |
|
MONDO:0005711 |
| MONDO:0971212 |
spinal muscular atrophy, not elsewhere classified |
icd11.foundation:1010861730 |
MONDO:equivalentTo |
Spinal muscular atrophy, not elsewhere classified |
|
MONDO:0001516 |
| MONDO:0971213 |
rheumatic torticollis |
icd11.foundation:1011252191 |
MONDO:equivalentTo |
Rheumatic torticollis |
|
MONDO:0008383 |
| MONDO:0971214 |
deletions of chromosome 15 |
icd11.foundation:1011262723 |
MONDO:equivalentTo |
Deletions of chromosome 15 |
|
MONDO:0020054 |
| MONDO:0971215 |
tricuspid atresia with imperforate tricuspid valve |
icd11.foundation:1011284448 |
MONDO:equivalentTo |
Tricuspid atresia with imperforate tricuspid valve |
A congenital cardiovascular malformation with an imperforate tricuspid valve; the tricuspid valve and associated atrioventricular connection/junction are present but the valve is imperforate. |
MONDO:0011514 |
| MONDO:0971216 |
acquired thrombocytopenia specified as refractory |
icd11.foundation:101131513 |
MONDO:equivalentTo |
Acquired thrombocytopenia specified as refractory |
|
MONDO:0001198 |
| MONDO:0971217 |
allergic atopic asthma |
icd11.foundation:1011332383 |
MONDO:equivalentTo |
Allergic atopic asthma |
|
MONDO:0004784 |
| MONDO:0971218 |
polyarticular psoriatic arthritis |
icd11.foundation:101285361 |
MONDO:equivalentTo |
Polyarticular psoriatic arthritis |
|
MONDO:0011849 |
| MONDO:0971219 |
osteoporosis, hand |
icd11.foundation:1012918588 |
MONDO:equivalentTo |
Osteoporosis, hand |
|
MONDO:0005298 |
| MONDO:0971220 |
erythromelanosis follicularis faciei |
icd11.foundation:1013339126 |
MONDO:equivalentTo |
Erythromelanosis follicularis faciei |
|
MONDO:0021036 |
| MONDO:0971221 |
angiolipoma of unspecified site |
icd11.foundation:1013351535 |
MONDO:equivalentTo |
Angiolipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0971222 |
congenital absence of uterus |
icd11.foundation:1013417353 |
MONDO:equivalentTo |
Congenital absence of uterus |
|
MONDO:0015844 |
| MONDO:0971223 |
sudden heart failure |
icd11.foundation:1014665010 |
MONDO:equivalentTo |
Sudden heart failure |
|
MONDO:0005252 |
| MONDO:0971224 |
creutzfeldt-jakob disease encephalopathy |
icd11.foundation:1014699185 |
MONDO:equivalentTo |
Creutzfeldt-Jakob disease encephalopathy |
|
MONDO:0007403 |
| MONDO:0971225 |
aniridia, unilateral |
icd11.foundation:1014903273 |
MONDO:equivalentTo |
Aniridia, unilateral |
|
MONDO:0019172 |
| MONDO:0971226 |
obsessive-compulsive disorder with fair to good insight |
icd11.foundation:1015764596 |
MONDO:equivalentTo |
Obsessive-compulsive disorder with fair to good insight |
All definitional requirements of obsessive-compulsive disorder are met. Much of the time, the individual is able to entertain the possibility that his or her disorder-specific beliefs may not be true and is willing to accept an alternative explanation for his or her experience. At circumscribed times (e.g., when highly anxious), the individual may demonstrate no insight. |
MONDO:0008114 |
| MONDO:0971227 |
dust allergy with asthma |
icd11.foundation:1015943650 |
MONDO:equivalentTo |
Dust allergy with asthma |
|
MONDO:0004784 |
| MONDO:0971228 |
pulmonary nocardiosis |
icd11.foundation:101604109 |
MONDO:equivalentTo |
Pulmonary nocardiosis |
A disease of the respiratory system, caused by an infection with the gram-positive bacteria Nocardia. This disease is characterised by chest pain, haemoptysis, fever, weight loss, and cough. Transmission is by inhalation of Nocardia from soil or water. Confirmation is by identification of Nocardia in sputum samples, or lung biopsy. |
MONDO:0004652 |
| MONDO:0971229 |
perirenal fasciitis with infection |
icd11.foundation:1016042804 |
MONDO:equivalentTo |
Perirenal fasciitis with infection |
|
MONDO:0021750 |
| MONDO:0971230 |
dental pulp stone |
icd11.foundation:1016454792 |
MONDO:equivalentTo |
Dental pulp stone |
|
MONDO:0001216 |
| MONDO:0971231 |
naevoid epidermolytic ichthyosis |
icd11.foundation:1016960944 |
MONDO:equivalentTo |
Naevoid epidermolytic ichthyosis |
|
MONDO:0017266 |
| MONDO:0971232 |
benign neoplasm of cardiac atrium |
icd11.foundation:1018033278 |
MONDO:equivalentTo |
Benign neoplasm of cardiac atrium |
|
MONDO:0021450 |
| MONDO:0971233 |
acute pneumonitis |
icd11.foundation:1018754291 |
MONDO:equivalentTo |
Acute pneumonitis |
|
MONDO:0005249 |
| MONDO:0971234 |
drug-induced osteoporosis, neck |
icd11.foundation:1019268469 |
MONDO:equivalentTo |
Drug-induced osteoporosis, neck |
|
MONDO:0024650 |
| MONDO:0971235 |
orthostatic hypertension |
icd11.foundation:1019543883 |
MONDO:equivalentTo |
Orthostatic hypertension |
|
MONDO:0001134 |
| MONDO:0971236 |
panniculitis, unspecified, skull |
icd11.foundation:1019654777 |
MONDO:equivalentTo |
Panniculitis, unspecified, skull |
|
MONDO:0006591 |
| MONDO:0971237 |
congenital atresia of anterior nares |
icd11.foundation:1020405505 |
MONDO:equivalentTo |
Congenital atresia of anterior nares |
|
MONDO:0012155 |
| MONDO:0971238 |
merkel cell carcinoma of skin |
icd11.foundation:1020467726 |
MONDO:equivalentTo |
Merkel cell carcinoma of skin |
A rare malignant cutaneous tumour seen in elderly patients. Its usual location is on the head, neck and extremities. The tumour is composed of small round cells with scanty cytoplasm arranged in a trabecular pattern, or in ill-defined nodules or in a diffuse pattern. The tumour cells contain cytoplasmic membrane-bound dense core granules resembling neurosecretory granules. There is strong evidence implicating Merkel cell polyoma virus in a majority of cases of Merkel cell carcinoma. |
MONDO:0019210 |
| MONDO:0971239 |
spastic paraplegia |
icd11.foundation:1021877193 |
MONDO:equivalentTo |
Spastic paraplegia |
This is a severe or complete loss of motor function in the lower extremities and lower portions of the trunk with involuntary contractions. |
MONDO:0003757 |
| MONDO:0971240 |
clinical hyperandrogenism |
icd11.foundation:1023132628 |
MONDO:equivalentTo |
Clinical hyperandrogenism |
Presence of hirsutism, acne or androgenic alopecia (scalp hair loss in women) |
MONDO:0001889 |
| MONDO:0971241 |
infection of cervix |
icd11.foundation:1023260883 |
MONDO:equivalentTo |
Infection of cervix |
|
MONDO:0002345 |
| MONDO:0971242 |
genital granuloma inguinale |
icd11.foundation:1024146816 |
MONDO:equivalentTo |
Genital granuloma inguinale |
The common form of granuloma inguinale, which is confined to the genital area. |
MONDO:0005777 |
| MONDO:0971243 |
acute septic tonsillitis |
icd11.foundation:1025126715 |
MONDO:equivalentTo |
Acute septic tonsillitis |
|
MONDO:0020686 |
| MONDO:0971244 |
benign neoplasm of ventral surface of tongue |
icd11.foundation:1025357883 |
MONDO:equivalentTo |
Benign neoplasm of ventral surface of tongue |
|
MONDO:0021476 |
| MONDO:0971245 |
distal duplications of the short arm of chromosome 1 |
icd11.foundation:102578161 |
MONDO:equivalentTo |
Distal duplications of the short arm of chromosome 1 |
|
MONDO:0017012 |
| MONDO:0971246 |
prolactin deficiency |
icd11.foundation:1025957132 |
MONDO:equivalentTo |
Prolactin deficiency |
Includes genetic and other forms of prolactin deficiency, leading to inability to lactate after delivery. May occur associated with TSH-deficiency. |
MONDO:0015127 |
| MONDO:0971247 |
distal deletions of the long arm of chromosome 8 |
icd11.foundation:1026110425 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 8 |
|
MONDO:0016907 |
| MONDO:0971248 |
irritable bowel syndrome, diarrhoea predominant |
icd11.foundation:1026264346 |
MONDO:equivalentTo |
Irritable bowel syndrome, diarrhoea predominant |
This is a bowel pattern subtype of irritable bowel syndrome, characterised by alteration of bowel habits with diarrhoea predominant. |
MONDO:0005052 |
| MONDO:0971249 |
proximal duplications of the long arm of chromosome 5 |
icd11.foundation:1026461140 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 5 |
|
MONDO:0016956 |
| MONDO:0971250 |
bronchiolectasis |
icd11.foundation:1027730157 |
MONDO:equivalentTo |
Bronchiolectasis |
|
MONDO:0004822 |
| MONDO:0971251 |
angiomyolipoma of unspecified site |
icd11.foundation:1028165087 |
MONDO:equivalentTo |
Angiomyolipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0971252 |
benign neoplasm of nasopharyngeal floor |
icd11.foundation:1028688432 |
MONDO:equivalentTo |
Benign neoplasm of nasopharyngeal floor |
|
MONDO:0021478 |
| MONDO:0971253 |
diabetic necrobiosis lipoidica |
icd11.foundation:1029082545 |
MONDO:equivalentTo |
Diabetic necrobiosis lipoidica |
Necrobiosis lipoidica associated with diabetes mellitus. About two thirds of cases of necrobiosis lipoidica show such an association. The skin changes may appear before the diabetes becomes clinically apparent. |
MONDO:0006583 |
| MONDO:0971254 |
solitary bone cyst, upper arm |
icd11.foundation:1029141479 |
MONDO:equivalentTo |
Solitary bone cyst, upper arm |
|
MONDO:0019372 |
| MONDO:0971255 |
segmental neurofibromatosis 1 |
icd11.foundation:1029518818 |
MONDO:equivalentTo |
Segmental neurofibromatosis 1 |
|
MONDO:0018975 |
| MONDO:0971256 |
sequelae of frostbite, not elsewhere classified |
icd11.foundation:1029996319 |
MONDO:equivalentTo |
Sequelae of frostbite, not elsewhere classified |
|
MONDO:0800177 |
| MONDO:0971257 |
allergic asthmatic rhinitis |
icd11.foundation:1030339759 |
MONDO:equivalentTo |
Allergic asthmatic rhinitis |
|
MONDO:0004784 |
| MONDO:0971258 |
palindromic rheumatism, neck |
icd11.foundation:10304275 |
MONDO:equivalentTo |
Palindromic rheumatism, neck |
|
MONDO:0001332 |
| MONDO:0971259 |
unspecified frostbite of face |
icd11.foundation:1030859938 |
MONDO:equivalentTo |
Unspecified frostbite of face |
|
MONDO:0800177 |
| MONDO:0971260 |
laryngotracheobronchitis |
icd11.foundation:1030874707 |
MONDO:equivalentTo |
Laryngotracheobronchitis |
|
MONDO:0003781 |
| MONDO:0971261 |
axial myopia |
icd11.foundation:103113807 |
MONDO:equivalentTo |
Axial myopia |
|
MONDO:0001384 |
| MONDO:0971262 |
benign neoplasm of posterior mediastinum |
icd11.foundation:1031194720 |
MONDO:equivalentTo |
Benign neoplasm of posterior mediastinum |
|
MONDO:0021521 |
| MONDO:0971263 |
budd-chiari syndrome without inferior vena cava obstruction |
icd11.foundation:1031330209 |
MONDO:equivalentTo |
Budd-Chiari syndrome without inferior vena cava obstruction |
|
MONDO:0010947 |
| MONDO:0971264 |
benign neoplasm of pharyngeal recess |
icd11.foundation:1031391426 |
MONDO:equivalentTo |
Benign neoplasm of pharyngeal recess |
|
MONDO:0021478 |
| MONDO:0971265 |
necrotising respiratory granulomatosis |
icd11.foundation:1031559358 |
MONDO:equivalentTo |
Necrotising respiratory granulomatosis |
|
MONDO:0012105 |
| MONDO:0971266 |
fauchard disease |
icd11.foundation:1031604542 |
MONDO:equivalentTo |
Fauchard disease |
|
MONDO:0005593 |
| MONDO:0971267 |
papillary fibroelastoma of the heart |
icd11.foundation:1031878580 |
MONDO:equivalentTo |
Papillary fibroelastoma of the heart |
|
MONDO:0021450 |
| MONDO:0971268 |
squamous cell carcinoma of hypopharynx, not elsewhere classified |
icd11.foundation:1031889118 |
MONDO:equivalentTo |
Squamous cell carcinoma of hypopharynx, not elsewhere classified |
|
MONDO:0044638 |
| MONDO:0971269 |
transient congenital hypothyroidism due to transplacental passage of maternal tsh receptor blocking antibodies |
icd11.foundation:1032159701 |
MONDO:equivalentTo |
Transient congenital hypothyroidism due to transplacental passage of maternal TSH receptor blocking antibodies |
Transient congenital hypothyroidism can result from transplacental passage of maternal TSH-binding inhibitory antibodies. This occurs in mothers with autoimmune thyroiditis where immunoglobulin G (IgG) antithyroid antibodies are transmitted across the placenta and block TSH binding sites on the fetal thyroid. This form of congenital hypothyroidism generally resolves within the first 2 to 3 months of life. |
MONDO:0015792 |
| MONDO:0971270 |
igg4-related ophthalmic disease |
icd11.foundation:1032400656 |
MONDO:equivalentTo |
IgG4-related ophthalmic disease |
|
MONDO:0017287 |
| MONDO:0971271 |
ulcer scar of the stomach |
icd11.foundation:1033154855 |
MONDO:equivalentTo |
Ulcer scar of the stomach |
|
MONDO:0001126 |
| MONDO:0971272 |
frostbite with tissue necrosis |
icd11.foundation:1034144655 |
MONDO:equivalentTo |
Frostbite with tissue necrosis |
Frostbite with localised tissue necrosis of skin and deeper tissues |
MONDO:0800177 |
| MONDO:0971273 |
brainstem abscess |
icd11.foundation:1034448562 |
MONDO:equivalentTo |
Brainstem abscess |
A focal suppurative infection in the midbrain, pons, or medulla, typically surrounded by a vascularised capsule. Cerebritis describes a nonencapsulated brain abscess. The infective agent may be bacterial, fungal, or parasitic. The signs and symptoms are variable but typically present as an expanding mass lesion, over a variable period of time, with headache, fever, and a focal neurologic deficit. Seizures may occur. Diagnosis is made by neuroimaging. Microbiologic diagnosis is made by gram stain and culture of abscess material. |
MONDO:0000939 |
| MONDO:0971274 |
idiopathic restrictive cardiomyopathy |
icd11.foundation:1034845657 |
MONDO:equivalentTo |
Idiopathic restrictive cardiomyopathy |
Idiopathic restrictive cardiomyopathy is the presence of restrictive cardiomyopathy in the absence of an identifiable cause such as a storage disorder or sarcomeric or other gene mutation known to be significantly associated with restrictive cardiomyopathy. |
MONDO:0005201 |
| MONDO:0971275 |
childhood granulomatous disorder |
icd11.foundation:1036044849 |
MONDO:equivalentTo |
Childhood granulomatous disorder |
|
MONDO:0018305 |
| MONDO:0971276 |
pregnancy in broad ligament |
icd11.foundation:1036098211 |
MONDO:equivalentTo |
Pregnancy in broad ligament |
|
MONDO:0000755 |
| MONDO:0971277 |
abscess of eye, not elsewhere classified |
icd11.foundation:1036658667 |
MONDO:equivalentTo |
Abscess of eye, not elsewhere classified |
|
MONDO:0004863 |
| MONDO:0971278 |
oligoosteoarthritis |
icd11.foundation:1036686030 |
MONDO:equivalentTo |
Oligoosteoarthritis |
|
MONDO:0005178 |
| MONDO:0971279 |
palindromic rheumatism, upper arm |
icd11.foundation:1036961546 |
MONDO:equivalentTo |
Palindromic rheumatism, upper arm |
|
MONDO:0001332 |
| MONDO:0971280 |
idiopathic acquired central diabetes insipidus |
icd11.foundation:1037418324 |
MONDO:equivalentTo |
Idiopathic acquired central diabetes insipidus |
Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI, ), characterised by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production. |
MONDO:0019846 |
| MONDO:0971281 |
carcinoma in situ of nasopharyngeal wall |
icd11.foundation:1037444164 |
MONDO:equivalentTo |
Carcinoma in situ of nasopharyngeal wall |
|
MONDO:0021297 |
| MONDO:0971282 |
fetal lower urinary tract obstruction due to anterior urethral valve |
icd11.foundation:1037620137 |
MONDO:equivalentTo |
Fetal lower urinary tract obstruction due to anterior urethral valve |
A condition affecting males, caused by failure of the urethra to correctly develop during the antenatal period. This condition may present with dilation of the anterior urethra, penile swelling, urosepsis, or renal failure. Confirmation is through observation of the anterior urethral valve by imaging. |
MONDO:0018559 |
| MONDO:0971283 |
congenital subendocardial sclerosis |
icd11.foundation:1037909287 |
MONDO:equivalentTo |
Congenital subendocardial sclerosis |
|
MONDO:0009169 |
| MONDO:0971284 |
charcot-marie-tooth disease 2 autosomal recessive |
icd11.foundation:1038066820 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease 2 autosomal recessive |
|
MONDO:0018993 |
| MONDO:0971285 |
caries of infancy associated with bottle feeding |
icd11.foundation:1038195661 |
MONDO:equivalentTo |
Caries of infancy associated with bottle feeding |
Decay most often occurs in the upper front teeth, but other teeth may also be affected. |
MONDO:0005276 |
| MONDO:0971286 |
senile dementia |
icd11.foundation:1038351310 |
MONDO:equivalentTo |
Senile dementia |
|
MONDO:0001627 |
| MONDO:0971287 |
autosomal recessive ataxia |
icd11.foundation:103932378 |
MONDO:equivalentTo |
Autosomal recessive ataxia |
Group of autosomal recessively inherited cerebellar ataxias that involve dysfunction of both the cerebellum and dorsal columns. The age of onset is usually less than 20 years of age. The most common forms are Friedreich ataxia, Ataxia-Telangiectasia, and early onset cerebellar ataxia with retained tendon reflexes. |
MONDO:0100309 |
| MONDO:0971288 |
asthenospermia |
icd11.foundation:1039435113 |
MONDO:equivalentTo |
Asthenospermia |
A condition of the genital system affecting males, caused by metabolic deficiencies, primary ciliary dyskinesia, or necrozoospermia. This condition is characterised by a complete loss or deficiency in the motility of sperm. This condition may also present with infertility. Confirmation is by identification of less than 40% motile sperm in a semen analysis. |
MONDO:0005372 |
| MONDO:0971289 |
certain specified congenital or developmental myasthenia |
icd11.foundation:1039514197 |
MONDO:equivalentTo |
Certain specified congenital or developmental myasthenia |
Congenital or developmental myasthenic syndromes are a rare heterogeneous group of inherited neuromuscular disorders characterised by compromised neuromuscular transmission. They are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defects location within the neuromuscular junction. The genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. |
MONDO:0018940 |
| MONDO:0971290 |
glucosyltransferase 2 deficiency |
icd11.foundation:1039779684 |
MONDO:equivalentTo |
Glucosyltransferase 2 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ih is characterised by severe gastrointestinal manifestations, oedema, hepatomegaly, hypoalbuminaemia, a renal tubulopathy and coagulation anomalies. It has been described in five children. Facial dysmorphism was present in the more severely affected patients. Cataract and osteopaenia were also sometimes present. The syndrome is associated with mutations in the ALG8 gene (localised to the pter-p15.5 region on chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-3-glucosyl transferase. |
MONDO:0017740 |
| MONDO:0971291 |
deoxyguanosine kinase deficiency |
icd11.foundation:1041035192 |
MONDO:equivalentTo |
Deoxyguanosine kinase deficiency |
This refers to deficiency in the two substrates of this enzyme are ATP and deoxyguanosine, whereas its two products are ADP and dGMP. |
MONDO:0019236 |
| MONDO:0971292 |
infectious neuro-retinitis |
icd11.foundation:1041207655 |
MONDO:equivalentTo |
Infectious neuro-retinitis |
|
MONDO:0000958 |
| MONDO:0971293 |
hepatic encephalopathy, stage 4 |
icd11.foundation:1041295914 |
MONDO:equivalentTo |
Hepatic encephalopathy, stage 4 |
|
MONDO:0001711 |
| MONDO:0971294 |
benign tumour of buccal aspect of lip |
icd11.foundation:1041898128 |
MONDO:equivalentTo |
Benign tumour of buccal aspect of lip |
|
MONDO:0021496 |
| MONDO:0971295 |
acute haemophilus influenzae laryngitis |
icd11.foundation:1042125712 |
MONDO:equivalentTo |
Acute haemophilus influenzae laryngitis |
|
MONDO:0004777 |
| MONDO:0971296 |
proximal deletions of the long arm of chromosome 12 |
icd11.foundation:1042328099 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 12 |
|
MONDO:0016877 |
| MONDO:0971297 |
proximal duplications of the long arm of chromosome 6 |
icd11.foundation:1042748456 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 6 |
|
MONDO:0016957 |
| MONDO:0971298 |
alcoholic hepatitis with cirrhosis |
icd11.foundation:104340874 |
MONDO:equivalentTo |
Alcoholic hepatitis with cirrhosis |
This is an inflammation of the liver due to excessive intake of alcohol, consequence of liver disease characterised by replacement of liver tissue by fibrosis, scar tissue and regenerative nodules. |
MONDO:0001505 |
| MONDO:0971299 |
paratyphoid fever a |
icd11.foundation:1045590756 |
MONDO:equivalentTo |
Paratyphoid fever A |
Paratyphoid fever A is caused by Salmonella enterica serotype paratyphi A (Salmonella paratyphi A) and is similar to typhoid fever. Salmonella paratyphi A is isolated much less frequently than Salmonella typhi. In biochemical testing Salmonella paratyphi A isolates on TSI/KIA (Triple Sugar Iron Agar/Kligler Iron Agar) are usually K/AG (K = alkaline; A = acid; G = gas production) and do not produce H2S (Hydrogen sulfide). Unlike most other Salmonella, Salmonella paratyphi A isolates are lysine-negative and appear yellow on LIA (Lysine iron agar). |
MONDO:0018626 |
| MONDO:0971300 |
distal duplications of the long arm of chromosome 17 |
icd11.foundation:1045669714 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 17 |
|
MONDO:0016967 |
| MONDO:0971301 |
oculocerebral syndrome with hypopigmentation |
icd11.foundation:1046083935 |
MONDO:equivalentTo |
Oculocerebral syndrome with hypopigmentation |
Rare syndrome characterised by hypopigmentation of the skin, microphthalmia and cerebral abnormalities which result in spasticity and mental retardation. |
MONDO:0018910 |
| MONDO:0971302 |
4p16.3 duplication |
icd11.foundation:104694717 |
MONDO:equivalentTo |
4p16.3 duplication |
|
MONDO:0016941 |
| MONDO:0971303 |
sarcoidosis of certain specified or combined sites |
icd11.foundation:1047221605 |
MONDO:equivalentTo |
Sarcoidosis of certain specified or combined sites |
This is a group of specified sarcoidosis types, where sarcoidosis is a multisystem disorder of unknown cause characterised by the formation of immune granulomas in involved organs where the lung and the lymphatic system are predominantly affected. |
MONDO:0019338 |
| MONDO:0971304 |
respiratory distress syndrome of the newborn, altered by maternal corticosteroid therapy or pulmonary surfactant replacement therapy |
icd11.foundation:1047814419 |
MONDO:equivalentTo |
Respiratory distress syndrome of the newborn, altered by maternal corticosteroid therapy or pulmonary surfactant replacement therapy |
|
MONDO:0009971 |
| MONDO:0971305 |
acute pneumothorax |
icd11.foundation:1048829701 |
MONDO:equivalentTo |
Acute pneumothorax |
|
MONDO:0002076 |
| MONDO:0971306 |
radiculopathy due to electric shock or lightning |
icd11.foundation:1048832316 |
MONDO:equivalentTo |
Radiculopathy due to electric shock or lightning |
|
MONDO:0002959 |
| MONDO:0971307 |
acute or subacute infective endocarditis, right-sided |
icd11.foundation:1049673197 |
MONDO:equivalentTo |
Acute or subacute infective endocarditis, right-sided |
|
MONDO:0000565 |
| MONDO:0971308 |
bartter syndrome type 2 |
icd11.foundation:1050277439 |
MONDO:equivalentTo |
Bartter syndrome type 2 |
|
MONDO:0015231 |
| MONDO:0971309 |
congenital atresia of external auditory canal |
icd11.foundation:1050590155 |
MONDO:equivalentTo |
Congenital atresia of external auditory canal |
|
MONDO:0015385 |
| MONDO:0971310 |
meroanencephaly |
icd11.foundation:1050639062 |
MONDO:equivalentTo |
Meroanencephaly |
|
MONDO:0000819 |
| MONDO:0971311 |
infectious secondary gastric ulcer |
icd11.foundation:1051205634 |
MONDO:equivalentTo |
Infectious secondary gastric ulcer |
Gastric ulcer due to infectious diseases other than Helicobacter pylori, such as bacteria such as mycobacterium, virus, fungus and parasites. |
MONDO:0001126 |
| MONDO:0971312 |
carcinoma in situ of posterior surface of epiglottis |
icd11.foundation:1051345347 |
MONDO:equivalentTo |
Carcinoma in situ of posterior surface of epiglottis |
|
MONDO:0021287 |
| MONDO:0971313 |
constitutional neutropaenia with extra-haematopoietic manifestations |
icd11.foundation:1051492133 |
MONDO:equivalentTo |
Constitutional neutropaenia with extra-haematopoietic manifestations |
This is a granulocyte disorder characterised by an abnormally low number of neutrophils. Neutrophils usually make up 50-70% of circulating white blood cells and serve as the primary defence against infections by destroying bacteria in the blood. This diagnosis is with extra-haematopoietic manifestations. |
MONDO:0015134 |
| MONDO:0971314 |
metachromatic leukodystrophy due to sphingolipid activator protein i deficiency |
icd11.foundation:1051556131 |
MONDO:equivalentTo |
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency |
|
MONDO:0018868 |
| MONDO:0971315 |
hypoxic ischaemic encephalopathy of newborn, mild |
icd11.foundation:1051799633 |
MONDO:equivalentTo |
Hypoxic ischaemic encephalopathy of newborn, mild |
A paediatric condition characterised as being when the brain fails to receive a sufficient amount of oxygen or blood before and during birth with effects that last for less than 24 hours, do not inhibit Moro and stretch reflexes, and have a normal electroencephalogram. |
MONDO:0006663 |
| MONDO:0971316 |
hypophosphataemic rickets with hypercalciuria |
icd11.foundation:1052311971 |
MONDO:equivalentTo |
Hypophosphataemic rickets with hypercalciuria |
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterised by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. |
MONDO:0000044 |
| MONDO:0971317 |
acute monoblastic or monocytic leukaemia in complete remission |
icd11.foundation:1052628155 |
MONDO:equivalentTo |
Acute monoblastic or monocytic leukaemia in complete remission |
|
MONDO:0007896 |
| MONDO:0971318 |
oesophageal fistula without atresia |
icd11.foundation:1052638253 |
MONDO:equivalentTo |
Oesophageal fistula without atresia |
This is a birth defect (congenital anomaly) of oesophagus, and one type of EA/TEF, namely isolated "H"-shaped atresia. Tracheoesophageal fistula in which there is no oesophageal atresia because the oesophagus is continuous to the stomach. Fistula is present between the oesophagus and the trachea. Incidence of TE fistula without atresia varies between 1-11% of oesophageal malformations. |
MONDO:0019513 |
| MONDO:0971319 |
holoprosencephaly with congenital nasal pyriform aperture stenosis |
icd11.foundation:1052833532 |
MONDO:equivalentTo |
Holoprosencephaly with congenital nasal pyriform aperture stenosis |
|
MONDO:0016296 |
| MONDO:0971320 |
complete trisomy 18, meiotic non-disjunction |
icd11.foundation:1052899114 |
MONDO:equivalentTo |
Complete trisomy 18, meiotic non-disjunction |
|
MONDO:0018071 |
| MONDO:0971321 |
benign tumour of mesopharynx |
icd11.foundation:1053133528 |
MONDO:equivalentTo |
Benign tumour of mesopharynx |
|
MONDO:0021479 |
| MONDO:0971322 |
deletions of chromosome 14 |
icd11.foundation:1053325556 |
MONDO:equivalentTo |
Deletions of chromosome 14 |
|
MONDO:0020054 |
| MONDO:0971323 |
molybdenum cofactor deficiency, complementation group c |
icd11.foundation:1053685634 |
MONDO:equivalentTo |
Molybdenum cofactor deficiency, complementation group C |
|
MONDO:0020480 |
| MONDO:0971324 |
anosmic congenital hypogonadotropic hypogonadism |
icd11.foundation:1053735191 |
MONDO:equivalentTo |
Anosmic congenital hypogonadotropic hypogonadism |
Kallmann syndrome is a congenital genetic disorder characterised by the association of hypogonadotropic hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). |
MONDO:0015770 |
| MONDO:0971325 |
aplasia cutis congenita due to adverse intrauterine events |
icd11.foundation:1054064376 |
MONDO:equivalentTo |
Aplasia cutis congenita due to adverse intrauterine events |
Sporadic aplasia cutis congenita associated with events such as placental infarction, fetus papyraceus, exposure to teratogens or intrauterine infection, e.g. Herpes simplex or Varicella zoster virus. |
MONDO:0007145 |
| MONDO:0971326 |
congenital megacalycosis, bilateral |
icd11.foundation:105459586 |
MONDO:equivalentTo |
Congenital megacalycosis, bilateral |
|
MONDO:0019639 |
| MONDO:0971327 |
unspecified disorders of cobalamin absorption, transport or metabolism |
icd11.foundation:105465481 |
MONDO:equivalentTo |
Unspecified disorders of cobalamin absorption, transport or metabolism |
|
MONDO:0019220 |
| MONDO:0971328 |
fetal lower urinary tract obstruction due to posterior urethral valve |
icd11.foundation:105479263 |
MONDO:equivalentTo |
Fetal lower urinary tract obstruction due to posterior urethral valve |
Congenital posterior urethral valves cause bladder obstruction in males that can manifest along a spectrum of severity, ranging from disease incompatible with postnatal life to conditions that have such minimal impact that they may not manifest until later in life. Renal insufficiency is caused by PUVs in approximately 10%-15% of children undergoing renal transplant, and approximately one third of patients born with PUVs progress to end-stage renal disease. Moreover, as a result of the obstructive process, increased collagen deposition and muscle hypertrophy can significantly thicken the bladder wall. Hypertrophy and hyperplasia of the detrusor muscle and increases in connective tissue limit bladder compliance during filling. |
MONDO:0018559 |
| MONDO:0971329 |
pituitary incidentaloma |
icd11.foundation:1055379119 |
MONDO:equivalentTo |
Pituitary incidentaloma |
|
MONDO:0015127 |
| MONDO:0971330 |
proximal duplications of the short arm of chromosome 8 |
icd11.foundation:105545833 |
MONDO:equivalentTo |
Proximal duplications of the short arm of chromosome 8 |
|
MONDO:0016945 |
| MONDO:0971331 |
other benign neoplasm of appendix |
icd11.foundation:1055862069 |
MONDO:equivalentTo |
Other benign neoplasm of appendix |
|
MONDO:0021465 |
| MONDO:0971332 |
acute miliary tuberculosis of a single specified site |
icd11.foundation:1056849595 |
MONDO:equivalentTo |
Acute miliary tuberculosis of a single specified site |
A disease caused by an infection with the bacteria Mycobacterium tuberculosis that is disseminated through the body, and affecting a specific body site. This disease is characterised by numerous small lesions of 1-5 millimetre(s) in any organ, and fever. Transmission is commonly by inhalation of infected respiratory secretions. Confirmation is by radiography, CT, ultrasonography, and identification of Mycobacterium tuberculosis, depending on the site affected. |
MONDO:0005848 |
| MONDO:0971333 |
distal duplications of the long arm of chromosome 2 |
icd11.foundation:1057227161 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 2 |
|
MONDO:0016953 |
| MONDO:0971334 |
acute eroded gastric ulcer |
icd11.foundation:105857021 |
MONDO:equivalentTo |
Acute eroded gastric ulcer |
|
MONDO:0001126 |
| MONDO:0971335 |
cystoisosporiasis of small intestine |
icd11.foundation:1058992628 |
MONDO:equivalentTo |
Cystoisosporiasis of small intestine |
|
MONDO:0018769 |
| MONDO:0971336 |
nosomania |
icd11.foundation:1059075633 |
MONDO:equivalentTo |
Nosomania |
|
MONDO:0001596 |
| MONDO:0971337 |
chronic biliary pancreatitis |
icd11.foundation:1059121903 |
MONDO:equivalentTo |
Chronic biliary pancreatitis |
This is an inflammation of the pancreas characterised by recurring or persistent abdominal pain, associated with gallstones or biliary sludge. |
MONDO:0005003 |
| MONDO:0971338 |
proximal duplications of the long arm of chromosome 1 |
icd11.foundation:1059129606 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 1 |
|
MONDO:0016952 |
| MONDO:0971339 |
double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis, fallot type |
icd11.foundation:1060446859 |
MONDO:equivalentTo |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect and pulmonary stenosis, Fallot type |
A congenital cardiovascular malformation that is a variant of double outlet right ventricle with concordant atrioventricular connections, a subaortic or doubly-committed (with absence or deficiency of the conal septum) ventricular septal defect, and pulmonary outflow tract obstruction. |
MONDO:0018089 |
| MONDO:0971340 |
marginal zone-like mantle cell lymphoma |
icd11.foundation:1060566746 |
MONDO:equivalentTo |
Marginal zone-like mantle cell lymphoma |
|
MONDO:0018876 |
| MONDO:0971341 |
pituitary gland cyst |
icd11.foundation:1060715140 |
MONDO:equivalentTo |
Pituitary gland cyst |
|
MONDO:0015127 |
| MONDO:0971342 |
spleen hyperaemia |
icd11.foundation:1061611632 |
MONDO:equivalentTo |
Spleen hyperaemia |
|
MONDO:0001367 |
| MONDO:0971343 |
invasive aspergillosis of the upper respiratory tract or mouth |
icd11.foundation:1062186318 |
MONDO:equivalentTo |
Invasive aspergillosis of the upper respiratory tract or mouth |
|
MONDO:0000240 |
| MONDO:0971344 |
cauda equina syndrome due to infection |
icd11.foundation:1062532645 |
MONDO:equivalentTo |
Cauda equina syndrome due to infection |
Compression or dysfunction of the cauda equina due to acute or chronic infections, often with multiple organisms including commonly Tuberculosis, Brucellosis as well as fungal infections. Chronic subdural bacterial infections are other examples of infections which commonly give rise to cauda equine syndrome. |
MONDO:0005693 |
| MONDO:0971345 |
inborn errors of neurotransmitter metabolism |
icd11.foundation:1062748595 |
MONDO:equivalentTo |
Inborn errors of neurotransmitter metabolism |
|
MONDO:0019052 |
| MONDO:0971346 |
osteonecrosis due to trauma, skull |
icd11.foundation:1063155299 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, skull |
|
MONDO:0018375 |
| MONDO:0971347 |
adenosquamous carcinoma of thymus |
icd11.foundation:1063583175 |
MONDO:equivalentTo |
Adenosquamous carcinoma of thymus |
|
MONDO:0006451 |
| MONDO:0971348 |
scabietic papules or nodules |
icd11.foundation:1063972458 |
MONDO:equivalentTo |
Scabietic papules or nodules |
Firm itchy papules and nodules may persist for months after successful treatment of scabies, particularly on male genitalia. They may also be found in children, especially around the axillae. |
MONDO:0004525 |
| MONDO:0971349 |
tuberculosis of brain |
icd11.foundation:1064451072 |
MONDO:equivalentTo |
Tuberculosis of brain |
This is a common, and in many cases lethal, infectious disease caused by various strains of mycobacteria, usually Mycobacterium tuberculosis, of the brain. |
MONDO:0005696 |
| MONDO:0971350 |
xeroderma pigmentosum b |
icd11.foundation:1064918621 |
MONDO:equivalentTo |
Xeroderma pigmentosum B |
Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers. Some XPB patients present with classic XP features of varying severity (photosensitivity of skin with burning and freckling, skin and eye tumours) and mild neurological abnormalities, while others combine classical XP features with systemic and neurological manifestations of Cockayne syndrome such as short stature, bilateral sensorineural hearing loss and hyperreflexia (XP/CS complex). |
MONDO:0019600 |
| MONDO:0971351 |
nonacquired hypopituitarism |
icd11.foundation:1065421711 |
MONDO:equivalentTo |
Nonacquired hypopituitarism |
This refers to non-acquired decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. |
MONDO:0005152 |
| MONDO:0971352 |
juvenile psoriatic arthritis, multiple sites |
icd11.foundation:10655817 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, multiple sites |
|
MONDO:0019436 |
| MONDO:0971353 |
endocervix infection |
icd11.foundation:1066221755 |
MONDO:equivalentTo |
Endocervix infection |
|
MONDO:0002345 |
| MONDO:0971354 |
limb-girdle muscular dystrophy 2d, alpha-sarcoglycan deficiency |
icd11.foundation:1066309170 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2D, alpha-sarcoglycan deficiency |
Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2D belongs to the group of LGMD, that are genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD2D is a sarcoglycanopathy characterised by scapular winging and calf hypertrophy with cardiac involvement in about 20% of cases. |
MONDO:0015152 |
| MONDO:0971355 |
necrosis of ethmoid |
icd11.foundation:106649354 |
MONDO:equivalentTo |
Necrosis of ethmoid |
|
MONDO:0004757 |
| MONDO:0971356 |
chondrocalcinosis, ankle or foot |
icd11.foundation:1067303786 |
MONDO:equivalentTo |
Chondrocalcinosis, ankle or foot |
|
MONDO:0001314 |
| MONDO:0971357 |
secondary hypoalphalipoproteinaemia |
icd11.foundation:1067703594 |
MONDO:equivalentTo |
Secondary hypoalphalipoproteinaemia |
|
MONDO:0017773 |
| MONDO:0971358 |
cleft lip and alveolus, unilateral |
icd11.foundation:1067895658 |
MONDO:equivalentTo |
Cleft lip and alveolus, unilateral |
|
MONDO:0015420 |
| MONDO:0971359 |
localised granuloma annulare |
icd11.foundation:1068350869 |
MONDO:equivalentTo |
Localised granuloma annulare |
This is the commonest form of granuloma annulare and typically presents in children and young adults as one or more rings of small, smooth, flesh-coloured or erythematous papules which enlarge centrifugally. The dorsa of the hands, the fingers and the feet are the commonest sites. |
MONDO:0006554 |
| MONDO:0971360 |
acute pneumococcal appendicitis |
icd11.foundation:1068805858 |
MONDO:equivalentTo |
Acute pneumococcal appendicitis |
|
MONDO:0005649 |
| MONDO:0971361 |
congestive heart failure nyha class iii |
icd11.foundation:1068960732 |
MONDO:equivalentTo |
Congestive heart failure NYHA Class III |
|
MONDO:0005009 |
| MONDO:0971362 |
infectious conjunctivitis |
icd11.foundation:1069783578 |
MONDO:equivalentTo |
Infectious conjunctivitis |
|
MONDO:0003799 |
| MONDO:0971363 |
infection due to dicrocoelium dendriticum |
icd11.foundation:1069843985 |
MONDO:equivalentTo |
Infection due to Dicrocoelium dendriticum |
|
MONDO:0005729 |
| MONDO:0971364 |
arachnophobia |
icd11.foundation:1070048029 |
MONDO:equivalentTo |
Arachnophobia |
|
MONDO:0012000 |
| MONDO:0971365 |
acute myeloid leukaemia with multilineage dysplasia in complete remission |
icd11.foundation:1070700011 |
MONDO:equivalentTo |
Acute myeloid leukaemia with multilineage dysplasia in complete remission |
|
MONDO:0019456 |
| MONDO:0971366 |
emphysematous cholecystitis without calculus |
icd11.foundation:1070721967 |
MONDO:equivalentTo |
Emphysematous cholecystitis without calculus |
|
MONDO:0043994 |
| MONDO:0971367 |
neutral amino acid transport defect |
icd11.foundation:1071241996 |
MONDO:equivalentTo |
Neutral amino acid transport defect |
|
MONDO:0019216 |
| MONDO:0971368 |
early-onset ataxia with oculomotor apraxia and hypoalbuminaemia |
icd11.foundation:1071655898 |
MONDO:equivalentTo |
Early-onset ataxia with oculomotor apraxia and hypoalbuminaemia |
Ataxia with oculomotor apraxia 1 (AOA1) is a neurological disorder belonging to the group of autosomal recessive cerebellar ataxias characterised by early onset gait ataxia (between 2 and 6 years of age), dysarthria, limb dysmetria (later in disease course), oculomotor apraxia, distal and symmetric muscle weakness and wasting, mild loss of vibration and joint position sense and slow progression. |
MONDO:0018151 |
| MONDO:0971369 |
acquired angioedema type ii |
icd11.foundation:1071705004 |
MONDO:equivalentTo |
Acquired angioedema type II |
An acquired autoimmune disorder which resembles hereditary angioedema but is due to antibodies directed against C1 inhibitor (C1-INH). |
MONDO:0019624 |
| MONDO:0971370 |
mucosal vitiligo |
icd11.foundation:1072219751 |
MONDO:equivalentTo |
Mucosal vitiligo |
Vitiligo of mucous membranes |
MONDO:0008661 |
| MONDO:0971371 |
distal deletions of the long arm of chromosome 2 |
icd11.foundation:1072623493 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 2 |
|
MONDO:0016901 |
| MONDO:0971372 |
mucinous cystadenocarcinoma of ovary |
icd11.foundation:1072920842 |
MONDO:equivalentTo |
Mucinous cystadenocarcinoma of ovary |
|
MONDO:0008170 |
| MONDO:0971373 |
filiform palmoplantar keratoderma |
icd11.foundation:1073860632 |
MONDO:equivalentTo |
Filiform palmoplantar keratoderma |
A morphological description for keratodermas characterised by multiple fine spines projecting vertically from palmoplantar skin. They are probably genetically heterogeneous. They may be inherited as an autosomal dominant trait or may be sporadic. In the former case the keratoderma may not become apparent until adulthood. |
MONDO:0017675 |
| MONDO:0971374 |
dermatophytosis organised by site of involvement |
icd11.foundation:107393968 |
MONDO:equivalentTo |
Dermatophytosis organised by site of involvement |
Dermatophytosis organised by anatomical location of infection as in the traditional tinea classification (tinea capitis, tinea pedis etc.) rather than by organism responsible for infection. Additional codes for organism and for clinical manifestation (e.g. kerion) may be required to characterize a dermatophyte infection fully. |
MONDO:0004678 |
| MONDO:0971375 |
sustained ventricular tachycardia |
icd11.foundation:1074183247 |
MONDO:equivalentTo |
Sustained ventricular tachycardia |
Ventricular tachycardia that has a duration of >30 seconds or causes haemodynamic instability. |
MONDO:0005477 |
| MONDO:0971376 |
serous cystadenoma, borderline malignancy of ovary |
icd11.foundation:1074379931 |
MONDO:equivalentTo |
Serous cystadenoma, borderline malignancy of ovary |
|
MONDO:0008170 |
| MONDO:0971377 |
chronic alcohol-induced pancreatitis |
icd11.foundation:1074519974 |
MONDO:equivalentTo |
Chronic alcohol-induced pancreatitis |
|
MONDO:0005003 |
| MONDO:0971378 |
alexander disease infantile form |
icd11.foundation:1074952784 |
MONDO:equivalentTo |
Alexander disease infantile form |
Neurodegenerative disorder occurring within the first two years of life, with common characteristics including megalencaphaly, sometimes hydrocephaly, retarded psychomotor development or mental deterioration, pyramidal signs, ataxia and convulsive seizures. |
MONDO:0008752 |
| MONDO:0971379 |
atrophoderma vermiculatum |
icd11.foundation:1075050916 |
MONDO:equivalentTo |
Atrophoderma vermiculatum |
Atrophoderma vermiculatum is a variant of keratoses pilaris atrophicans in which multiple keratotic follicular papules appear on the cheeks, upper lip, and forehead during mid childhood and then resolve with reticulate atrophic scarring resembling honeycomb. In contrast to other forms of keratoses pilaris atrophicans there is no involvement of the eyebrows, eyelashes or scalp. Progression stops after puberty. |
MONDO:0018855 |
| MONDO:0971380 |
dissociative amnesia with dissociative fugue |
icd11.foundation:1075129954 |
MONDO:equivalentTo |
Dissociative amnesia with dissociative fugue |
Dissociative amnesia with dissociative fugue is characterised by all of the features of Dissociative Amnesia, accompanied by dissociative fugue, i.e., a loss of a sense of personal identity and sudden travel away from home, work, or significant others for an extended period of time (days or weeks). A new identity may be assumed. |
MONDO:0001185 |
| MONDO:0971381 |
leber 'plus' disease |
icd11.foundation:1075890287 |
MONDO:equivalentTo |
Leber 'plus' disease |
Lebers hereditary optic neuropathy associated with severe neurologic abnormalities |
MONDO:0010788 |
| MONDO:0971382 |
benign neoplasm of tail of pancreas |
icd11.foundation:1076414759 |
MONDO:equivalentTo |
Benign neoplasm of tail of pancreas |
|
MONDO:0021470 |
| MONDO:0971383 |
bathophobia |
icd11.foundation:1076902524 |
MONDO:equivalentTo |
Bathophobia |
|
MONDO:0012000 |
| MONDO:0971384 |
adenine phosphoribosyltransferase deficiency type ii |
icd11.foundation:1077306267 |
MONDO:equivalentTo |
Adenine phosphoribosyltransferase deficiency type II |
|
MONDO:0013869 |
| MONDO:0971385 |
dominant ataxia with unknown mutation |
icd11.foundation:1077643180 |
MONDO:equivalentTo |
Dominant ataxia with unknown mutation |
Ataxia occurring without a known genetic mutation that is inherited in an autosomal dominant pattern with usual onset in third or fourth decade of life. |
MONDO:0100309 |
| MONDO:0971386 |
lobar cerebral hemispheric abscess |
icd11.foundation:1077688798 |
MONDO:equivalentTo |
Lobar cerebral hemispheric abscess |
A focal suppurative infection within the brain parenchyma typically surrounded by a vascularised capsule, in the frontal, parietal, temporal, or occipital lobe. Cerebritis describes a nonencapsulated brain abscess. The infective agent may be bacterial, fungal, or parasitic. The signs and symptoms are variable but typically present as an expanding mass lesion, over a variable period of time, with headache, fever, and a focal neurologic deficit. Seizures may occur. Diagnosis is made by neuroimaging. Microbiologic diagnosis is made by gram stain and culture of abscess material. |
MONDO:0000939 |
| MONDO:0971387 |
16p11.2 duplication |
icd11.foundation:1078819426 |
MONDO:equivalentTo |
16p11.2 duplication |
|
MONDO:0016949 |
| MONDO:0971388 |
fibrinous pleurisy |
icd11.foundation:1079159920 |
MONDO:equivalentTo |
Fibrinous pleurisy |
|
MONDO:0000986 |
| MONDO:0971389 |
oxalosis |
icd11.foundation:1079235444 |
MONDO:equivalentTo |
Oxalosis |
|
MONDO:0017703 |
| MONDO:0971390 |
lupus erythematosus cell phenomenon |
icd11.foundation:1079467892 |
MONDO:equivalentTo |
Lupus erythematosus cell phenomenon |
|
MONDO:0007915 |
| MONDO:0971391 |
laryngotracheooesophageal cleft type ii |
icd11.foundation:1079691665 |
MONDO:equivalentTo |
Laryngotracheooesophageal cleft type II |
Laryngo-tracheo-oesophageal cleft, type 2 is a congenital respiratory tract anomaly characterised by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections. |
MONDO:0016060 |
| MONDO:0971392 |
chondromalacia, skull |
icd11.foundation:1079884928 |
MONDO:equivalentTo |
Chondromalacia, skull |
|
MONDO:0002342 |
| MONDO:0971393 |
catecholaminergic polymorphic ventricular tachycardia due to ryr2 mutation |
icd11.foundation:1080233943 |
MONDO:equivalentTo |
Catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation |
Genetically proven catecholaminergic polymorphic ventricular tachycardia due to ryanodine receptor mutation (autosomal dominant). |
MONDO:0017990 |
| MONDO:0971394 |
hereditary sensory and autonomic neuropathy type ic |
icd11.foundation:1080311032 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy Type IC |
HSAN Type IC is the result of a mutation in the SPLTC2 gene and presents with loss of pain and temperature sensations, occasional autonomic involvement, variable sensorineural deafness and distal motor involvement. |
MONDO:0018213 |
| MONDO:0971395 |
osteonecrosis due to trauma, ribs |
icd11.foundation:1082174956 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, ribs |
|
MONDO:0018375 |
| MONDO:0971396 |
cauda equina syndrome due to vascular disorder |
icd11.foundation:1082797484 |
MONDO:equivalentTo |
Cauda equina syndrome due to vascular disorder |
|
MONDO:0005693 |
| MONDO:0971397 |
accessory coronary artery |
icd11.foundation:1083781657 |
MONDO:equivalentTo |
Accessory coronary artery |
A congenital cardiac malformation in which there is an additional coronary artery that duplicates the blood supply of an existing and named coronary artery. |
MONDO:0015203 |
| MONDO:0971398 |
filamin c myopathy |
icd11.foundation:1084199137 |
MONDO:equivalentTo |
Filamin C myopathy |
Filamin C myopathy is a class of progressive skeletal myopathies due to mutation in the filamin C gene (FLNC). Patients initially present with proximal muscle weakness, while distal and respiratory muscles become affected with disease progression. In some forms, it eventually results in tetraparesis and wheelchair dependence. Muscle biopsy shows typical signs of myofibrillar myopathy, including disintegration of myofibrils and aggregation of several proteins into distinct intracellular deposits. |
MONDO:0018943 |
| MONDO:0971399 |
ocular behet disease |
icd11.foundation:1084539944 |
MONDO:equivalentTo |
Ocular Behet disease |
|
MONDO:0019541 |
| MONDO:0971400 |
idiopathic aseptic osteonecrosis, skull |
icd11.foundation:1085147872 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, skull |
|
MONDO:0018380 |
| MONDO:0971401 |
alg11 congenital disorder of glycosylation |
icd11.foundation:1085343875 |
MONDO:equivalentTo |
ALG11 congenital disorder of glycosylation |
This refers to ALG11 congenital disorder of the reaction in which a carbohydrate, i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another molecule (a glycosyl acceptor). |
MONDO:0017740 |
| MONDO:0971402 |
short rib-polydactyly syndrome, verma-naumoff type |
icd11.foundation:1085403900 |
MONDO:equivalentTo |
Short rib-polydactyly syndrome, Verma-Naumoff type |
|
MONDO:0015461 |
| MONDO:0971403 |
transient tyrosine oxidase deficiency |
icd11.foundation:1085704398 |
MONDO:equivalentTo |
Transient tyrosine oxidase deficiency |
Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterised by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. |
MONDO:0017307 |
| MONDO:0971404 |
chronic lymphadenitis |
icd11.foundation:1085750085 |
MONDO:equivalentTo |
Chronic lymphadenitis |
|
MONDO:0002052 |
| MONDO:0971405 |
keratoglobus |
icd11.foundation:1085899634 |
MONDO:equivalentTo |
Keratoglobus |
Keratoglobus shows globular protrusion of the cornea and diffuse corneal thinning most severe peripherally. There exists the congenital and the acquired form. The etiology is unknown. However, associations between keratoglobus and disorders such as Ehlers-Danlos type VI, Marfan syndrome, and the blue sclera syndrome indicate that the etiology may result from defects in collagen synthesis. There is also an association to vernal keratoconjunctivitis, dysthyroid ophthalmopathy, and chronic marginal blepharitis. |
MONDO:0009576 |
| MONDO:0971406 |
alveolar or peri-alveolar conditions |
icd11.foundation:1086222649 |
MONDO:equivalentTo |
Alveolar or peri-alveolar conditions |
|
MONDO:0017015 |
| MONDO:0971407 |
bartter syndrome type 3 |
icd11.foundation:1086343593 |
MONDO:equivalentTo |
Bartter syndrome type 3 |
|
MONDO:0015231 |
| MONDO:0971408 |
osteochondritis of the lower ulna |
icd11.foundation:108649610 |
MONDO:equivalentTo |
Osteochondritis of the lower ulna |
|
MONDO:0018381 |
| MONDO:0971409 |
juvenile systemic arthritis, multiple sites |
icd11.foundation:1087231158 |
MONDO:equivalentTo |
Juvenile systemic arthritis, multiple sites |
|
MONDO:0019434 |
| MONDO:0971410 |
acanthamoeba ulcer of cornea |
icd11.foundation:1087506623 |
MONDO:equivalentTo |
Acanthamoeba ulcer of cornea |
|
MONDO:0004577 |
| MONDO:0971411 |
gonococcal bursitis, hand |
icd11.foundation:1087517327 |
MONDO:equivalentTo |
Gonococcal bursitis, hand |
|
MONDO:0001719 |
| MONDO:0971412 |
atresia of vesicourethral orifice |
icd11.foundation:1087551968 |
MONDO:equivalentTo |
Atresia of vesicourethral orifice |
|
MONDO:0018559 |
| MONDO:0971413 |
familial infantile myasthenia |
icd11.foundation:1087841084 |
MONDO:equivalentTo |
Familial infantile myasthenia |
Isolated Prolyl endopeptidase-like (PREPL) deficiency causing congenital myasthenic syndromes with pre- and postsynaptic features and growth hormone deficiency was reported in a singleton case. Clinical features include onset at birth, hypotonia, feeding difficulties. On examination eyelid ptosis, tented upper lip, proximal muscle weakness, variable during day, cholinesterase-inhibitor responsive. No decrement on repetitive nerve stimulation. |
MONDO:0018940 |
| MONDO:0971414 |
arginine hyperaminoaciduria |
icd11.foundation:1087931965 |
MONDO:equivalentTo |
Arginine hyperaminoaciduria |
|
MONDO:0008814 |
| MONDO:0971415 |
carcinoma in situ of lateral wall of nasopharynx |
icd11.foundation:1087962253 |
MONDO:equivalentTo |
Carcinoma in situ of lateral wall of nasopharynx |
|
MONDO:0021297 |
| MONDO:0971416 |
disorders of facilitated glucose transport |
icd11.foundation:1088155670 |
MONDO:equivalentTo |
Disorders of facilitated glucose transport |
|
MONDO:0017706 |
| MONDO:0971417 |
plaque psoriasis |
icd11.foundation:1088800108 |
MONDO:equivalentTo |
Plaque psoriasis |
The commonest form of psoriasis, which manifests as well-defined red, scaly plaques on the skin. Typical sites of initial involvement are the scalp, the extensor surfaces of the elbows and knees, the lower back and the shins. In severe disease a majority of the skin surface may be involved. |
MONDO:0005083 |
| MONDO:0971418 |
disorders of phosphorus metabolism or phosphatases |
icd11.foundation:108919913 |
MONDO:equivalentTo |
Disorders of phosphorus metabolism or phosphatases |
Any condition caused by errors in phosphorus metabolism, or in phosphatase activity. |
MONDO:0017761 |
| MONDO:0971419 |
dissecting folliculitis of the scalp |
icd11.foundation:1089876546 |
MONDO:equivalentTo |
Dissecting folliculitis of the scalp |
|
MONDO:0009848 |
| MONDO:0971420 |
urban rabies |
icd11.foundation:1090204844 |
MONDO:equivalentTo |
Urban rabies |
|
MONDO:0019173 |
| MONDO:0971421 |
primary familial polycythaemia due to epor mutation |
icd11.foundation:1092751875 |
MONDO:equivalentTo |
Primary familial polycythaemia due to EPOR mutation |
|
MONDO:0007572 |
| MONDO:0971422 |
atypical gaucher disease due to saposin c deficiency |
icd11.foundation:1092756118 |
MONDO:equivalentTo |
Atypical Gaucher disease due to saposin C deficiency |
|
MONDO:0018150 |
| MONDO:0971423 |
kelley-seegmiller syndrome |
icd11.foundation:1094084865 |
MONDO:equivalentTo |
Kelley-Seegmiller syndrome |
Kelley-Seegmiller syndrome is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction leading to urolithiasis, and early-onset gout. |
MONDO:0016088 |
| MONDO:0971424 |
neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency |
icd11.foundation:1094336651 |
MONDO:equivalentTo |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. |
MONDO:0019215 |
| MONDO:0971425 |
radiculopathy, lumbar region |
icd11.foundation:1094466592 |
MONDO:equivalentTo |
Radiculopathy, lumbar region |
|
MONDO:0002959 |
| MONDO:0971426 |
spondylolysis with slippage |
icd11.foundation:1094869648 |
MONDO:equivalentTo |
Spondylolysis with slippage |
This is a condition characterised by degeneration of a portion of the vertebra, usually in the pars interarticularis (the bone bridge between the superior and inferior facet joints of the lumbar vertebra) with forward displacement of a superior vertebral body over the vertebral body below. |
MONDO:0005541 |
| MONDO:0971427 |
diphtheritic ulcer of larynx |
icd11.foundation:1095367434 |
MONDO:equivalentTo |
Diphtheritic ulcer of larynx |
|
MONDO:0020863 |
| MONDO:0971428 |
mitochondrial phosphate carrier deficiency |
icd11.foundation:1095525854 |
MONDO:equivalentTo |
Mitochondrial phosphate carrier deficiency |
This refers to phosphate deficiency in proteins from the solute carrier family which transfers molecules across the membranes of the mitochondria. |
MONDO:0016801 |
| MONDO:0971429 |
periappendicitis |
icd11.foundation:1096330540 |
MONDO:equivalentTo |
Periappendicitis |
|
MONDO:0005649 |
| MONDO:0971430 |
mitochondrial myopathy with coenzyme q deficiency |
icd11.foundation:1096543099 |
MONDO:equivalentTo |
Mitochondrial myopathy with coenzyme Q deficiency |
The encephalomyopathic form of primary Coenzyme Q10 deficiency, described in few families, is characterised by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures. Coenzyme Q10 deficiency with isolated mitochondrial myopathy and without central nervous system involvement is rare. Skeletal muscle histochemical evaluation reveals ragged red fibres whereas respiratory chain enzyme analyses shows partial reductions in complex I, I + III, and II + III activities. The mean Coenzyme Q10 concentration in skeletal muscle is reduced. |
MONDO:0009637 |
| MONDO:0971431 |
n-acetylglutamate synthase deficiency |
icd11.foundation:1096683428 |
MONDO:equivalentTo |
N-acetylglutamate synthase deficiency |
|
MONDO:0016602 |
| MONDO:0971432 |
adult retinoschisis |
icd11.foundation:1097255 |
MONDO:equivalentTo |
Adult retinoschisis |
|
MONDO:0004579 |
| MONDO:0971433 |
retinopathy of prematurity, posterior zone 2 |
icd11.foundation:1098566253 |
MONDO:equivalentTo |
Retinopathy of prematurity, Posterior Zone 2 |
The area extending centrifugally from the edge of zone I to a circle with a radius equal to the distance from the center of the optic disc to the nasal ora serrata. |
MONDO:0006952 |
| MONDO:0971434 |
adenoid cystic carcinoma of cervix uteri |
icd11.foundation:109863869 |
MONDO:equivalentTo |
Adenoid cystic carcinoma of cervix uteri |
|
MONDO:0005153 |
| MONDO:0971435 |
acute idiopathic pancreatitis |
icd11.foundation:1099726746 |
MONDO:equivalentTo |
Acute idiopathic pancreatitis |
Acute pancreatitis of which etiology cannot be identified. It should be diagnosed by exclusion of alcohol, gallstone, and other possible etiologies. |
MONDO:0006515 |
| MONDO:0971436 |
maxillonasal dysplasia |
icd11.foundation:1099755052 |
MONDO:equivalentTo |
Maxillonasal dysplasia |
Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite'' (or class III malocclusion). |
MONDO:0019589 |
| MONDO:0971437 |
monostotic fibrous dysplasia, lower leg |
icd11.foundation:1099917655 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, lower leg |
|
MONDO:0019665 |
| MONDO:0971438 |
charcot-marie-tooth hypertrophic neuropathy |
icd11.foundation:1099921051 |
MONDO:equivalentTo |
Charcot-Marie-Tooth hypertrophic neuropathy |
|
MONDO:0015358 |
| MONDO:0971439 |
oral-facial-digital syndrome type 13 |
icd11.foundation:1100065246 |
MONDO:equivalentTo |
Oral-facial-digital syndrome type 13 |
|
MONDO:0015375 |
| MONDO:0971440 |
pharynx plague |
icd11.foundation:1100430548 |
MONDO:equivalentTo |
Pharynx plague |
|
MONDO:0019095 |
| MONDO:0971441 |
basal epidermolysis bullosa simplex |
icd11.foundation:1100654683 |
MONDO:equivalentTo |
Basal epidermolysis bullosa simplex |
Forms of epidermolysis bullosa in which the abnormality responsible for blistering involves the basal epidermis. Keratins 5 and 14 are two proteins, absence or abnormalities of which are linked to basal epidermolysis. |
MONDO:0017610 |
| MONDO:0971442 |
early age-related macular degeneration |
icd11.foundation:110246821 |
MONDO:equivalentTo |
Early age-related macular degeneration |
consists of a combination of multiple small drusen, few intermediate drusen (63 to 124 microns in diameter), or RPE abnormalities. |
MONDO:0005150 |
| MONDO:0971443 |
transient retinal artery occlusion |
icd11.foundation:1103454380 |
MONDO:equivalentTo |
Transient retinal artery occlusion |
|
MONDO:0001633 |
| MONDO:0971444 |
osseous cryptococcosis |
icd11.foundation:110356131 |
MONDO:equivalentTo |
Osseous cryptococcosis |
Bone involvement is documented in 5%-10% of patients with cryptococcal infection. Bone lesions are usually osteolytic and may be misinterpreted as neoplastic lesions or osseous tuberculosis |
MONDO:0005724 |
| MONDO:0971445 |
autoimmune hepatitis type 3 with cirrhosis |
icd11.foundation:1104075543 |
MONDO:equivalentTo |
Autoimmune hepatitis type 3 with cirrhosis |
Autoimmune hepatitis type 3 with cirrhosis is autoimmune hepatitis type 3 complicated with liver cirrhosis. |
MONDO:0021177 |
| MONDO:0971446 |
morax lacunata angular conjunctivitis |
icd11.foundation:1104599251 |
MONDO:equivalentTo |
Morax lacunata angular conjunctivitis |
|
MONDO:0003799 |
| MONDO:0971447 |
eosinophilic cholangitis |
icd11.foundation:110465666 |
MONDO:equivalentTo |
Eosinophilic cholangitis |
Cholangitis caused by the eosinophilic infiltration to the bile duct. |
MONDO:0004789 |
| MONDO:0971448 |
intermittent hydrarthrosis, upper arm |
icd11.foundation:1105541384 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, upper arm |
|
MONDO:0018015 |
| MONDO:0971449 |
frontal sinus abscess |
icd11.foundation:1105682122 |
MONDO:equivalentTo |
Frontal sinus abscess |
|
MONDO:0001120 |
| MONDO:0971450 |
inflammatory fibroid polyp of large intestine |
icd11.foundation:110574174 |
MONDO:equivalentTo |
Inflammatory fibroid polyp of large intestine |
Inflammatory fibroid polyp is a benign, non-encapsulated submucosal lesion, composed mainly of loose connective tissues, vessels and with an eosinophilic inflammatory component. |
MONDO:0021392 |
| MONDO:0971451 |
obstructive congenital vesical hernia |
icd11.foundation:1106017646 |
MONDO:equivalentTo |
Obstructive congenital vesical hernia |
|
MONDO:0018559 |
| MONDO:0971452 |
familial-genetic restrictive cardiomyopathy |
icd11.foundation:1106514905 |
MONDO:equivalentTo |
Familial-genetic restrictive cardiomyopathy |
Familial-genetic restrictive cardiomyopathy is the presence of restrictive cardiomyopathy in more than one member of a pedigree or in the presence of a genetic mutation known to be significantly associated with restrictive cardiomyopathy. |
MONDO:0005201 |
| MONDO:0971453 |
welander distal myopathy |
icd11.foundation:1107278535 |
MONDO:equivalentTo |
Welander distal myopathy |
Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later. |
MONDO:0018949 |
| MONDO:0971454 |
20q13 deletion |
icd11.foundation:1107706171 |
MONDO:equivalentTo |
20q13 deletion |
|
MONDO:0016918 |
| MONDO:0971455 |
x-linked distal arthrogryposis multiplex congenita |
icd11.foundation:11078402 |
MONDO:equivalentTo |
X-linked distal arthrogryposis multiplex congenita |
|
MONDO:0015168 |
| MONDO:0971456 |
seronegative rheumatoid arthritis |
icd11.foundation:1108009158 |
MONDO:equivalentTo |
Seronegative rheumatoid arthritis |
|
MONDO:0008383 |
| MONDO:0971457 |
acyl-coa dehydrogenase deficiencies |
icd11.foundation:110829303 |
MONDO:equivalentTo |
Acyl-CoA dehydrogenase deficiencies |
This refers to deficiencies in a class of enzymes that function to catalyze the initial step in each cycle of fatty acid beta-oxidation in the mitochondria of cells. |
MONDO:0017713 |
| MONDO:0971458 |
benign neoplasm of adrenal cortex |
icd11.foundation:1109046629 |
MONDO:equivalentTo |
Benign neoplasm of adrenal cortex |
|
MONDO:0021511 |
| MONDO:0971459 |
osteonecrosis due to trauma, shoulder region |
icd11.foundation:1109447533 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, shoulder region |
|
MONDO:0018375 |
| MONDO:0971460 |
tropical muscle abscess |
icd11.foundation:1110243170 |
MONDO:equivalentTo |
Tropical muscle abscess |
|
MONDO:0016127 |
| MONDO:0971461 |
benign intrahepatic cholestasis type 1 |
icd11.foundation:1110331452 |
MONDO:equivalentTo |
Benign intrahepatic cholestasis type 1 |
|
MONDO:0019008 |
| MONDO:0971462 |
inflammatory anal polyp |
icd11.foundation:1110692948 |
MONDO:equivalentTo |
Inflammatory anal polyp |
Inflammatory polyp is an abnormal, mushroom-like growth sticking out from the mucous membrane that lines the anus. This mass is a reaction to some type of chronic inflammation in the anus. |
MONDO:0060766 |
| MONDO:0971463 |
parathyroid osteitis |
icd11.foundation:111150122 |
MONDO:equivalentTo |
Parathyroid osteitis |
|
MONDO:0010837 |
| MONDO:0971464 |
wagner-unverricht syndrome |
icd11.foundation:1111517775 |
MONDO:equivalentTo |
Wagner-Unverricht syndrome |
|
MONDO:0001907 |
| MONDO:0971465 |
verrucous carcinoma of oropharynx |
icd11.foundation:1111589739 |
MONDO:equivalentTo |
Verrucous carcinoma of oropharynx |
|
MONDO:0044704 |
| MONDO:0971466 |
deletions of chromosome 2 |
icd11.foundation:1112455867 |
MONDO:equivalentTo |
Deletions of chromosome 2 |
|
MONDO:0020054 |
| MONDO:0971467 |
secondary non-genetic disorders of cobalamin absorption, transport or metabolism |
icd11.foundation:1113055509 |
MONDO:equivalentTo |
Secondary non-genetic disorders of cobalamin absorption, transport or metabolism |
|
MONDO:0019220 |
| MONDO:0971468 |
medulloblastoma with extensive nodularity of brain |
icd11.foundation:1113706745 |
MONDO:equivalentTo |
Medulloblastoma with extensive nodularity of brain |
Medulloblastoma with extensive nodularity is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, presenting in infants and young children with symptoms such as headache, listlessness, vomiting, diplopia and papilledema and is often associated with Gorlin syndrome and with a relatively good prognosis. |
MONDO:0007959 |
| MONDO:0971469 |
postmenopausal osteoporosis, upper arm |
icd11.foundation:111421178 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, upper arm |
|
MONDO:0008159 |
| MONDO:0971470 |
lymphocutaneous leishmaniasis |
icd11.foundation:1115670543 |
MONDO:equivalentTo |
Lymphocutaneous leishmaniasis |
A form of leishmaniasis in which there is lymphatic spread to lymph nodes from the initial cutaneous site of infection. Nodules or ulceration along lymphatic channels are associated principally with L.panamensis, L. guyanensis and L. braziliensis. |
MONDO:0005446 |
| MONDO:0971471 |
junctional epidermolysis bullosa, generalised types |
icd11.foundation:1115988415 |
MONDO:equivalentTo |
Junctional epidermolysis bullosa, generalised types |
Subtypes of junctional epidermolysis bullosa with generalised blistering |
MONDO:0017612 |
| MONDO:0971472 |
pustular miliaria |
icd11.foundation:1116239404 |
MONDO:equivalentTo |
Pustular miliaria |
Pustular miliaria (miliaria pustulosa) develops from miliaria rubra with the appearance of multiple small pustules on the skin. Although it has been postulated that extracellular polysaccharide produced by Staphylococcus epidermidis may be important in the pathogenesis of miliaria rubra, pustular miliaria is usually sterile, though may be associated with secondary Staphylococcus aureus infection. |
MONDO:0006580 |
| MONDO:0971473 |
diabetic macular oedema |
icd11.foundation:1116345240 |
MONDO:equivalentTo |
Diabetic macular oedema |
|
MONDO:0005266 |
| MONDO:0971474 |
panniculitis, unspecified, trunk |
icd11.foundation:111636167 |
MONDO:equivalentTo |
Panniculitis, unspecified, trunk |
|
MONDO:0006591 |
| MONDO:0971475 |
megalocornea, bilateral |
icd11.foundation:1117636591 |
MONDO:equivalentTo |
Megalocornea, bilateral |
|
MONDO:0009576 |
| MONDO:0971476 |
cauda equina syndrome, incomplete |
icd11.foundation:1117709018 |
MONDO:equivalentTo |
Cauda equina syndrome, incomplete |
|
MONDO:0005693 |
| MONDO:0971477 |
retinopathy of prematurity, zone 1 |
icd11.foundation:1118158126 |
MONDO:equivalentTo |
Retinopathy of prematurity, Zone 1 |
The area defined by a circle centered on optic nerve, the radius of which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. |
MONDO:0006952 |
| MONDO:0971478 |
inherited osteosclerosis |
icd11.foundation:1118923048 |
MONDO:equivalentTo |
Inherited osteosclerosis |
|
MONDO:0002933 |
| MONDO:0971479 |
single optic neuritis aquaporin-4 antibody positive |
icd11.foundation:1119109040 |
MONDO:equivalentTo |
Single optic neuritis aquaporin-4 antibody positive |
A single episode of optic neuritis associated with seropositivity for aquaporin-4 antibodies but without sufficient features to fulfill the 2006 NMO diagnostic criteria. |
MONDO:0019100 |
| MONDO:0971480 |
frontotemporal dementia, behavioural variant |
icd11.foundation:1119344369 |
MONDO:equivalentTo |
Frontotemporal dementia, behavioural variant |
A progressive dementia, commencing in middle age, characterised by early, slowly progressing changes of character and social deterioration, followed by impairment of intellect, memory, and language functions, with apathy, euphoria and, occasionally, extrapyramidal phenomena. |
MONDO:0017276 |
| MONDO:0971481 |
acute pancreatitis due to ercp and ercp-associated treatments |
icd11.foundation:1119369752 |
MONDO:equivalentTo |
Acute pancreatitis due to ERCP and ERCP-associated treatments |
This is an inflammation of the pancreas with sudden onset, associated with medical procedures such as endoscopic retrograde cholangiopancreatography and associated procedures. |
MONDO:0006515 |
| MONDO:0971482 |
adenine phosphoribosyltransferase deficiency type i |
icd11.foundation:1119403628 |
MONDO:equivalentTo |
Adenine phosphoribosyltransferase deficiency type I |
|
MONDO:0013869 |
| MONDO:0971483 |
parasitic posterior uveitis |
icd11.foundation:1119445454 |
MONDO:equivalentTo |
Parasitic posterior uveitis |
|
MONDO:0017209 |
| MONDO:0971484 |
drug-induced osteoporosis, skull |
icd11.foundation:1119808980 |
MONDO:equivalentTo |
Drug-induced osteoporosis, skull |
|
MONDO:0024650 |
| MONDO:0971485 |
thymoma type a of thymus |
icd11.foundation:1120130061 |
MONDO:equivalentTo |
Thymoma type A of thymus |
Thymoma originates from the epithelial cell population in the thymus, and several microscopic subtypes are now recognised. It will be type A if the epithelial cells have an oval or fusiform shape (less lymphocyte count). |
MONDO:0006456 |
| MONDO:0971486 |
hypospadias, penile |
icd11.foundation:1120553459 |
MONDO:equivalentTo |
Hypospadias, penile |
A condition of the urethra affecting males, caused by determinants arising during the antenatal period. This condition is characterised by a malformation of the urethra and the ventral side of the penis and an abnormally placed urinary meatus that opens along the shaft of the penis. This condition may also present with an incomplete foreskin that forms a hood. |
MONDO:0005345 |
| MONDO:0971487 |
progressive outer retinal necrosis |
icd11.foundation:1120657097 |
MONDO:equivalentTo |
Progressive outer retinal necrosis |
This is an aggressive, necrotizing inflammation of the eye's retina caused by herpes varicella zoster virus. It is typically found in people with advanced AIDS, but has also been reported in those who are severely immunocompromised due to chemotherapy. |
MONDO:0017209 |
| MONDO:0971488 |
trichorhinophalangeal syndrome type 1 and 3 |
icd11.foundation:112146379 |
MONDO:equivalentTo |
Trichorhinophalangeal syndrome type 1 and 3 |
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterised by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalised shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease, type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. |
MONDO:0019695 |
| MONDO:0971489 |
cauda equina syndrome due to intervertebral disc herniation |
icd11.foundation:112152728 |
MONDO:equivalentTo |
Cauda equina syndrome due to intervertebral disc herniation |
The narrowing of the cauda equina is due to herniation of intervertebral disc. This is the most common cause of back pain and disability in an adult. The pain is related to the herniated disc or degenerative apophyseal joints or synovial membranes. A substantial minority of patients may require surgical intervention. |
MONDO:0005693 |
| MONDO:0971490 |
ovarian pregnancy |
icd11.foundation:1121615955 |
MONDO:equivalentTo |
Ovarian pregnancy |
A condition characterised by implantation of the embryo within the ovary during pregnancy. |
MONDO:0000755 |
| MONDO:0971491 |
v-atpase deficiencies |
icd11.foundation:1122074895 |
MONDO:equivalentTo |
V-ATPase deficiencies |
This refers to deficiencies in a highly conserved evolutionarily ancient enzyme with remarkably diverse functions in eukaryotic organisms. |
MONDO:0017749 |
| MONDO:0971492 |
non-inflammatory abdominal aortic aneurysm |
icd11.foundation:1122214217 |
MONDO:equivalentTo |
Non-inflammatory abdominal aortic aneurysm |
This is non-inflammatory abdominal swelling (dilation or aneurysm) of the aorta to greater than 1.5 times normal, usually representing an underlying weakness in the wall of the aorta at that location. |
MONDO:0005350 |
| MONDO:0971493 |
congenital endplate acetylcholine receptor deficiency |
icd11.foundation:1122219867 |
MONDO:equivalentTo |
Congenital endplate acetylcholine receptor deficiency |
Congenital endplate acetylcholine receptor deficiency is caused by the interruption of the pathway that is believed to be responsible for the stability of the synaptic architecture and for the aggregation and positioning of acetylcholine receptors on the post-synaptic membrane. Molecular defects involves several postsynaptic proteins and lead to either deficiency of the receptor with or without kinetic defects or cause kinetic abnormalities with or without minor acetylcholine receptors deficiency. |
MONDO:0018940 |
| MONDO:0971494 |
distal duplications of the long arm of chromosome 10 |
icd11.foundation:1122922085 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 10 |
|
MONDO:0016961 |
| MONDO:0971495 |
benign tumour of pharyngoesophageal junction |
icd11.foundation:1123391123 |
MONDO:equivalentTo |
Benign tumour of pharyngoesophageal junction |
|
MONDO:0021461 |
| MONDO:0971496 |
fibrodysplasia ossificans progressiva, lower leg |
icd11.foundation:1124058949 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, lower leg |
|
MONDO:0007606 |
| MONDO:0971497 |
chronic kidney disease, stage 2 |
icd11.foundation:1124558660 |
MONDO:equivalentTo |
Chronic kidney disease, stage 2 |
Kidney damage and GFR 60-89 ml/min/1.73m |
MONDO:0005300 |
| MONDO:0971498 |
spondylocostal dysostosis, autosomal dominant |
icd11.foundation:1125033221 |
MONDO:equivalentTo |
Spondylocostal dysostosis, autosomal dominant |
Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterised by vertebral and costal segmentation defects, often with a reduction in the number of ribs. |
MONDO:0019711 |
| MONDO:0971499 |
benign neoplasm of external lower lip |
icd11.foundation:1125433927 |
MONDO:equivalentTo |
Benign neoplasm of external lower lip |
|
MONDO:0021496 |
| MONDO:0971500 |
miliary granulomatosis |
icd11.foundation:1126037561 |
MONDO:equivalentTo |
Miliary granulomatosis |
|
MONDO:0005828 |
| MONDO:0971501 |
acute omentitis |
icd11.foundation:1126485754 |
MONDO:equivalentTo |
Acute omentitis |
|
MONDO:0004522 |
| MONDO:0971502 |
hypertrichosis cubiti - short stature |
icd11.foundation:112708478 |
MONDO:equivalentTo |
Hypertrichosis cubiti - short stature |
|
MONDO:0019287 |
| MONDO:0971503 |
chronic pulpitis |
icd11.foundation:1127268923 |
MONDO:equivalentTo |
Chronic pulpitis |
|
MONDO:0006937 |
| MONDO:0971504 |
acute ischaemic pancreatitis |
icd11.foundation:1127719484 |
MONDO:equivalentTo |
Acute ischaemic pancreatitis |
Acute pancreatitis caused by pancreatic ischemia. This clinical condition is sometimes reported after systemic circulatory collapse such as cardiogenic shock. |
MONDO:0006515 |
| MONDO:0971505 |
coronary artery lesion due to atherosclerosis |
icd11.foundation:1127799824 |
MONDO:equivalentTo |
Coronary artery lesion due to atherosclerosis |
|
MONDO:0021661 |
| MONDO:0971506 |
non-syndromic diffuse palmoplantar keratodermas |
icd11.foundation:1130198023 |
MONDO:equivalentTo |
Non-syndromic diffuse palmoplantar keratodermas |
Diffuse palmoplantar keratoderma not associated with abnormalities of other organs than skin |
MONDO:0017666 |
| MONDO:0971507 |
hypostatic bronchopneumonia |
icd11.foundation:1130340526 |
MONDO:equivalentTo |
Hypostatic bronchopneumonia |
|
MONDO:0005682 |
| MONDO:0971508 |
reversible pulpitis |
icd11.foundation:1130514407 |
MONDO:equivalentTo |
Reversible pulpitis |
|
MONDO:0006937 |
| MONDO:0971509 |
alternating esotropia with a pattern |
icd11.foundation:1131368117 |
MONDO:equivalentTo |
Alternating esotropia with A pattern |
|
MONDO:0004896 |
| MONDO:0971510 |
schistosomal pneumonitis |
icd11.foundation:1131395957 |
MONDO:equivalentTo |
Schistosomal pneumonitis |
|
MONDO:0015254 |
| MONDO:0971511 |
hypervalinaemia |
icd11.foundation:113258236 |
MONDO:equivalentTo |
Hypervalinaemia |
This is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated, without related elevation of the branched-chain amino acids leucine and isoleucine. |
MONDO:0019242 |
| MONDO:0971512 |
pityriasis rubra pilaris, adult |
icd11.foundation:1133961984 |
MONDO:equivalentTo |
Pityriasis rubra pilaris, adult |
Pityriasis rubra pilaris with onset in adulthood, the majority of cases of which are the classical type I |
MONDO:0100017 |
| MONDO:0971513 |
chronic pleurisy |
icd11.foundation:1135670859 |
MONDO:equivalentTo |
Chronic pleurisy |
|
MONDO:0000986 |
| MONDO:0971514 |
cyclic neutropaenia |
icd11.foundation:1137117833 |
MONDO:equivalentTo |
Cyclic neutropaenia |
|
MONDO:0015134 |
| MONDO:0971515 |
acute eruptive lichen planus |
icd11.foundation:1137173247 |
MONDO:equivalentTo |
Acute eruptive lichen planus |
An acute generalised form of lichen planus. |
MONDO:0006572 |
| MONDO:0971516 |
immunodeficiency with decay accelerating factor deficiency |
icd11.foundation:113754019 |
MONDO:equivalentTo |
Immunodeficiency with decay accelerating factor deficiency |
This is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with decay accelerating factor deficiency. |
MONDO:0015136 |
| MONDO:0971517 |
minimal pigment oculocutaneous albinism |
icd11.foundation:1137971016 |
MONDO:equivalentTo |
Minimal pigment oculocutaneous albinism |
|
MONDO:0011749 |
| MONDO:0971518 |
spondylolisthesis, multiple sites in spine |
icd11.foundation:1139141997 |
MONDO:equivalentTo |
Spondylolisthesis, multiple sites in spine |
|
MONDO:0008475 |
| MONDO:0971519 |
schistosomiasis due to schistosoma japonicum |
icd11.foundation:1139567957 |
MONDO:equivalentTo |
Schistosomiasis due to Schistosoma japonicum |
A disease caused by an infection with the parasitic worm Schistosoma japonicum. This disease is characterised by Katayama fever, hepatic perisinusoidal egg granulomas, Symmers pipe stem periportal fibrosis, or portal hypertension. This disease may also present with embolic egg granulomas in the brain or spinal cord. Transmission is by direct contact with freshwater that has been contaminated with Schistosoma japonicum eggs or snails that carry Schistosoma japonicum. Confirmation is by identification of the Schistosoma japonicum eggs in a faecal sample. |
MONDO:0015254 |
| MONDO:0971520 |
acute promyelocytic leukaemia with t(15;17)(q24.1;q21.1), pml-rara |
icd11.foundation:1141137829 |
MONDO:equivalentTo |
Acute promyelocytic leukaemia with t(15;17)(q24.1;q21.1), PML-RARA |
An acute myeloid leukaemia (AML) in which abnormal promyelocytes predominate. It is characterised by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. (WHO, 2001). Patients frequently present with disseminated intravascular coagulation. |
MONDO:0020078 |
| MONDO:0971521 |
2-methylbutyric aciduria |
icd11.foundation:1141171278 |
MONDO:equivalentTo |
2-methylbutyric aciduria |
2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is an organic aciduria characterised by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine, associated from a variable phenotype ranging from asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycaemia, and metabolic acidosis. |
MONDO:0019215 |
| MONDO:0971522 |
proximal deletions of the long arm of chromosome 18 |
icd11.foundation:1141375976 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 18 |
|
MONDO:0011147 |
| MONDO:0971523 |
acute transverse myelitis in demyelinating disease of the central nervous system |
icd11.foundation:1141415034 |
MONDO:equivalentTo |
Acute transverse myelitis in demyelinating disease of the central nervous system |
Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM; see this term) or secondary to a known cause (SATM; see this term). The clinical manifestations common to both forms include motor involvement (limb weakness, stiffness and muscle spasms with impaired respiratory function in cases with involvement of the upper spinal cord), sensory manifestations (back pain, paraesthesia, numbness and neuropathic pain) and autonomic findings (sexual dysfunction, urinary urge/retention, bowel urge/retention and autonomic dysreflexia). |
MONDO:0021553 |
| MONDO:0971524 |
tufted folliculitis |
icd11.foundation:1141576414 |
MONDO:equivalentTo |
Tufted folliculitis |
|
MONDO:0018103 |
| MONDO:0971525 |
epiblepharon, unilateral |
icd11.foundation:1141812078 |
MONDO:equivalentTo |
Epiblepharon, unilateral |
This is characterised by a congenital horizontal fold of skin near the margin of the upper or lower eyelid caused by the abnormal insertion of muscle fibres. This extra fold of skin redirects the lashes into a vertical position, where they may contact the globe. This diagnosis is occurring in one eye. |
MONDO:0020461 |
| MONDO:0971526 |
congenital fibrosis of extraocular muscles 3b |
icd11.foundation:1142629190 |
MONDO:equivalentTo |
Congenital fibrosis of extraocular muscles 3B |
|
MONDO:0007614 |
| MONDO:0971527 |
mitochondrial encephalomyopathy - aminoacidopathy |
icd11.foundation:1143431651 |
MONDO:equivalentTo |
Mitochondrial encephalomyopathy - aminoacidopathy |
This is a form of encephalomyopathy that is associated with a mitochondrial disease. This diagnosis is with aminoacidopathy. |
MONDO:0016796 |
| MONDO:0971528 |
cerebral neuropathic heredofamilial amyloidosis angiopathy |
icd11.foundation:114360127 |
MONDO:equivalentTo |
Cerebral neuropathic heredofamilial amyloidosis angiopathy |
|
MONDO:0007100 |
| MONDO:0971529 |
autosomal dominant dopa-responsive dystonia |
icd11.foundation:1143673207 |
MONDO:equivalentTo |
Autosomal dominant dopa-responsive dystonia |
This disorder involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). Patients often have diurnal fluctuations with worsening in the afternoon and improvement in the morning. Parikinsonism may occur in older individuals in the family. It is inherited in an autosomal dominant fashion and is often responsive to treatment with L-Dopa, also called Segawa Disease. It is due to a mutation in the GTP Cyclohydrolase gene, sometimes due to variations in other genes. |
MONDO:0016812 |
| MONDO:0971530 |
heart myxoma |
icd11.foundation:114368155 |
MONDO:equivalentTo |
Heart myxoma |
|
MONDO:0021450 |
| MONDO:0971531 |
monocular esotropia with a pattern |
icd11.foundation:1143770590 |
MONDO:equivalentTo |
Monocular esotropia with A pattern |
Monocular esotropia with an A pattern is an abnormal binocular alignment in which one of the eyes has an inward deviation. The additional descriptive feature of the presence of an A pattern is specified in which the eyes are more deviated in upgaze and less deviated in downgaze. |
MONDO:0004896 |
| MONDO:0971532 |
complement component c4 deficiency |
icd11.foundation:1145730236 |
MONDO:equivalentTo |
Complement component C4 deficiency |
This gene encodes the basic form of complement factor 4, part of the classical activation pathway. Deficiency of this protein is associated with systemic lupus erythematosus. |
MONDO:0015699 |
| MONDO:0971533 |
skin fragility - plakoglobin deficiency |
icd11.foundation:1145805364 |
MONDO:equivalentTo |
Skin fragility - plakoglobin deficiency |
A rare autosomal recessive skin fragility syndrome due to mutations in the JUP gene which encodes plakoglobin, a protein essential for epidermal integrity. It presents with widespread erosions, sparse woolly hair, nail dystrophy and focal palmoplantar keratoderma. |
MONDO:0015550 |
| MONDO:0971534 |
cystic brain abscess |
icd11.foundation:1146394138 |
MONDO:equivalentTo |
Cystic brain abscess |
|
MONDO:0000939 |
| MONDO:0971535 |
postinfectious urethral stricture, not elsewhere classified |
icd11.foundation:1147521756 |
MONDO:equivalentTo |
Postinfectious urethral stricture, not elsewhere classified |
Urethral stricture caused by infections, e.g. gonococcal urethritis. |
MONDO:0002127 |
| MONDO:0971536 |
schizophrenia, multiple episodes |
icd11.foundation:1150025154 |
MONDO:equivalentTo |
Schizophrenia, multiple episodes |
Schizophrenia, multiple episodes should be used to identify individuals experiencing symptoms that meet the diagnostic requirements for Schizophrenia and who have also previously experienced episodes during which diagnostic requirements were met, with substantial remission of symptoms between episodes. Some attenuated symptoms may remain during periods of remission, and remissions may have occurred in response to medication or other treatment. |
MONDO:0005090 |
| MONDO:0971537 |
4h leukodystrophy |
icd11.foundation:1151136209 |
MONDO:equivalentTo |
4H leukodystrophy |
|
MONDO:0019046 |
| MONDO:0971538 |
prurigo of undetermined type |
icd11.foundation:1151479901 |
MONDO:equivalentTo |
Prurigo of undetermined type |
|
MONDO:0021739 |
| MONDO:0971539 |
spondylolisthesis, thoracic region |
icd11.foundation:1151741448 |
MONDO:equivalentTo |
Spondylolisthesis, thoracic region |
|
MONDO:0008475 |
| MONDO:0971540 |
hereditary hypodysfibrinogenaemia |
icd11.foundation:1152275456 |
MONDO:equivalentTo |
Hereditary hypodysfibrinogenaemia |
This is characterised by an acute haemorrhagic state brought about by inability of the blood to clot, with massive haemorrhages into the skin producing blackish, purplish swellings and sloughing. |
MONDO:0018060 |
| MONDO:0971541 |
orthostatic proteinuria, persistent |
icd11.foundation:1152393643 |
MONDO:equivalentTo |
Orthostatic proteinuria, persistent |
A condition characterised by a continuously elevated protein excretion while in the upright position and normal protein excretion in a supine or recumbent position. |
MONDO:0004838 |
| MONDO:0971542 |
leyden-mbius muscular dystrophy |
icd11.foundation:115248641 |
MONDO:equivalentTo |
Leyden-Mbius muscular dystrophy |
|
MONDO:0016971 |
| MONDO:0971543 |
chronic progressive segmentally demyelinating neuropathy |
icd11.foundation:1152494544 |
MONDO:equivalentTo |
Chronic progressive segmentally demyelinating neuropathy |
|
MONDO:0001824 |
| MONDO:0971544 |
suppurative tonsillitis |
icd11.foundation:1152724767 |
MONDO:equivalentTo |
Suppurative tonsillitis |
|
MONDO:0020686 |
| MONDO:0971545 |
congenital symblepharon, unilateral |
icd11.foundation:1152961400 |
MONDO:equivalentTo |
Congenital symblepharon, unilateral |
This is a congenital partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. It results either from disease (conjunctival sequelae of Trachoma) or trauma. Cicatricial pemphigoid and, in severe cases, rosacea may cause symblepharon. This diagnosis is occurring in one eye. |
MONDO:0020359 |
| MONDO:0971546 |
auriculo-osteodysplasia |
icd11.foundation:1153492135 |
MONDO:equivalentTo |
Auriculo-osteodysplasia |
Auriculoosteodysplasia is a very rare condition characterised by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. |
MONDO:0800086 |
| MONDO:0971547 |
lymphatic glandular granuloma |
icd11.foundation:1154089073 |
MONDO:equivalentTo |
Lymphatic glandular granuloma |
|
MONDO:0002052 |
| MONDO:0971548 |
corneal epithelial and basement membrane dystrophy |
icd11.foundation:1154418731 |
MONDO:equivalentTo |
Corneal epithelial and basement membrane dystrophy |
|
MONDO:0018102 |
| MONDO:0971549 |
acute viral hepatitis |
icd11.foundation:1154736543 |
MONDO:equivalentTo |
Acute viral hepatitis |
A group of liver diseases characterised by liver inflammation and fibrosis, caused by more than 6 months of infection with one or more of hepatitis B virus, hepatitis C virus and hepatitis D virus, with or without HIV. Even at stage of cirrhosis there are often no symptoms. Otherwise, clinical features include fatigue, hard liver edge and complications of cirrhosis (muscle wasting, ascites, splenomegaly/portal hypertension). Transmission of hepatitis B and C viruses is by blood and body fluid contamination, sexual transmission, and from mother to baby at the time of birth (vertical transmission). In addition to detection of specific antigens (HBsAg) and antibodies (anti-HCV), diagnostic assessment requires assay of viral nucleic acids (HBV DNA, HCV RNA etc). |
MONDO:0006011 |
| MONDO:0971550 |
book syndrome |
icd11.foundation:1155362378 |
MONDO:equivalentTo |
Book syndrome |
Bk syndrome is the association of premolar aplasia, hyperhidrosis, and premature greying of the hair. |
MONDO:0019287 |
| MONDO:0971551 |
laing distal myopathy |
icd11.foundation:1155662121 |
MONDO:equivalentTo |
Laing distal myopathy |
Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is an autosomal dominant muscle disease characterised by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. |
MONDO:0018949 |
| MONDO:0971552 |
juvenile dermatomyositis with myocarditis |
icd11.foundation:1155777024 |
MONDO:equivalentTo |
Juvenile dermatomyositis with myocarditis |
Juvenile dermatomyositis with myocarditis is an early-onset systemic inflammatory disorders affecting the skeletal muscles, the skin, and the heart. Symptomatic cardiac involvement is uncommon in acute disease, but up to 50% of dermatomyositis patients will have asymptomatic cardiac involvement on non-invasive testing. Early detection of myocarditis significantly affects survival given that cardiac complications are a more common cause of death. |
MONDO:0008054 |
| MONDO:0971553 |
coronary artery hypoplasia |
icd11.foundation:1156062809 |
MONDO:equivalentTo |
Coronary artery hypoplasia |
A congenital cardiac malformation in which one or more coronary arteries have an abnormally reduced length or lumen diameter. |
MONDO:0015203 |
| MONDO:0971554 |
adynamic pneumonia |
icd11.foundation:1156467483 |
MONDO:equivalentTo |
Adynamic pneumonia |
|
MONDO:0005249 |
| MONDO:0971555 |
desmoplastic infantile astrocytoma or ganglioglioma |
icd11.foundation:1156758652 |
MONDO:equivalentTo |
Desmoplastic infantile astrocytoma or ganglioglioma |
|
MONDO:0016729 |
| MONDO:0971556 |
restrictive cardiomyopathy due to drugs |
icd11.foundation:1157050522 |
MONDO:equivalentTo |
Restrictive cardiomyopathy due to drugs |
|
MONDO:0016345 |
| MONDO:0971557 |
asymmetrical hypertrophy |
icd11.foundation:1157181367 |
MONDO:equivalentTo |
Asymmetrical hypertrophy |
|
MONDO:0005045 |
| MONDO:0971558 |
pictorial aphasia |
icd11.foundation:1157272508 |
MONDO:equivalentTo |
Pictorial aphasia |
|
MONDO:0000598 |
| MONDO:0971559 |
gastritis due to diseases classified elsewhere |
icd11.foundation:1157542233 |
MONDO:equivalentTo |
Gastritis due to diseases classified elsewhere |
Inflammation of the stomach due to other diseases classified elsewhere, such as sarcoidosis and vasculitis. |
MONDO:0004966 |
| MONDO:0971560 |
osteoporosis in multiple myelomatosis |
icd11.foundation:115777979 |
MONDO:equivalentTo |
Osteoporosis in multiple myelomatosis |
This is a disease of bones that leads to an increased risk of fracture. In osteoporosis, the bone mineral density (BMD) is reduced, bone microarchitecture deteriorates, and the amount and variety of proteins in bone are altered. This diagnosis is in a cancer of plasma cells, a type of white blood cell normally responsible for producing antibodies. |
MONDO:0009693 |
| MONDO:0971561 |
hereditary orotic aciduria type 2 |
icd11.foundation:1158203232 |
MONDO:equivalentTo |
Hereditary orotic aciduria type 2 |
|
MONDO:0009797 |
| MONDO:0971562 |
cyst of craniobuccal pouch |
icd11.foundation:1159533788 |
MONDO:equivalentTo |
Cyst of craniobuccal pouch |
|
MONDO:0015127 |
| MONDO:0971563 |
peritoneal abscess |
icd11.foundation:1159629836 |
MONDO:equivalentTo |
Peritoneal abscess |
A confined collection of inflammatory exudate in peritonitis. |
MONDO:0004522 |
| MONDO:0971564 |
essential (primary) hypertension, unspecified, without mention of hypertensive crisis |
icd11.foundation:1160249934 |
MONDO:equivalentTo |
Essential (primary) hypertension, unspecified, without mention of hypertensive crisis |
Essential (primary) hypertension, accounting for 95% of all cases of hypertension, is defined as high blood pressure for which a secondary cause cannot be found. [Hurst, P1550]. |
MONDO:0001134 |
| MONDO:0971565 |
long qt syndrome type 5 |
icd11.foundation:1160601997 |
MONDO:equivalentTo |
Long QT syndrome type 5 |
This is an autosomal dominant relatively uncommon form of LQTS. It involves mutations in the gene KCNE1, which encodes for the potassium channel beta subunit MinK. In its rare homozygous forms, it can lead to Jervell and Lange-Nielsen syndrome. |
MONDO:0019171 |
| MONDO:0971566 |
hereditary myopathy with early respiratory failure |
icd11.foundation:116175357 |
MONDO:equivalentTo |
Hereditary myopathy with early respiratory failure |
Hereditary myopathy with early respiratory failure is an adult-onset progressive myopathy characterised by early presentation of respiratory insufficiency usually during ambulant stage. Pathologically, it shares features of myofibrillar myopathy besides the key finding of cytoplasmic bodies. Its causative gene TTN, which encodes a gigantic protein titin, is known to be causative also for tibial muscular dystrophy, limb girdle muscular dystrophy type 2J, early-onset myopathy with fatal cardiomyopathy and dilated or hypertrophic cardiomyopathy. |
MONDO:0020121 |
| MONDO:0971567 |
actinomycotic meningitis |
icd11.foundation:116189668 |
MONDO:equivalentTo |
Actinomycotic meningitis |
|
MONDO:0005631 |
| MONDO:0971568 |
chronic pharyngolaryngitis |
icd11.foundation:1162426211 |
MONDO:equivalentTo |
Chronic pharyngolaryngitis |
|
MONDO:0001369 |
| MONDO:0971569 |
congenital shoulder dislocation, unilateral |
icd11.foundation:1162476493 |
MONDO:equivalentTo |
Congenital shoulder dislocation, unilateral |
|
MONDO:0017468 |
| MONDO:0971570 |
squamous cell carcinoma of fallopian tube |
icd11.foundation:1163039467 |
MONDO:equivalentTo |
Squamous cell carcinoma of fallopian tube |
A rare squamous cell carcinoma that arises from the fallopian tube. |
MONDO:0002158 |
| MONDO:0971571 |
monostotic fibrous dysplasia, vertebral column |
icd11.foundation:116343377 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, vertebral column |
|
MONDO:0019665 |
| MONDO:0971572 |
solitary plasmacytoma of bone |
icd11.foundation:1163480196 |
MONDO:equivalentTo |
Solitary plasmacytoma of bone |
A localised clonal (malignant) plasma cell infiltrate in the bone. X-rays examination reveals a solitary lytic lesion. |
MONDO:0005615 |
| MONDO:0971573 |
hirschsprung disease with pigmentary anomaly |
icd11.foundation:1163754278 |
MONDO:equivalentTo |
Hirschsprung disease with pigmentary anomaly |
|
MONDO:0019518 |
| MONDO:0971574 |
ankyloblepharon filiforme adnatum, unilateral |
icd11.foundation:1163854298 |
MONDO:equivalentTo |
Ankyloblepharon filiforme adnatum, unilateral |
|
MONDO:0019626 |
| MONDO:0971575 |
malignant endometrioid adenofibroma of ovary |
icd11.foundation:1164069451 |
MONDO:equivalentTo |
Malignant endometrioid adenofibroma of ovary |
|
MONDO:0008170 |
| MONDO:0971576 |
osteonecrosis due to trauma, pelvic region or thigh |
icd11.foundation:1164120070 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, pelvic region or thigh |
|
MONDO:0018375 |
| MONDO:0971577 |
hypertrophic prostatitis |
icd11.foundation:1164151828 |
MONDO:equivalentTo |
Hypertrophic prostatitis |
|
MONDO:0022103 |
| MONDO:0971578 |
transposition of the great arteries with concordant atrioventricular connections and ventricular septal defect |
icd11.foundation:1165313598 |
MONDO:equivalentTo |
Transposition of the great arteries with concordant atrioventricular connections and ventricular septal defect |
A congenital cardiovascular malformation in which the morphologically right atrium connects to the morphologically right ventricle, the morphologically left atrium connects to the morphologically left ventricle, the morphologically right ventricle connects to the aorta, the morphologically left ventricle connects to the pulmonary trunk, and one or more ventricular septal defects are present. |
MONDO:0000153 |
| MONDO:0971579 |
magnocellular naevus of ciliary body |
icd11.foundation:1165446116 |
MONDO:equivalentTo |
Magnocellular naevus of ciliary body |
|
MONDO:0021486 |
| MONDO:0971580 |
lichen planus of genital skin and mucous membranes |
icd11.foundation:1166462335 |
MONDO:equivalentTo |
Lichen planus of genital skin and mucous membranes |
Lichen planus of genital mucous membranes tends to be mild in men but may give rise to concern about sexually-transmitted infection. Although it may be asymptomatic in women the severe erosive form may cause mark pain and disability. |
MONDO:0006572 |
| MONDO:0971581 |
micromelic dwarfism, fryns type |
icd11.foundation:116656072 |
MONDO:equivalentTo |
Micromelic dwarfism, Fryns type |
|
MONDO:0016763 |
| MONDO:0971582 |
solitary giant trichoblastoma |
icd11.foundation:1166607941 |
MONDO:equivalentTo |
Solitary giant trichoblastoma |
|
MONDO:0020593 |
| MONDO:0971583 |
trichinosis due to trichinella nelsoni |
icd11.foundation:11668879 |
MONDO:equivalentTo |
Trichinosis due to Trichinella nelsoni |
|
MONDO:0019444 |
| MONDO:0971584 |
hyperornithinaemia |
icd11.foundation:1167147004 |
MONDO:equivalentTo |
Hyperornithinaemia |
Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency. The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence. |
MONDO:0017356 |
| MONDO:0971585 |
malaria due to plasmodium ovale |
icd11.foundation:1168452782 |
MONDO:equivalentTo |
Malaria due to Plasmodium ovale |
A disease caused by an infection with the protozoan parasite Plasmodium ovale. This disease is characterised by fever, chills, headache, nausea and vomiting, body aches, or general malaise. Transmission is through the bite of an infected mosquito. Confirmation is by identification of Plasmodium ovale in a blood sample. |
MONDO:0005136 |
| MONDO:0971586 |
drug-induced osteonecrosis |
icd11.foundation:1168864722 |
MONDO:equivalentTo |
Drug-induced osteonecrosis |
Alteration of the normal structure of orofacial tissues resulting from medicinal substances acting locally or systemically. |
MONDO:0005380 |
| MONDO:0971587 |
osteoporosis due to sex hormone deficiency |
icd11.foundation:1169165086 |
MONDO:equivalentTo |
Osteoporosis due to sex hormone deficiency |
|
MONDO:0005298 |
| MONDO:0971588 |
fibrodysplasia ossificans progressiva, upper arm |
icd11.foundation:1169949744 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, upper arm |
|
MONDO:0007606 |
| MONDO:0971589 |
combined oxidative phosphorylation deficiency type 4 |
icd11.foundation:1170105564 |
MONDO:equivalentTo |
Combined oxidative phosphorylation deficiency type 4 |
This is the combined oxiedative deficiency addition of a phosphate (PO43-) group to a protein or other organic molecule. This diagnosis is type 4. |
MONDO:0000732 |
| MONDO:0971590 |
osteoporosis of disuse |
icd11.foundation:117071728 |
MONDO:equivalentTo |
Osteoporosis of disuse |
|
MONDO:0005298 |
| MONDO:0971591 |
ulcerative proctitis |
icd11.foundation:1170766352 |
MONDO:equivalentTo |
Ulcerative proctitis |
|
MONDO:0005101 |
| MONDO:0971592 |
enteritis due to cholera due to vibrio cholerae, non-o1 strains |
icd11.foundation:1170831944 |
MONDO:equivalentTo |
Enteritis due to cholera due to Vibrio cholerae, non-O1 strains |
|
MONDO:0015766 |
| MONDO:0971593 |
laryngeal myiasis |
icd11.foundation:1171166323 |
MONDO:equivalentTo |
Laryngeal myiasis |
|
MONDO:0019147 |
| MONDO:0971594 |
malignant arrhenoblastoma, unspecified site, female |
icd11.foundation:1171811317 |
MONDO:equivalentTo |
Malignant arrhenoblastoma, unspecified site, female |
|
MONDO:0008170 |
| MONDO:0971595 |
keratoconus in down syndrome |
icd11.foundation:1172059041 |
MONDO:equivalentTo |
Keratoconus in Down syndrome |
|
MONDO:0015486 |
| MONDO:0971596 |
pleural aspergillosis |
icd11.foundation:1172131093 |
MONDO:equivalentTo |
Pleural aspergillosis |
|
MONDO:0000240 |
| MONDO:0971597 |
pulmonary blastomycosis |
icd11.foundation:1172189898 |
MONDO:equivalentTo |
Pulmonary blastomycosis |
A disease of the pulmonary system, caused by an infection with the fungi Blastomyces dermatitidis. This disease is characterised by fever, chills, cough, myalgia, arthralgia, or chest pain. This disease may present with acute or chronic symptoms. Transmission is by inhalation of fungal spores. Confirmation is by identification of Blastomyces dermatitidis in a urine, cerebrospinal fluid, or blood sample. |
MONDO:0005672 |
| MONDO:0971598 |
familial hemiplegic migraine 3 |
icd11.foundation:1172417017 |
MONDO:equivalentTo |
Familial hemiplegic migraine 3 |
|
MONDO:0000700 |
| MONDO:0971599 |
acute or subacute infectious endocarditis, laterality not specified |
icd11.foundation:117254574 |
MONDO:equivalentTo |
Acute or subacute infectious endocarditis, laterality not specified |
|
MONDO:0000565 |
| MONDO:0971600 |
severe dystrophin-deficient duchenne muscular dystrophy |
icd11.foundation:1172932601 |
MONDO:equivalentTo |
Severe dystrophin-deficient Duchenne muscular dystrophy |
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterised by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. DMD primarily affects males, females are usually asymptomatic but a small percentage of female carriers manifest milder forms of the disease. |
MONDO:0010679 |
| MONDO:0971601 |
osteoma of choroid |
icd11.foundation:117307134 |
MONDO:equivalentTo |
Osteoma of choroid |
|
MONDO:0021487 |
| MONDO:0971602 |
familial osteochondritis dissecans |
icd11.foundation:117325330 |
MONDO:equivalentTo |
Familial osteochondritis dissecans |
Familial osteochondritis dissecans is a rare genetic skeletal disorder characterised clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. |
MONDO:0018381 |
| MONDO:0971603 |
osteoporosis due to pregnancy or lactation |
icd11.foundation:1173505020 |
MONDO:equivalentTo |
Osteoporosis due to pregnancy or lactation |
|
MONDO:0005298 |
| MONDO:0971604 |
benign neoplasm of head of pancreas |
icd11.foundation:1173954121 |
MONDO:equivalentTo |
Benign neoplasm of head of pancreas |
|
MONDO:0021470 |
| MONDO:0971605 |
multiple-level intestinal atresia |
icd11.foundation:1174006018 |
MONDO:equivalentTo |
Multiple-level intestinal atresia |
Multiple intestinal atresia is a rare form of intestinal atresia characterised by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns |
MONDO:0009476 |
| MONDO:0971606 |
expressive-receptive aphasia |
icd11.foundation:1174264038 |
MONDO:equivalentTo |
Expressive-receptive aphasia |
|
MONDO:0000598 |
| MONDO:0971607 |
osteochondrosis of lesser trochanter of femur |
icd11.foundation:1174677233 |
MONDO:equivalentTo |
Osteochondrosis of lesser trochanter of femur |
|
MONDO:0018381 |
| MONDO:0971608 |
profound simultanagnosia |
icd11.foundation:1175782057 |
MONDO:equivalentTo |
Profound Simultanagnosia |
|
MONDO:0000678 |
| MONDO:0971609 |
benign neoplasm of nasopharyngeal roof |
icd11.foundation:1176143217 |
MONDO:equivalentTo |
Benign neoplasm of nasopharyngeal roof |
|
MONDO:0021478 |
| MONDO:0971610 |
fungal pneumonia |
icd11.foundation:1176185297 |
MONDO:equivalentTo |
Fungal pneumonia |
|
MONDO:0005249 |
| MONDO:0971611 |
paraneoplastic erythema nodosum |
icd11.foundation:1176563999 |
MONDO:equivalentTo |
Paraneoplastic erythema nodosum |
Erythema nodosum attributable to underlying malignancy. Hodgkin disease has been most consistently implicated as the trigger. |
MONDO:0850231 |
| MONDO:0971612 |
paediatric-onset mixed connective tissue disease |
icd11.foundation:1177501941 |
MONDO:equivalentTo |
Paediatric-onset mixed connective tissue disease |
|
MONDO:0005854 |
| MONDO:0971613 |
obstructive tracheobronchitis, not elsewhere classified |
icd11.foundation:1178388379 |
MONDO:equivalentTo |
Obstructive tracheobronchitis, not elsewhere classified |
|
MONDO:0021925 |
| MONDO:0971614 |
undifferentiated retinoblastoma |
icd11.foundation:117845898 |
MONDO:equivalentTo |
Undifferentiated retinoblastoma |
|
MONDO:0008380 |
| MONDO:0971615 |
benign neoplasm of body of pancreas |
icd11.foundation:1178950751 |
MONDO:equivalentTo |
Benign neoplasm of body of pancreas |
|
MONDO:0021470 |
| MONDO:0971616 |
early syphilis |
icd11.foundation:1179111584 |
MONDO:equivalentTo |
Early syphilis |
A disease caused by an infection with the gram-negative bacteria Treponema pallidum pallidum, including primary and secondary stages of syphilis, and early latent syphilis of less than 2 years duration. This disease is characterised by a single chancre in the primary stage, and diffuse rash in the secondary stage. Transmission is commonly by sexual contact. |
MONDO:0005976 |
| MONDO:0971617 |
yolk sac tumour of unspecified site, male |
icd11.foundation:1179897801 |
MONDO:equivalentTo |
Yolk sac tumour of unspecified site, male |
|
MONDO:0021447 |
| MONDO:0971618 |
calcific tendinitis of shoulder |
icd11.foundation:1180340197 |
MONDO:equivalentTo |
Calcific tendinitis of shoulder |
This is a disorder characterised by deposits of hydroxyapatite in any tendon of the shoulder causing inflammation and pain. |
MONDO:0001903 |
| MONDO:0971619 |
congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
icd11.foundation:1180368331 |
MONDO:equivalentTo |
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
|
MONDO:0005377 |
| MONDO:0971620 |
papulopustular rosacea |
icd11.foundation:1180512715 |
MONDO:equivalentTo |
Papulopustular rosacea |
Papulopustular rosacea is characterised, as the name implies, by erythematous papules and sterile pustules affecting facial skin. These are typically located on the cheeks, central chin, nose and central forehead. The perilesional skin is inflamed and may be oedematous. In contradistinction to papulopustular acne, comedones, nodules and cysts are not a feature. |
MONDO:0006604 |
| MONDO:0971621 |
hypoproteinaemia |
icd11.foundation:1180782913 |
MONDO:equivalentTo |
Hypoproteinaemia |
|
MONDO:0017731 |
| MONDO:0971622 |
transient vision loss, spontaneous, complete resolution within 1 to 24 hours |
icd11.foundation:1180967557 |
MONDO:equivalentTo |
Transient vision loss, spontaneous, complete resolution within 1 to 24 hours |
|
MONDO:0043310 |
| MONDO:0971623 |
shigellosis due to shigella dysenteriae |
icd11.foundation:1181145033 |
MONDO:equivalentTo |
Shigellosis due to Shigella dysenteriae |
A condition caused by an infection with the gram-negative bacteria Shigella dysenteriae. This condition is characterised by diarrhoea, fever, or stomach cramps. Transmission is commonly by the faecal-oral route, potentially by ingestion of contaminated foods, or direct contact. Confirmation is by identification of Shigella dysenteriae in a faecal sample. |
MONDO:0019345 |
| MONDO:0971624 |
long qt syndrome type 3 |
icd11.foundation:1181962223 |
MONDO:equivalentTo |
Long QT syndrome type 3 |
The LQT3 type of long QT syndrome involves mutation of the gene that encodes the alpha subunit of the Na+ ion channel. This gene is located on chromosome 3p21-24, and is known as SCN5A (also hH1 and NaV1.5). The mutations involved in LQT3 slow the inactivation of the Na+ channel, resulting in prolongation of the Na+ influx during depolarization. However, the mutant sodium channels inactivate more quickly, and may open repetitively during the action potential. |
MONDO:0019171 |
| MONDO:0971625 |
palindromic rheumatism, vertebral column |
icd11.foundation:1182140210 |
MONDO:equivalentTo |
Palindromic rheumatism, vertebral column |
|
MONDO:0001332 |
| MONDO:0971626 |
chronic myelomonocytic leukaemia in complete remission |
icd11.foundation:1182698447 |
MONDO:equivalentTo |
Chronic myelomonocytic leukaemia in complete remission |
|
MONDO:0020311 |
| MONDO:0971627 |
radiculopathy, cervical region |
icd11.foundation:1182793547 |
MONDO:equivalentTo |
Radiculopathy, cervical region |
|
MONDO:0002959 |
| MONDO:0971628 |
tuberculous enterocolitis |
icd11.foundation:1183156309 |
MONDO:equivalentTo |
Tuberculous enterocolitis |
This is an inflammation of both small intestine and colon caused by infection with Mycobacterium tuberculosis. |
MONDO:0957466 |
| MONDO:0971629 |
hyperhormonal amenorrhoea |
icd11.foundation:1183250657 |
MONDO:equivalentTo |
Hyperhormonal amenorrhoea |
|
MONDO:0001889 |
| MONDO:0971630 |
angiomatous meningioma of unspecified site |
icd11.foundation:1183304469 |
MONDO:equivalentTo |
Angiomatous meningioma of unspecified site |
|
MONDO:0016642 |
| MONDO:0971631 |
d-2-hydroxyglutarate dehydrogenase deficiency |
icd11.foundation:1183405042 |
MONDO:equivalentTo |
D-2-hydroxyglutarate dehydrogenase deficiency |
This enzymes with specificity to (R)-2-hydroxyglutarate dehydrogenase. This enzyme participates in butanoate metabolism. |
MONDO:0010924 |
| MONDO:0971632 |
sub-acute chikungunya virus disease |
icd11.foundation:1183461286 |
MONDO:equivalentTo |
Sub-acute Chikungunya virus disease |
Person with previous clinical diagnosis of chikungunya after 3 weeks (up to 11 weeks) of the onset of the symptoms presenting with at least one of the following articular manifestations: pain, rigidity, or oedema, continuously or recurrently. |
MONDO:0017941 |
| MONDO:0971633 |
polycythaemia due to hif2a mutation |
icd11.foundation:1184000817 |
MONDO:equivalentTo |
Polycythaemia due to HIF2A mutation |
|
MONDO:0007572 |
| MONDO:0971634 |
congenital oesophageal hyperplasia |
icd11.foundation:1184098558 |
MONDO:equivalentTo |
Congenital oesophageal hyperplasia |
|
MONDO:0019513 |
| MONDO:0971635 |
skeletal fluorosis, skull |
icd11.foundation:1184629696 |
MONDO:equivalentTo |
Skeletal fluorosis, skull |
|
MONDO:0400003 |
| MONDO:0971636 |
intermittent hydrarthrosis, lower leg |
icd11.foundation:1185348205 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, lower leg |
|
MONDO:0018015 |
| MONDO:0971637 |
adult-onset still disease, neck |
icd11.foundation:1185837708 |
MONDO:equivalentTo |
Adult-onset Still disease, neck |
|
MONDO:0019355 |
| MONDO:0971638 |
juvenile systemic arthritis, head |
icd11.foundation:1186906038 |
MONDO:equivalentTo |
Juvenile systemic arthritis, head |
|
MONDO:0019434 |
| MONDO:0971639 |
limb-girdle muscular dystrophy 2m, pomgnt1 gene mutation |
icd11.foundation:1187309098 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation |
Limb-girdle muscular dystrophy-2M (LGMD2M) is caused by a homozygous POMGnT1 missense mutation. It is characterised by onset is in the second decade, severe myopia, normal intellect, and decreased alpha-dystroglycan immunolabeling in skeletal muscle. |
MONDO:0015152 |
| MONDO:0971640 |
osteopetrosis with renal tubular acidosis |
icd11.foundation:1187356117 |
MONDO:equivalentTo |
Osteopetrosis with renal tubular acidosis |
Osteopetrosis with renal tubular acidosis is a form of osteopetrosis, and is marked by the classical triad: diffuse skeletal sclerosis, renal tubular acidosis and brain calcifications. |
MONDO:0017198 |
| MONDO:0971641 |
monostotic fibrous dysplasia, upper arm |
icd11.foundation:1187818046 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, upper arm |
|
MONDO:0019665 |
| MONDO:0971642 |
vegetative endocarditis |
icd11.foundation:1188025300 |
MONDO:equivalentTo |
Vegetative endocarditis |
|
MONDO:0000565 |
| MONDO:0971643 |
hydropyonephrosis |
icd11.foundation:1188174857 |
MONDO:equivalentTo |
Hydropyonephrosis |
|
MONDO:0021750 |
| MONDO:0971644 |
iris hypoplasia |
icd11.foundation:1188529378 |
MONDO:equivalentTo |
Iris hypoplasia |
|
MONDO:0011119 |
| MONDO:0971645 |
cardiomyopathy - hypotonia - lactic acidosis |
icd11.foundation:1188780559 |
MONDO:equivalentTo |
Cardiomyopathy - hypotonia - lactic acidosis |
This syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. |
MONDO:0016801 |
| MONDO:0971646 |
acute prepyloric ulcer |
icd11.foundation:1189002874 |
MONDO:equivalentTo |
Acute prepyloric ulcer |
|
MONDO:0001126 |
| MONDO:0971647 |
suppurative pulpitis |
icd11.foundation:1189755752 |
MONDO:equivalentTo |
Suppurative pulpitis |
Irreversible inflammation of the dental pulp accompanied by production of pus |
MONDO:0006937 |
| MONDO:0971648 |
paramedian facial cleft |
icd11.foundation:1189829746 |
MONDO:equivalentTo |
Paramedian facial cleft |
A condition caused by failure of the structures of the face to correctly develop during the antenatal period. This condition is characterised by a malformation positioned adjacent and parallel to the midline of the face. |
MONDO:0015411 |
| MONDO:0971649 |
alpha heavy chain disease in complete remission |
icd11.foundation:1190757305 |
MONDO:equivalentTo |
Alpha heavy chain disease in complete remission |
|
MONDO:0015045 |
| MONDO:0971650 |
measles complicated by otitis media |
icd11.foundation:1190881895 |
MONDO:equivalentTo |
Measles complicated by otitis media |
A disease caused by an infection with Morbillivirus that is complicated by an infection in the middle ear. This disease is characterised by symptoms of measles as well as inflammation of the middle ear. This disease may also present with fever, otalgia, otorrhoea, anorexia, vomiting, or diarrhoea. Transmission is by inhalation of infected respiratory secretions, airborne transmission or direct contact. Confirmation is by detection of Morbillivirus RNA, measles-specific IgM antibodies and pneumatic otoscopy. |
MONDO:0004619 |
| MONDO:0971651 |
x-linked intellectual deficit, golabi-ito-hall type |
icd11.foundation:1190955738 |
MONDO:equivalentTo |
X-linked intellectual deficit, Golabi-Ito-Hall type |
Golabi-Ito-Hall syndrome is an X-linked intellectual disability (XLMR; ) characterised by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome . |
MONDO:0010653 |
| MONDO:0971652 |
retroperitonitis |
icd11.foundation:1191667556 |
MONDO:equivalentTo |
Retroperitonitis |
|
MONDO:0004522 |
| MONDO:0971653 |
submucous fibrosis of tongue |
icd11.foundation:1191819448 |
MONDO:equivalentTo |
Submucous fibrosis of tongue |
|
MONDO:0018166 |
| MONDO:0971654 |
distal duplications of the short arm of chromosome 6 |
icd11.foundation:119220957 |
MONDO:equivalentTo |
Distal duplications of the short arm of chromosome 6 |
|
MONDO:0016943 |
| MONDO:0971655 |
contraction of ureterovesical orifice with infection |
icd11.foundation:119289720 |
MONDO:equivalentTo |
Contraction of ureterovesical orifice with infection |
|
MONDO:0021750 |
| MONDO:0971656 |
postvagotomy syndrome |
icd11.foundation:1193624550 |
MONDO:equivalentTo |
Postvagotomy syndrome |
|
MONDO:0001979 |
| MONDO:0971657 |
mannosidosis, not otherwise specified |
icd11.foundation:1193907152 |
MONDO:equivalentTo |
Mannosidosis, not otherwise specified |
|
MONDO:0019251 |
| MONDO:0971658 |
acute healed duodenal ulcer |
icd11.foundation:1193938623 |
MONDO:equivalentTo |
Acute healed duodenal ulcer |
|
MONDO:0005412 |
| MONDO:0971659 |
isochromosome yq |
icd11.foundation:1194078836 |
MONDO:equivalentTo |
Isochromosome Yq |
|
MONDO:0019935 |
| MONDO:0971660 |
diffuse pulmonary developmental disorders |
icd11.foundation:1194991864 |
MONDO:equivalentTo |
Diffuse pulmonary developmental disorders |
|
MONDO:0017015 |
| MONDO:0971661 |
systemic lupus erythematosus with lung involvement |
icd11.foundation:1195988325 |
MONDO:equivalentTo |
Systemic lupus erythematosus with lung involvement |
|
MONDO:0007915 |
| MONDO:0971662 |
recurrent cholangitis |
icd11.foundation:1196624595 |
MONDO:equivalentTo |
Recurrent cholangitis |
|
MONDO:0004789 |
| MONDO:0971663 |
cachecticorum acne |
icd11.foundation:1196663856 |
MONDO:equivalentTo |
Cachecticorum acne |
|
MONDO:0011438 |
| MONDO:0971664 |
hypermethioninaemia due to adenosine kinase deficiency |
icd11.foundation:119731291 |
MONDO:equivalentTo |
Hypermethioninaemia due to adenosine kinase deficiency |
This is an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. This diagnosis is due to adenosine kinase deficiency. |
MONDO:0019222 |
| MONDO:0971665 |
other types of charcot-marie-tooth disease |
icd11.foundation:119775362 |
MONDO:equivalentTo |
Other types of Charcot-Marie-Tooth disease |
|
MONDO:0015358 |
| MONDO:0971666 |
hidradenomes ruptifs |
icd11.foundation:1197839444 |
MONDO:equivalentTo |
Hidradenomes ruptifs |
|
MONDO:0002191 |
| MONDO:0971667 |
spastic hemiplegia of unspecified side |
icd11.foundation:11981914 |
MONDO:equivalentTo |
Spastic hemiplegia of unspecified side |
|
MONDO:0001168 |
| MONDO:0971668 |
atopic eczema, special forms |
icd11.foundation:1198890025 |
MONDO:equivalentTo |
Atopic eczema, special forms |
Forms of atopic eczema of therapeutic or other significance |
MONDO:0004980 |
| MONDO:0971669 |
bullous pemphigoid variants |
icd11.foundation:119916144 |
MONDO:equivalentTo |
Bullous pemphigoid variants |
Less common variants of bullous pemphigoid include lichen planus pemphigoides, localised pemphigoid, vulval pemphigoid and pemphigoid nodularis. |
MONDO:0850301 |
| MONDO:0971670 |
deafness - encephaloneuropathy - obesity - valvulopathy |
icd11.foundation:1199266019 |
MONDO:equivalentTo |
Deafness - encephaloneuropathy - obesity - valvulopathy |
|
MONDO:0018151 |
| MONDO:0971671 |
erysipelas of lower limb |
icd11.foundation:1200236878 |
MONDO:equivalentTo |
Erysipelas of lower limb |
|
MONDO:0001266 |
| MONDO:0971672 |
juvenile systemic arthritis, hand |
icd11.foundation:1200494559 |
MONDO:equivalentTo |
Juvenile systemic arthritis, hand |
|
MONDO:0019434 |
| MONDO:0971673 |
gonococcal bursitis, multiple sites |
icd11.foundation:1200746980 |
MONDO:equivalentTo |
Gonococcal bursitis, multiple sites |
|
MONDO:0001719 |
| MONDO:0971674 |
lederer anaemia |
icd11.foundation:1203209630 |
MONDO:equivalentTo |
Lederer anaemia |
|
MONDO:0019532 |
| MONDO:0971675 |
retinopathy of prematurity, stage 4 |
icd11.foundation:1203242688 |
MONDO:equivalentTo |
Retinopathy of prematurity, Stage 4 |
Stage 4: Partial Retinal Detachment: Stage 4, in the initial classification was the final stage and initially known as the cicatricial phase. It was later divided into extrafoveal (stage 4A) and foveal (stage 4B) partial retinal detachments. Stage 4 retinal detachments are generally concave and most are circumferentially oriented. Retinal detachments usually begin at the point of fibrovascular attachment to the vascularized retina and the extent of detachment depends on the amount of neovascularization present. |
MONDO:0006952 |
| MONDO:0971676 |
malaria due to plasmodium vivax |
icd11.foundation:1203794080 |
MONDO:equivalentTo |
Malaria due to Plasmodium vivax |
A disease caused by an infection with the protozoan parasite Plasmodium vivax. This disease is characterised by fever, chills, headache, nausea and vomiting, body aches, or general malaise. Transmission is through the bite of an infected mosquito. Confirmation is by identification of Plasmodium vivax in a blood sample. |
MONDO:0005136 |
| MONDO:0971677 |
acute abscess of breast |
icd11.foundation:1203854229 |
MONDO:equivalentTo |
Acute abscess of breast |
|
MONDO:0000749 |
| MONDO:0971678 |
myoadenylate deaminase deficiency |
icd11.foundation:1204172345 |
MONDO:equivalentTo |
Myoadenylate deaminase deficiency |
This refers to deficiency in an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP), freeing an ammonia molecule in the process. |
MONDO:0019236 |
| MONDO:0971679 |
extramedullary plasmacytoma in complete remission |
icd11.foundation:1204242229 |
MONDO:equivalentTo |
Extramedullary plasmacytoma in complete remission |
|
MONDO:0002754 |
| MONDO:0971680 |
autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language |
icd11.foundation:120443468 |
MONDO:equivalentTo |
Autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language |
All definitional requirements for autism spectrum disorder are met, intellectual functioning and adaptive behaviour are found to be at least within the average range (approximately greater than the 2.3rd percentile), and there is only mild or no impairment in the individual's capacity to use functional language (spoken or signed) for instrumental purposes, such as to express personal needs and desires. |
MONDO:0005258 |
| MONDO:0971681 |
disseminated lyme borreliosis |
icd11.foundation:120524401 |
MONDO:equivalentTo |
Disseminated Lyme borreliosis |
|
MONDO:0019632 |
| MONDO:0971682 |
myasthenia gravis, autoimmune acquired |
icd11.foundation:1205670816 |
MONDO:equivalentTo |
Myasthenia gravis, autoimmune acquired |
Acquired myasthenia gravis is an autoimmune disorder of the neuromuscular junction characterised by fluctuating muscular weakness that often affects selected muscle groups preferentially. The pathophysiological result is muscle endplate dysfunction and consequent fatigable weakness. Subtypes are broadly classified as: early-onset myasthenia gravis (<50 years); late-onset myasthenia gravis (>50 years); thymoma-associated myasthenia gravis; myasthenia gravis with anti-muscle-specific receptor tyrosine kinase antibodies; ocular myasthenia gravis; myasthenia gravis with no detectable antibodies. |
MONDO:0009688 |
| MONDO:0971683 |
childhood atopic eczema |
icd11.foundation:1205902774 |
MONDO:equivalentTo |
Childhood atopic eczema |
Atopic eczema in children and adolescents first presenting or continuing after infancy up to age 19 years. Its prevalence is highest in northern latitudes (e.g. nearly 20% in Norwegian children as compared with 0.7% in Tanzanian children). The sites most characteristically involved are the elbow and knee flexures, sides of the neck, wrists and ankles. As the disease progresses, lichenification (skin thickening) becomes a typical clinical feature, especially in areas that can be easily reached and scratched. Discoid variants are more common in children of African and Asian ancestry. |
MONDO:0004980 |
| MONDO:0971684 |
cholera due to vibrio cholerae o1, biovar cholerae |
icd11.foundation:1205958647 |
MONDO:equivalentTo |
Cholera due to Vibrio cholerae O1, biovar cholerae |
|
MONDO:0015766 |
| MONDO:0971685 |
peritoneal fistula |
icd11.foundation:1206034420 |
MONDO:equivalentTo |
Peritoneal fistula |
|
MONDO:0004522 |
| MONDO:0971686 |
cerebral lipidosis myoclonic variant |
icd11.foundation:1206396646 |
MONDO:equivalentTo |
Cerebral lipidosis myoclonic variant |
|
MONDO:0016295 |
| MONDO:0971687 |
adenocarcinoma of upper third of oesophagus |
icd11.foundation:1206556969 |
MONDO:equivalentTo |
Adenocarcinoma of upper third of oesophagus |
|
MONDO:0005028 |
| MONDO:0971688 |
charcot-marie-tooth disease 1 demyelinating |
icd11.foundation:1207560843 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease 1 demyelinating |
|
MONDO:0015358 |
| MONDO:0971689 |
ethmoid infection |
icd11.foundation:1207800175 |
MONDO:equivalentTo |
Ethmoid infection |
|
MONDO:0004757 |
| MONDO:0971690 |
lethal congenital contracture syndrome type 2 |
icd11.foundation:1207805168 |
MONDO:equivalentTo |
Lethal congenital contracture syndrome type 2 |
|
MONDO:0017436 |
| MONDO:0971691 |
type ii renal tubular acidosis |
icd11.foundation:1207939938 |
MONDO:equivalentTo |
Type II renal tubular acidosis |
This is a type of renal tubular acidosis caused by a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent increased acidity of the blood (acidemia). |
MONDO:0001909 |
| MONDO:0971692 |
hypertensive heart disease without heart failure |
icd11.foundation:1208029865 |
MONDO:equivalentTo |
Hypertensive heart disease without heart failure |
Uncontrolled and prolonged hypertension can lead to changes in the myocardial structure, coronary vasculature, and conduction system of the heart. These may occur without congestive heart failure. |
MONDO:0001302 |
| MONDO:0971693 |
ankylosing vertebral hyperostosis with tylosis |
icd11.foundation:120916486 |
MONDO:equivalentTo |
Ankylosing vertebral hyperostosis with tylosis |
This syndrome is characterised by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. It has been described in at least eight patients, in four sibships spanning two generations of a Greek-Cypriot family. Six other members of the family presented with palmoplantar hyperkeratosis alone. This syndrome is likely to be transmitted as an autosomal dominant trait. It is distinct from diffuse idiopathic skeletal hyperostosis (DISH) which is not a rare disease. |
MONDO:0019711 |
| MONDO:0971694 |
congenital hyperplasia of trachea |
icd11.foundation:120925849 |
MONDO:equivalentTo |
Congenital hyperplasia of trachea |
|
MONDO:0015505 |
| MONDO:0971695 |
severe haemophilia b |
icd11.foundation:1209364172 |
MONDO:equivalentTo |
Severe haemophilia B |
Severe haemophilia B is a form of haemophilia B (see this term) characterised by a large deficiency of factor IX leading to frequent spontaneous haemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Severe haemophilia B accounts for around 40% of all cases of haemophilia B. The biological activity of factor IX is below 1%. Transmission is X-linked recessive and the disorder is caused by mutations in the F9 gene (Xq28) encoding coagulation factor IX. |
MONDO:0010604 |
| MONDO:0971696 |
renal agenesis, bilateral |
icd11.foundation:1209728480 |
MONDO:equivalentTo |
Renal agenesis, bilateral |
A condition in which both kidneys do not form or develop in utero. Generally presents as in utero renal failure with anhydramnios and Potter syndrome. Generally not compatible with post-natal survival related to complications from Potter syndrome. |
MONDO:0018470 |
| MONDO:0971697 |
endometriosis of uterus |
icd11.foundation:1210621332 |
MONDO:equivalentTo |
Endometriosis of uterus |
|
MONDO:0010888 |
| MONDO:0971698 |
mediastinal emphysema |
icd11.foundation:121109203 |
MONDO:equivalentTo |
Mediastinal emphysema |
|
MONDO:0000923 |
| MONDO:0971699 |
basilar artery aneurysm |
icd11.foundation:1211153302 |
MONDO:equivalentTo |
Basilar artery aneurysm |
|
MONDO:0019543 |
| MONDO:0971700 |
hyperparathyroid osteodystrophy |
icd11.foundation:1211399141 |
MONDO:equivalentTo |
Hyperparathyroid osteodystrophy |
|
MONDO:0006964 |
| MONDO:0971701 |
carcinoma in situ of posterior wall of oropharynx |
icd11.foundation:1212801753 |
MONDO:equivalentTo |
Carcinoma in situ of posterior wall of oropharynx |
|
MONDO:0021298 |
| MONDO:0971702 |
hydrocephalus due to congenital toxoplasmosis |
icd11.foundation:1214391989 |
MONDO:equivalentTo |
Hydrocephalus due to congenital toxoplasmosis |
|
MONDO:0005715 |
| MONDO:0971703 |
complement component c2 deficiency |
icd11.foundation:1215018688 |
MONDO:equivalentTo |
Complement component C2 deficiency |
|
MONDO:0015699 |
| MONDO:0971704 |
cauda equina syndrome due to medical procedure |
icd11.foundation:1215064355 |
MONDO:equivalentTo |
Cauda equina syndrome due to medical procedure |
Narrowing, compression or dysfunction of the cauda equina is related to an intervention such as surgery, epidural procedure, lumbar puncture or any local intervention leading to infection or bleeding which leads to narrowing of the lumbar canal. |
MONDO:0005693 |
| MONDO:0971705 |
cluster of differentiation 20 deficiency |
icd11.foundation:1215071344 |
MONDO:equivalentTo |
Cluster of differentiation 20 deficiency |
|
MONDO:0015517 |
| MONDO:0971706 |
benign neoplasm of tonsillar fossa |
icd11.foundation:1215160896 |
MONDO:equivalentTo |
Benign neoplasm of tonsillar fossa |
|
MONDO:0021479 |
| MONDO:0971707 |
infectious tenosynovitis |
icd11.foundation:1215327979 |
MONDO:equivalentTo |
Infectious tenosynovitis |
|
MONDO:0004855 |
| MONDO:0971708 |
gonococcal bursitis, ribs |
icd11.foundation:1215364226 |
MONDO:equivalentTo |
Gonococcal bursitis, ribs |
|
MONDO:0001719 |
| MONDO:0971709 |
mixed cerebral palsy syndromes |
icd11.foundation:1215784069 |
MONDO:equivalentTo |
Mixed cerebral palsy syndromes |
|
MONDO:0006497 |
| MONDO:0971710 |
congenital absence of upper arm or forearm with hand present, bilateral |
icd11.foundation:1216194381 |
MONDO:equivalentTo |
Congenital absence of upper arm or forearm with hand present, bilateral |
|
MONDO:0017441 |
| MONDO:0971711 |
chronic tracheobronchitis |
icd11.foundation:1216686786 |
MONDO:equivalentTo |
Chronic tracheobronchitis |
|
MONDO:0005607 |
| MONDO:0971712 |
parapagus |
icd11.foundation:1216766869 |
MONDO:equivalentTo |
Parapagus |
A condition characterised as conjoined twins in which there is a single pelvis and set of lower extremities with two distinct trunks, sets of upper extremities, and heads. The trunks are conjoined laterally so that both faces are forward looking in the same plane. |
MONDO:0958083 |
| MONDO:0971713 |
benign neoplasm of posterior wall of oropharynx |
icd11.foundation:1216879312 |
MONDO:equivalentTo |
Benign neoplasm of posterior wall of oropharynx |
|
MONDO:0021479 |
| MONDO:0971714 |
alcohol withdrawal with seizures |
icd11.foundation:1217641719 |
MONDO:equivalentTo |
Alcohol withdrawal with seizures |
All diagnostic requirements for Alcohol withdrawal are met and the withdrawal state is accompanied by seizures (i.e., generalised tonic-clonic seizures) but not by perceptual disturbances. |
MONDO:0005433 |
| MONDO:0971715 |
anetoderma of jadassohn-pellizzari |
icd11.foundation:1218505540 |
MONDO:equivalentTo |
Anetoderma of Jadassohn-Pellizzari |
|
MONDO:0016444 |
| MONDO:0971716 |
osler node |
icd11.foundation:1219323740 |
MONDO:equivalentTo |
Osler node |
|
MONDO:0000565 |
| MONDO:0971717 |
paralytic ileus of small intestine |
icd11.foundation:1220146782 |
MONDO:equivalentTo |
Paralytic ileus of small intestine |
A type of ileus, a functional not mechanical obstruction of the small intestines, and a state of pathophysiologic inhibition of motor activity that is confined in small intestine. |
MONDO:0004568 |
| MONDO:0971718 |
pulmonary paracoccidioidomycosis |
icd11.foundation:1220568868 |
MONDO:equivalentTo |
Pulmonary paracoccidioidomycosis |
A disease of the pulmonary system, caused by an infection with the fungi Paracoccidioides brasiliensis. This disease is characterised by fever, cough, dyspnoea, or malaise. Transmission is by inhalation of fungal spores. Confirmation is by identification of Paracoccidioides brasiliensis in a blood or sputum sample. |
MONDO:0005894 |
| MONDO:0971719 |
gauchers splenomegaly |
icd11.foundation:1221134908 |
MONDO:equivalentTo |
Gauchers splenomegaly |
|
MONDO:0018150 |
| MONDO:0971720 |
hypophysis cyst |
icd11.foundation:1221143982 |
MONDO:equivalentTo |
Hypophysis cyst |
|
MONDO:0015127 |
| MONDO:0971721 |
cree leukoencephalopathy |
icd11.foundation:1221321625 |
MONDO:equivalentTo |
Cree leukoencephalopathy |
|
MONDO:0015519 |
| MONDO:0971722 |
farber disease |
icd11.foundation:122136943 |
MONDO:equivalentTo |
Farber disease |
Farber disease is one of the rarest forms of lysosomal disease with high clinical variability. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly. |
MONDO:0019255 |
| MONDO:0971723 |
postinfective hydrocephalus |
icd11.foundation:1221858018 |
MONDO:equivalentTo |
Postinfective hydrocephalus |
A condition which refers to accumulation of CSF within the cranial cavity secondary to an infectious process. Fibrous adhesions can develop in the ventricles and arachnoid villi, as well as in the basal cysterns. |
MONDO:0002045 |
| MONDO:0971724 |
other specified neuroendocrine neoplasms of anus or anal canal |
icd11.foundation:1221965225 |
MONDO:equivalentTo |
Other specified neuroendocrine neoplasms of anus or anal canal |
|
MONDO:0015069 |
| MONDO:0971725 |
crohn disease of small intestine |
icd11.foundation:1221996518 |
MONDO:equivalentTo |
Crohn disease of small intestine |
Crohn disease, which is characterised by chronic and relapsing transmural inflammation, may affect any part of the digestive tract. This refers to Crohn disease involving the small intestine. |
MONDO:0005011 |
| MONDO:0971726 |
desbuquois syndrome |
icd11.foundation:1222715099 |
MONDO:equivalentTo |
Desbuquois syndrome |
Desbuquois syndrome is a rare osteochondrodysplasia which manifestations include short stature of prenatal onset with rhizomelic and mesomelic shortness, marked joint laxity, kyphoscoliosis and characteristic facial dysmorphism. The disease is clinically heterogeneous with variable severity. |
MONDO:0800086 |
| MONDO:0971727 |
sleep bruxism |
icd11.foundation:1223469357 |
MONDO:equivalentTo |
Sleep bruxism |
|
MONDO:0002443 |
| MONDO:0971728 |
infection by dipetalonema |
icd11.foundation:1223480363 |
MONDO:equivalentTo |
Infection by Dipetalonema |
|
MONDO:0005838 |
| MONDO:0971729 |
b1 variant of hexosaminidase a deficiency |
icd11.foundation:1223524026 |
MONDO:equivalentTo |
B1 variant of hexosaminidase A deficiency |
|
MONDO:0010100 |
| MONDO:0971730 |
proximal symphalangism, bilateral |
icd11.foundation:1223654846 |
MONDO:equivalentTo |
Proximal symphalangism, bilateral |
|
MONDO:0008511 |
| MONDO:0971731 |
distal duplications of the short arm of chromosome 9 |
icd11.foundation:1223826128 |
MONDO:equivalentTo |
Distal duplications of the short arm of chromosome 9 |
|
MONDO:0016526 |
| MONDO:0971732 |
osteoporosis, ankle or foot |
icd11.foundation:1223866821 |
MONDO:equivalentTo |
Osteoporosis, ankle or foot |
|
MONDO:0005298 |
| MONDO:0971733 |
scapuloperoneal muscular dystrophy |
icd11.foundation:1224331149 |
MONDO:equivalentTo |
Scapuloperoneal muscular dystrophy |
Scapuloperoneal muscular dystrophies are a group of genetically heterogeneous myopathies characterised by progressive weakness and wasting of scapular and anterior leg muscles. Emery-Dreifuss muscular dystrophy is a classic scapuloperoneal muscular dystrophy associated with early contractures and cardiac arrhythmia, but other muscle disorders can also present with a scapuloperoneal phenotype. |
MONDO:0020121 |
| MONDO:0971734 |
sequelae of frostbite of head or neck |
icd11.foundation:1225201579 |
MONDO:equivalentTo |
Sequelae of frostbite of head or neck |
|
MONDO:0800177 |
| MONDO:0971735 |
optic neuritis in other primary demyelinating diseases |
icd11.foundation:122569510 |
MONDO:equivalentTo |
Optic neuritis in other primary demyelinating diseases |
|
MONDO:0005885 |
| MONDO:0971736 |
testicular adenoma, unspecified site, male |
icd11.foundation:1225768907 |
MONDO:equivalentTo |
Testicular adenoma, unspecified site, male |
|
MONDO:0021447 |
| MONDO:0971737 |
gonococcal bursitis, head |
icd11.foundation:1226209074 |
MONDO:equivalentTo |
Gonococcal bursitis, head |
|
MONDO:0001719 |
| MONDO:0971738 |
acute haemorrhagic leukoencephalitis |
icd11.foundation:1226230164 |
MONDO:equivalentTo |
Acute haemorrhagic leukoencephalitis |
Rare, severe, rapidly progressive inflammatory and haemorrhagic demyelinating disorder of the central nervous system, considered a variant of ADEM. |
MONDO:0019383 |
| MONDO:0971739 |
eczematous dermatitis of eyelids |
icd11.foundation:1226494097 |
MONDO:equivalentTo |
Eczematous dermatitis of eyelids |
Any eczematous condition of the eyelids which cannot be more precisely attributed to atopic eczema, seborrhoeic dermatitis or contact with irritants or allergens. |
MONDO:0002137 |
| MONDO:0971740 |
atrophic late-stage age-related macular degeneration |
icd11.foundation:1226574342 |
MONDO:equivalentTo |
Atrophic late-stage age-related macular degeneration |
|
MONDO:0005150 |
| MONDO:0971741 |
adenosclerosis |
icd11.foundation:1226717445 |
MONDO:equivalentTo |
Adenosclerosis |
|
MONDO:0002052 |
| MONDO:0971742 |
ectodermal dysplasia - syndactyly syndrome |
icd11.foundation:1226949727 |
MONDO:equivalentTo |
Ectodermal dysplasia - syndactyly syndrome |
|
MONDO:0019287 |
| MONDO:0971743 |
compound hbe or other hb mutant heterozygotes |
icd11.foundation:1227311823 |
MONDO:equivalentTo |
Compound HbE or other Hb mutant heterozygotes |
|
MONDO:0016243 |
| MONDO:0971744 |
squamous cell carcinomas of overlapping lesion of oesophagus |
icd11.foundation:1229293218 |
MONDO:equivalentTo |
Squamous cell carcinomas of overlapping lesion of oesophagus |
|
MONDO:0005580 |
| MONDO:0971745 |
adenoma of gallbladder |
icd11.foundation:1229475359 |
MONDO:equivalentTo |
Adenoma of gallbladder |
benign tumour originated from the epithelial cells of the gallbladder |
MONDO:0021503 |
| MONDO:0971746 |
post vaccinal encephalomyelitis |
icd11.foundation:1229845027 |
MONDO:equivalentTo |
Post vaccinal encephalomyelitis |
A rare disorder, with onset of neurological dysfunction within 21 days after vaccination. The clinical illness starts with a vaccinal skin reaction and systemic symptoms which merge with the neurological manifestations, typically affecting the cerebrum, but sometimes presenting as a myelitic disorder. |
MONDO:0019383 |
| MONDO:0971747 |
cervical eversion with cervicitis |
icd11.foundation:1229857315 |
MONDO:equivalentTo |
Cervical eversion with cervicitis |
|
MONDO:0002345 |
| MONDO:0971748 |
primary ocular diphtheria |
icd11.foundation:1230118105 |
MONDO:equivalentTo |
Primary ocular diphtheria |
|
MONDO:0006668 |
| MONDO:0971749 |
cyst of sublingual gland |
icd11.foundation:1230193401 |
MONDO:equivalentTo |
Cyst of sublingual gland |
|
MONDO:0001600 |
| MONDO:0971750 |
lrba deficiency |
icd11.foundation:1230532702 |
MONDO:equivalentTo |
LRBA deficiency |
LRBA deficiency is an autosomal recessive disease characterised by a CVID phenotype and severe autoimmunity with inflammatory bowel disease. Onset of symptoms varies from infancy to adulthood. |
MONDO:0015709 |
| MONDO:0971751 |
drug-induced cushing syndrome |
icd11.foundation:123068585 |
MONDO:equivalentTo |
Drug-induced Cushing syndrome |
|
MONDO:0020529 |
| MONDO:0971752 |
hereditary angioneurotic oedema urticaria |
icd11.foundation:1231144994 |
MONDO:equivalentTo |
Hereditary angioneurotic oedema urticaria |
|
MONDO:0019623 |
| MONDO:0971753 |
palindromic rheumatism, shoulder region |
icd11.foundation:1231263735 |
MONDO:equivalentTo |
Palindromic rheumatism, shoulder region |
|
MONDO:0001332 |
| MONDO:0971754 |
scleritis with corneal involvement |
icd11.foundation:1231282436 |
MONDO:equivalentTo |
Scleritis with corneal involvement |
Scleritis is a serious inflammatory disease that affects the white outer coating of the eye, known as the sclera. The disease is often contracted through association with other diseases of the body, such as Wegener's granulomatosis or rheumatoid arthritis; it can also be attained through disorders of menstruation. This diagnosis is with corneal involvement. |
MONDO:0001718 |
| MONDO:0971755 |
benign infantile focal epilepsy with midline spikes and waves during sleep |
icd11.foundation:1231731968 |
MONDO:equivalentTo |
Benign infantile focal epilepsy with midline spikes and waves during sleep |
|
MONDO:0017615 |
| MONDO:0971756 |
congenital myasthenia with presynaptic defect |
icd11.foundation:1231819833 |
MONDO:equivalentTo |
Congenital myasthenia with presynaptic defect |
The purely presynaptic CMS are least frequent, accounting for only 6% of all cases, include defects in evoked release of acetylcholine (ACh) quanta or ACh resynthesis due to choline acetyltransferase, paucity of synaptic vesicles and Lambert-Eaton-like CMS. |
MONDO:0018940 |
| MONDO:0971757 |
acute epiglottitis and supraglottitis |
icd11.foundation:1231996678 |
MONDO:equivalentTo |
Acute epiglottitis and supraglottitis |
|
MONDO:0041366 |
| MONDO:0971758 |
hamartoma of mature cardiac myocytes |
icd11.foundation:1232476849 |
MONDO:equivalentTo |
Hamartoma of mature cardiac myocytes |
|
MONDO:0021450 |
| MONDO:0971759 |
ectodermal dysplasia - absent dermatoglyphs |
icd11.foundation:1234049449 |
MONDO:equivalentTo |
Ectodermal dysplasia - absent dermatoglyphs |
Ectodermal dysplasia - absent dermatoglyphs syndrome is characterised by ectodermal dysplasia (including nail and skin anomalies), absence of dermatoglyphs and furrows on the fingers. |
MONDO:0019287 |
| MONDO:0971760 |
chronic periodontitis complex |
icd11.foundation:1234079475 |
MONDO:equivalentTo |
Chronic periodontitis complex |
|
MONDO:0005593 |
| MONDO:0971761 |
congenital pigmentation of retina |
icd11.foundation:1234099564 |
MONDO:equivalentTo |
Congenital pigmentation of retina |
|
MONDO:0020247 |
| MONDO:0971762 |
male sexual precocity with adrenal hyperplasia |
icd11.foundation:1234504509 |
MONDO:equivalentTo |
Male sexual precocity with adrenal hyperplasia |
|
MONDO:0015898 |
| MONDO:0971763 |
kashin-beck disease, vertebral column |
icd11.foundation:1234596467 |
MONDO:equivalentTo |
Kashin-Beck disease, vertebral column |
|
MONDO:0005610 |
| MONDO:0971764 |
left isomerism |
icd11.foundation:1234712569 |
MONDO:equivalentTo |
Left isomerism |
A congenital cardiovascular malformation that is a variant of an heterotaxy syndrome in which some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. |
MONDO:0018677 |
| MONDO:0971765 |
autoinflammatory syndromes with immunodeficiency |
icd11.foundation:1234760801 |
MONDO:equivalentTo |
Autoinflammatory syndromes with immunodeficiency |
|
MONDO:0015135 |
| MONDO:0971766 |
intermediate maple-syrup-urine disease |
icd11.foundation:1234820241 |
MONDO:equivalentTo |
Intermediate maple-syrup-urine disease |
This is an intermediate autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. |
MONDO:0009563 |
| MONDO:0971767 |
combined oxidative phosphorylation deficiency type 3 |
icd11.foundation:1235199648 |
MONDO:equivalentTo |
Combined oxidative phosphorylation deficiency type 3 |
This is the combined oxiedative deficiency addition of a phosphate (PO43-) group to a protein or other organic molecule. This diagnosis is type 3. |
MONDO:0000732 |
| MONDO:0971768 |
influenza, virus not identified |
icd11.foundation:1235618695 |
MONDO:equivalentTo |
Influenza, virus not identified |
Any disease of the respiratory system, caused by an unidentified strain of influenza virus. These diseases are characterised by fever, cough, headache, myalgia, arthralgia, or malaise. Transmission is by inhalation of infected respiratory secretions. |
MONDO:0005812 |
| MONDO:0971769 |
brown oculocutaneous albinism |
icd11.foundation:1235873397 |
MONDO:equivalentTo |
Brown oculocutaneous albinism |
Individuals with Brown-OCA2 may present with the classic OCA2 phenotype (yellow/blond hair and blue/hazel irides) except for more evident skin pigmentation. It is caused by mutations in the OCA2 (P) gene and occurs principally in Sub-Saharan Africa. |
MONDO:0008746 |
| MONDO:0971770 |
venous thromboembolism originating from upper limb |
icd11.foundation:1237857463 |
MONDO:equivalentTo |
Venous thromboembolism originating from upper limb |
Embolism from thrombus originating in the veins of the upper limb |
MONDO:0005399 |
| MONDO:0971771 |
benign dystrophin-deficient becker muscular dystrophy |
icd11.foundation:1237861765 |
MONDO:equivalentTo |
Benign dystrophin-deficient Becker muscular dystrophy |
Becker muscular dystrophy (BMD) is a neuromuscular disease characterised by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. BMD primarily affects males but a small percentage of female carriers manifest milder forms of the disease. |
MONDO:0010311 |
| MONDO:0971772 |
charcot-marie-tooth disease 2 autosomal dominant |
icd11.foundation:123856996 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease 2 autosomal dominant |
|
MONDO:0018993 |
| MONDO:0971773 |
thoracic aortic aneurysm with rupture |
icd11.foundation:1238851281 |
MONDO:equivalentTo |
Thoracic aortic aneurysm with rupture |
|
MONDO:0005396 |
| MONDO:0971774 |
double inlet to solitary ventricle of indeterminate morphology |
icd11.foundation:1239626873 |
MONDO:equivalentTo |
Double inlet to solitary ventricle of indeterminate morphology |
A congenital cardiovascular malformation with a univentricular atrioventricular connection wherein both atria connect to a solitary and morphologically indeterminate ventricle either via two separate atrioventricular valves or a common atrioventricular valve. |
MONDO:0015451 |
| MONDO:0971775 |
fetal hypophosphatasia |
icd11.foundation:1239713511 |
MONDO:equivalentTo |
Fetal hypophosphatasia |
|
MONDO:0018570 |
| MONDO:0971776 |
pneumococcal appendicitis |
icd11.foundation:124034626 |
MONDO:equivalentTo |
Pneumococcal appendicitis |
|
MONDO:0005649 |
| MONDO:0971777 |
digestive manifestations of unspecified cystic fibrosis |
icd11.foundation:1240402559 |
MONDO:equivalentTo |
Digestive manifestations of unspecified cystic fibrosis |
|
MONDO:0009061 |
| MONDO:0971778 |
other chronic thyroiditis |
icd11.foundation:1240489440 |
MONDO:equivalentTo |
Other chronic thyroiditis |
|
MONDO:0004126 |
| MONDO:0971779 |
16p11.2p12.2 deletion |
icd11.foundation:1240878437 |
MONDO:equivalentTo |
16p11.2p12.2 deletion |
16p11.2-p12.2 microdeletion syndrome is a chromosomal anomaly characterised by developmental delay and facial dysmorphism (flat facies, downslanting palpebral fissures, low-set and malformed ears). |
MONDO:0016894 |
| MONDO:0971780 |
solitary bone cyst, shoulder region |
icd11.foundation:1241129752 |
MONDO:equivalentTo |
Solitary bone cyst, shoulder region |
|
MONDO:0019372 |
| MONDO:0971781 |
chronic membranous rhinitis |
icd11.foundation:1243496302 |
MONDO:equivalentTo |
Chronic membranous rhinitis |
|
MONDO:0004514 |
| MONDO:0971782 |
hereditary sensory and autonomic neuropathy type ib |
icd11.foundation:1243509417 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy Type IB |
Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). |
MONDO:0018213 |
| MONDO:0971783 |
simple primary lymphoedema |
icd11.foundation:1244068487 |
MONDO:equivalentTo |
Simple primary lymphoedema |
Primary lymphoedema is the only manifestation |
MONDO:0019175 |
| MONDO:0971784 |
nodular acne |
icd11.foundation:1244484505 |
MONDO:equivalentTo |
Nodular acne |
Acne in which large inflammatory nodules and fluid-filled cystic swellings as well as more superficial lesions are present. Systemic therapy with antibiotics or retinoids is usually required. |
MONDO:0011438 |
| MONDO:0971785 |
duplication of oesophagus |
icd11.foundation:1244532909 |
MONDO:equivalentTo |
Duplication of oesophagus |
This is an embryologic duplication of a portion of oesophagus and most are diagnosed in childhood. This may be simple epithelial cysts close to the functioning oesophagus (Duplication cyst) or duplications (tubular) that contain muscle and submucosa but not epithelium and communicate with the effective oesophagus. Most (60%) occur in lower 1/3 of oesophagus and most commonly associated with difficulty swallowing. |
MONDO:0019513 |
| MONDO:0971786 |
necrotic myopathy |
icd11.foundation:124501922 |
MONDO:equivalentTo |
Necrotic myopathy |
Group of myopathic disorders characterized by the predominant pathological feature of necrosis of muscle fibers in the absence of substantial lymphocytic inflammatory infiltrates. Most commonly divided into immune-mediated (IMNM) and non-immune mediated (NIMNM). Both IMNM and NIMNM are typically characterized by proximal weakness, although the severity can vary. |
MONDO:0005336 |
| MONDO:0971787 |
pneumonia in spirochaetal, not elsewhere classified |
icd11.foundation:1245083795 |
MONDO:equivalentTo |
Pneumonia in spirochaetal, not elsewhere classified |
|
MONDO:0004652 |
| MONDO:0971788 |
amnestic disorder due to psychoactive substances including medications |
icd11.foundation:1246085612 |
MONDO:equivalentTo |
Amnestic disorder due to psychoactive substances including medications |
All definitional requirements for amnestic disorder are met. The memory symptoms are judged to be the direct consequence of psychoactive substance use. The intensity and duration of substance use must be known to be capable of producing memory impairment. The memory impairment may develop during or soon after substance intoxication or withdrawal, but its intensity and duration are substantially in excess of those normally associated with these conditions. The symptoms are not better accounted for by another disorder or medical condition, as might be the case if the amnestic symptoms preceded the onset of substance use. |
MONDO:0001152 |
| MONDO:0971789 |
medial deletions of the long arm of chromosome 5 |
icd11.foundation:1246153697 |
MONDO:equivalentTo |
Medial deletions of the long arm of chromosome 5 |
|
MONDO:0016904 |
| MONDO:0971790 |
myopathy associated with other paraneoplastic conditions |
icd11.foundation:1246434721 |
MONDO:equivalentTo |
Myopathy associated with other paraneoplastic conditions |
Disorder of the skeletal muscle in the setting of a paraneoplastic process, rather than direct infiltration by a tumor. |
MONDO:0005336 |
| MONDO:0971791 |
homocystinaemia |
icd11.foundation:124904722 |
MONDO:equivalentTo |
Homocystinaemia |
|
MONDO:0019222 |
| MONDO:0971792 |
herpesvirus related panuveitis |
icd11.foundation:1250436903 |
MONDO:equivalentTo |
Herpesvirus related panuveitis |
|
MONDO:0017211 |
| MONDO:0971793 |
adrenal gland infarction |
icd11.foundation:1250456089 |
MONDO:equivalentTo |
Adrenal gland infarction |
|
MONDO:0019801 |
| MONDO:0971794 |
other neuroendocrine tumour of pancreas |
icd11.foundation:1250576948 |
MONDO:equivalentTo |
Other neuroendocrine tumour of pancreas |
|
MONDO:0005815 |
| MONDO:0971795 |
phosphoribosyl pyrophosphate synthase 1 defects |
icd11.foundation:1251295706 |
MONDO:equivalentTo |
Phosphoribosyl pyrophosphate synthase 1 defects |
This refers to defects in a pentosephosphate, formed from ribose 5-phosphate by the enzyme ribose-phosphate diphosphokinase. |
MONDO:0019236 |
| MONDO:0971796 |
chronic empyema of ethmoid sinus |
icd11.foundation:125132474 |
MONDO:equivalentTo |
Chronic empyema of ethmoid sinus |
|
MONDO:0004757 |
| MONDO:0971797 |
sporadic lymphangioleiomyomatosis |
icd11.foundation:1251780231 |
MONDO:equivalentTo |
Sporadic lymphangioleiomyomatosis |
This is a rare lung disease that results in a proliferation of disorderly smooth muscle growth (leiomyoma) throughout the lungs, in the bronchioles, alveolar septa, perivascular spaces, and lymphatics, resulting in the obstruction of small airways (leading to pulmonary cyst formation and pneumothorax) and lymphatics (leading to chylous pleural effusion). LAM occurs in a sporadic form, which affects only females, usually of childbearing age; LAM also occurs in patients who have tuberous sclerosis. |
MONDO:0011705 |
| MONDO:0971798 |
squamous cell carcinoma of branchial cleft |
icd11.foundation:1252300552 |
MONDO:equivalentTo |
Squamous cell carcinoma of branchial cleft |
|
MONDO:0044704 |
| MONDO:0971799 |
vitamin a deficiency with xerophthalmic scars of cornea or blindness |
icd11.foundation:1252924203 |
MONDO:equivalentTo |
Vitamin A deficiency with xerophthalmic scars of cornea or blindness |
Xerophthalmia or "dry eye" remains the most important cause of childhood blindness in many developing countries. Healed sequelae of prior corneal disease related to vitamin A deficiency include opacities or scars of varying density (nebula, macula, leukoma), weakening and outpouching of the remaining corneal layers (staphyloma and descemetocele) and, where loss of intraocular contents has occurred, phthisis bulbi, a scarred shrunken globe. Such end-stage lesions are not specific for xerophthalmia and may arise from numerous other conditions, notably trauma and infection. |
MONDO:0001250 |
| MONDO:0971800 |
trichodermodysplasia - dental alterations |
icd11.foundation:1253116704 |
MONDO:equivalentTo |
Trichodermodysplasia - dental alterations |
|
MONDO:0019287 |
| MONDO:0971801 |
pyruvate dehydrogenase complex e1-alpha subunit deficiency |
icd11.foundation:1253259207 |
MONDO:equivalentTo |
Pyruvate dehydrogenase complex E1-alpha subunit deficiency |
Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction. |
MONDO:0019169 |
| MONDO:0971802 |
acquired hypofibrinogenaemia |
icd11.foundation:1253372661 |
MONDO:equivalentTo |
Acquired hypofibrinogenaemia |
|
MONDO:0001243 |
| MONDO:0971803 |
congenital lamellar ichthyosis |
icd11.foundation:1253608930 |
MONDO:equivalentTo |
Congenital lamellar ichthyosis |
|
MONDO:0017778 |
| MONDO:0971804 |
chronic tracheopharyngitis |
icd11.foundation:1253854457 |
MONDO:equivalentTo |
Chronic tracheopharyngitis |
|
MONDO:0005607 |
| MONDO:0971805 |
insulin resistant diabetes mellitus |
icd11.foundation:1255683285 |
MONDO:equivalentTo |
Insulin resistant diabetes mellitus |
|
MONDO:0005148 |
| MONDO:0971806 |
acute peptic curlings ulcer |
icd11.foundation:1256711597 |
MONDO:equivalentTo |
Acute peptic curlings ulcer |
|
MONDO:0001126 |
| MONDO:0971807 |
congenital displacement of oesophagus |
icd11.foundation:125775701 |
MONDO:equivalentTo |
Congenital displacement of oesophagus |
Dislocation of oesophagus due to a developmental defect of the primitive foregut. |
MONDO:0019513 |
| MONDO:0971808 |
congenital bifid epiglottis |
icd11.foundation:1258096940 |
MONDO:equivalentTo |
Congenital bifid epiglottis |
|
MONDO:0015504 |
| MONDO:0971809 |
anterior polar cataract |
icd11.foundation:1258137397 |
MONDO:equivalentTo |
Anterior polar cataract |
|
MONDO:0011060 |
| MONDO:0971810 |
paratyphoid fever b |
icd11.foundation:1258234397 |
MONDO:equivalentTo |
Paratyphoid fever B |
Paratyphoid fever B is caused by Salmonella enterica serotype paratyphi B (Salmonella paratyphi B). A tartrate fermenting variant, referred to as serovar Paratyphi B var L(+) tartrate +, or variant Java, is associated with routine gastrointestinal disease. |
MONDO:0018626 |
| MONDO:0971811 |
19p13.12 deletion |
icd11.foundation:1258292853 |
MONDO:equivalentTo |
19p13.12 deletion |
19p13.12 microdeletion syndrome is a chromosomal anomaly associated with moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. |
MONDO:0016897 |
| MONDO:0971812 |
onchocerciasis of the eye |
icd11.foundation:125842620 |
MONDO:equivalentTo |
Onchocerciasis of the eye |
A disease of the eye, caused by an infection with the parasitic worm Onchocerca volvulus. This disease is characterised by transient punctate keratitis, or potentially blinding conditions (such as sclerosing keratitis, iridocyclitis, or optic atrophy). Transmission is through the bite of an infected Simulium fly. Confirmation is by identification of Onchocerca volvulus from the anterior chamber of the eye. |
MONDO:0017137 |
| MONDO:0971813 |
isochromosome yp |
icd11.foundation:1259204624 |
MONDO:equivalentTo |
Isochromosome Yp |
|
MONDO:0019935 |
| MONDO:0971814 |
other parasitologically confirmed malaria |
icd11.foundation:1260563068 |
MONDO:equivalentTo |
Other parasitologically confirmed malaria |
|
MONDO:0005136 |
| MONDO:0971815 |
chronic infection of nasal sinus |
icd11.foundation:126061580 |
MONDO:equivalentTo |
Chronic infection of nasal sinus |
|
MONDO:0006031 |
| MONDO:0971816 |
indeterminate neuritic leprosy |
icd11.foundation:1260648884 |
MONDO:equivalentTo |
Indeterminate neuritic leprosy |
|
MONDO:0001391 |
| MONDO:0971817 |
chondrocalcinosis, hand |
icd11.foundation:1261474711 |
MONDO:equivalentTo |
Chondrocalcinosis, hand |
|
MONDO:0001314 |
| MONDO:0971818 |
monostotic fibrous dysplasia, trunk |
icd11.foundation:1261930884 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, trunk |
|
MONDO:0019665 |
| MONDO:0971819 |
emotionally unstable personality disorder |
icd11.foundation:1262035991 |
MONDO:equivalentTo |
Emotionally unstable personality disorder |
|
MONDO:0002028 |
| MONDO:0971820 |
deletions of chromosome 10 |
icd11.foundation:1263655938 |
MONDO:equivalentTo |
Deletions of chromosome 10 |
|
MONDO:0020054 |
| MONDO:0971821 |
basaloid squamous cell carcinoma of oropharynx |
icd11.foundation:1264510418 |
MONDO:equivalentTo |
Basaloid squamous cell carcinoma of oropharynx |
|
MONDO:0044704 |
| MONDO:0971822 |
generalised vitiligo |
icd11.foundation:1264842676 |
MONDO:equivalentTo |
Generalised vitiligo |
Vitiligo affecting more than one body site, commonly the face and extremities (acrofacial vitiligo), the axillae, groins and genitalia. |
MONDO:0008661 |
| MONDO:0971823 |
infection due to sparganum mansoni |
icd11.foundation:1264944128 |
MONDO:equivalentTo |
Infection due to Sparganum mansoni |
|
MONDO:0005963 |
| MONDO:0971824 |
radiation thyroiditis after 131 i treatment |
icd11.foundation:126495936 |
MONDO:equivalentTo |
Radiation thyroiditis after 131 I treatment |
This is a form of painful, acute thyroiditis resulting from radioactive therapy to treat hyperthyroidism or from radiation to treat head and neck cancer or lymphoma, after 131 I treatment. |
MONDO:0004126 |
| MONDO:0971825 |
rare forms of invasive aspergillosis |
icd11.foundation:1265783454 |
MONDO:equivalentTo |
Rare forms of invasive aspergillosis |
|
MONDO:0000240 |
| MONDO:0971826 |
benign neoplasm of vallecula |
icd11.foundation:1265831589 |
MONDO:equivalentTo |
Benign neoplasm of vallecula |
|
MONDO:0021479 |
| MONDO:0971827 |
ocular cryptococcosis |
icd11.foundation:1265954206 |
MONDO:equivalentTo |
Ocular cryptococcosis |
Eye involvement manifests as visual loss or ocular palsies caused by optic neuritis or as a complication of raised intracranial pressure in cryptococcal meningoencephalitis. Rapid diagnosis and treatment are essential to preserve vision. Although usually asymptomatic, prostatic foci of infection can act as a reservoir for relapse of systemic infection. |
MONDO:0005724 |
| MONDO:0971828 |
anomalous origin of left coronary artery from pulmonary artery |
icd11.foundation:12665074 |
MONDO:equivalentTo |
Anomalous origin of left coronary artery from pulmonary artery |
A congenital cardiovascular malformation in which the left coronary artery originates from the pulmonary trunk or one of its branches. |
MONDO:0035252 |
| MONDO:0971829 |
basement membrane corneal dystrophy |
icd11.foundation:1267955753 |
MONDO:equivalentTo |
Basement membrane corneal dystrophy |
|
MONDO:0018102 |
| MONDO:0971830 |
chronic bacterial myocarditis |
icd11.foundation:1268381891 |
MONDO:equivalentTo |
Chronic bacterial myocarditis |
|
MONDO:0001114 |
| MONDO:0971831 |
leucinosis |
icd11.foundation:1268433739 |
MONDO:equivalentTo |
Leucinosis |
|
MONDO:0019242 |
| MONDO:0971832 |
malignant brenner tumour of ovary |
icd11.foundation:1268695399 |
MONDO:equivalentTo |
Malignant Brenner tumour of ovary |
|
MONDO:0008170 |
| MONDO:0971833 |
juvenile psoriatic arthritis, neck |
icd11.foundation:1268805311 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, neck |
|
MONDO:0019436 |
| MONDO:0971834 |
chronic lymphangitis |
icd11.foundation:1268872075 |
MONDO:equivalentTo |
Chronic lymphangitis |
|
MONDO:0005832 |
| MONDO:0971835 |
long qt syndrome type 1 |
icd11.foundation:1269266075 |
MONDO:equivalentTo |
Long QT syndrome type 1 |
LQT1 is the most common type of long QT syndrome, making up about 30 to 35 percent of all cases. The LQT1 gene is KCNQ1, which has been isolated to chromosome 11p15.5. KCNQ1 codes for the voltage-gated potassium channel KvLQT1 that is highly expressed in the heart. It is believed that the product of the KCNQ1 gene produces an alpha subunit that interacts with other proteins (in particular, the minK beta subunit) to create the IKs ion channel, which is responsible for the delayed potassium rectifier current of the cardiac action potential. |
MONDO:0019171 |
| MONDO:0971836 |
chondrodysplasia punctata, sheffield type |
icd11.foundation:1270996170 |
MONDO:equivalentTo |
Chondrodysplasia punctata, Sheffield type |
|
MONDO:0019701 |
| MONDO:0971837 |
septal panniculitis |
icd11.foundation:1271186791 |
MONDO:equivalentTo |
Septal panniculitis |
|
MONDO:0006591 |
| MONDO:0971838 |
undescended testicle, unspecified laterality, inguinal |
icd11.foundation:1271304155 |
MONDO:equivalentTo |
Undescended testicle, unspecified laterality, inguinal |
|
MONDO:0009047 |
| MONDO:0971839 |
pseudohypoparathyroidism with albright hereditary osteodystrophy |
icd11.foundation:1271422188 |
MONDO:equivalentTo |
Pseudohypoparathyroidism with Albright hereditary osteodystrophy |
Albright hereditary osteodystrophy (AHO) is a syndrome with a wide range of manifestations including short stature, obesity, rounded face, subcutaneous ossifications and characteristic shortening and widening of long bones in the hands and feet (brachydactyly mostly affecting the 4th and 5th rays). These somatic features are associated with pseudohypoparathyroidism type 1a or 1c and to pseudopseudohypoparathyroidism. |
MONDO:0019992 |
| MONDO:0971840 |
pontine central pontine myelinolysis |
icd11.foundation:1271534526 |
MONDO:equivalentTo |
Pontine central pontine myelinolysis |
Pontine central pontine myelinolysis is characterised by noninflammatory demyelinating lesions present within the central basis pontis. Pontine central pontine myelinolsis presents as spastic tetraparesis, quadriparesis, pseudobulbar paralysis, coma, seizures and the locked-in-syndrome. |
MONDO:0006692 |
| MONDO:0971841 |
syndromic permanent neonatal diabetes mellitus |
icd11.foundation:1271599739 |
MONDO:equivalentTo |
Syndromic permanent neonatal diabetes mellitus |
This is a form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell KATP channel. This disease is considered to be a type of maturity onset diabetes of the young (MODY). |
MONDO:0016391 |
| MONDO:0971842 |
congenital retinoschisis |
icd11.foundation:1271692385 |
MONDO:equivalentTo |
Congenital retinoschisis |
|
MONDO:0020247 |
| MONDO:0971843 |
secondary disorders of folate transport or metabolism |
icd11.foundation:1271908667 |
MONDO:equivalentTo |
Secondary disorders of folate transport or metabolism |
|
MONDO:0017313 |
| MONDO:0971844 |
neuroendocrine tumour of appendix |
icd11.foundation:1272601015 |
MONDO:equivalentTo |
Neuroendocrine tumour of appendix |
Neoplasms that arise from the cells of neuroendocrine system lining the appendix including well-differentiated (low- to intermediated grade) neuroendocrine tumours. |
MONDO:0015066 |
| MONDO:0971845 |
lethal congenital contracture syndrome type 3 |
icd11.foundation:1272735380 |
MONDO:equivalentTo |
Lethal congenital contracture syndrome type 3 |
|
MONDO:0017436 |
| MONDO:0971846 |
paediatric castleman disease |
icd11.foundation:1272754868 |
MONDO:equivalentTo |
Paediatric Castleman disease |
Paediatric Castleman disease is a form of Castleman disease with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anaemia, fatigue and failure to thrive) or compressive symptoms. |
MONDO:0015564 |
| MONDO:0971847 |
renal tubular acidosis - deafness |
icd11.foundation:127398748 |
MONDO:equivalentTo |
Renal tubular acidosis - deafness |
Autosomal recessive distal renal tubular acidosis type 1b is an inherited form of distal renal tubular acidosis characterised by hypokalaemic hyperchloremic metabolic acidosis and progressive deafness. |
MONDO:0019589 |
| MONDO:0971848 |
xeroderma pigmentosum f |
icd11.foundation:1274179464 |
MONDO:equivalentTo |
Xeroderma pigmentosum F |
Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers. Most patients demonstrate very mild skin symptoms and no ocular or neurological disease. |
MONDO:0019600 |
| MONDO:0971849 |
endometriosis of the reproductive system |
icd11.foundation:1275309968 |
MONDO:equivalentTo |
Endometriosis of the reproductive system |
|
MONDO:0005133 |
| MONDO:0971850 |
mild haemophilia a |
icd11.foundation:1275649978 |
MONDO:equivalentTo |
Mild haemophilia A |
Mild haemophilia A is a form of haemophilia A (see this term) characterised by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Mild haemophilia A accounts for around 40% of all cases of haemophilia A. The biological activity of factor VIII is between 5 and 40%. Spontaneous haemorrhages do not occur. Transmission is X-linked recessive and the disorder is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII. |
MONDO:0010602 |
| MONDO:0971851 |
blepharochalasis lower eyelid |
icd11.foundation:1275729820 |
MONDO:equivalentTo |
Blepharochalasis lower eyelid |
This is an inflammation of the eyelid that is characterised by exacerbations and remissions of eyelid oedema, which results in a stretching and subsequent atrophy of the eyelid tissue resulting in redundant folds over the lid margins. This diagnosis is of the lower eyelid. |
MONDO:0002660 |
| MONDO:0971852 |
chronic paroxysmal hemicrania |
icd11.foundation:127612471 |
MONDO:equivalentTo |
Chronic paroxysmal hemicrania |
Attacks of paroxysmal hemicrania occurring for more than one year without remission, or with remission periods lasting less than one month. |
MONDO:0015529 |
| MONDO:0971853 |
nabothian abscess |
icd11.foundation:1276385616 |
MONDO:equivalentTo |
Nabothian abscess |
|
MONDO:0002345 |
| MONDO:0971854 |
mitochondrial aspartate glutamate carrier 1 deficiency |
icd11.foundation:1277104703 |
MONDO:equivalentTo |
Mitochondrial aspartate glutamate carrier 1 deficiency |
This is a deficiency predominantly expressed in the plasma membrane, allowing it to remove glutamate from the extracellular space. It has also been localised in the inner mitochondrial membrane as part of the malate-aspartate shuttle. |
MONDO:0016801 |
| MONDO:0971855 |
myositis due to toxoplasmosis |
icd11.foundation:1277185107 |
MONDO:equivalentTo |
Myositis due to toxoplasmosis |
|
MONDO:0005989 |
| MONDO:0971856 |
iatrogenic adrenogenital disease or disorder |
icd11.foundation:1277247292 |
MONDO:equivalentTo |
Iatrogenic adrenogenital disease or disorder |
|
MONDO:0015898 |
| MONDO:0971857 |
cylindrical bronchiectasis |
icd11.foundation:1277293232 |
MONDO:equivalentTo |
Cylindrical bronchiectasis |
|
MONDO:0004822 |
| MONDO:0971858 |
dermatophytosis due to geophilic dermatophytes |
icd11.foundation:1277769390 |
MONDO:equivalentTo |
Dermatophytosis due to geophilic dermatophytes |
Infection by fungi which normally live in soil but which are capable of invading human skin. |
MONDO:0004678 |
| MONDO:0971859 |
optico-chiasmatic arachnoiditis |
icd11.foundation:1278032412 |
MONDO:equivalentTo |
Optico-chiasmatic arachnoiditis |
|
MONDO:0015304 |
| MONDO:0971860 |
postinfective gingival recession |
icd11.foundation:1278299408 |
MONDO:equivalentTo |
Postinfective gingival recession |
|
MONDO:0001268 |
| MONDO:0971861 |
beery-baby syndrome |
icd11.foundation:1278316055 |
MONDO:equivalentTo |
Beery-baby syndrome |
|
MONDO:0019222 |
| MONDO:0971862 |
benign neoplasm of undescended testis |
icd11.foundation:1278971957 |
MONDO:equivalentTo |
Benign neoplasm of undescended testis |
|
MONDO:0021447 |
| MONDO:0971863 |
distal deletions of the long arm of chromosome 17 |
icd11.foundation:1279709157 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 17 |
|
MONDO:0016915 |
| MONDO:0971864 |
antiphospholipid syndrome in pregnancy |
icd11.foundation:1280729393 |
MONDO:equivalentTo |
Antiphospholipid syndrome in pregnancy |
|
MONDO:8000010 |
| MONDO:0971865 |
congenital knee dislocation, bilateral |
icd11.foundation:1280744822 |
MONDO:equivalentTo |
Congenital knee dislocation, bilateral |
|
MONDO:0017470 |
| MONDO:0971866 |
carnitine palmitoyltransferase ii deficiency, neonatal form |
icd11.foundation:1280842213 |
MONDO:equivalentTo |
Carnitine palmitoyltransferase II deficiency, neonatal form |
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure. |
MONDO:0015515 |
| MONDO:0971867 |
certain specified congenital myopathy |
icd11.foundation:1280916662 |
MONDO:equivalentTo |
Certain specified congenital myopathy |
Specific muscle disorders present at birth. The defect primarily affects skeletal muscle fibres and causes neonatal muscular weakness and/or hypotonia. |
MONDO:0019952 |
| MONDO:0971868 |
senile osteoporosis |
icd11.foundation:1281427573 |
MONDO:equivalentTo |
Senile osteoporosis |
|
MONDO:0005298 |
| MONDO:0971869 |
other specified neuroendocrine neoplasms of appendix |
icd11.foundation:1282023557 |
MONDO:equivalentTo |
Other specified neuroendocrine neoplasms of appendix |
|
MONDO:0015066 |
| MONDO:0971870 |
chondrocalcinosis, multiple sites |
icd11.foundation:1282625790 |
MONDO:equivalentTo |
Chondrocalcinosis, multiple sites |
|
MONDO:0001314 |
| MONDO:0971871 |
pyoderma gangrenosum classified by clinical type |
icd11.foundation:1282977640 |
MONDO:equivalentTo |
Pyoderma gangrenosum classified by clinical type |
|
MONDO:0018824 |
| MONDO:0971872 |
autism spectrum disorder without disorder of intellectual development and with impaired functional language |
icd11.foundation:1283290231 |
MONDO:equivalentTo |
Autism spectrum disorder without disorder of intellectual development and with impaired functional language |
All definitional requirements for autism spectrum disorder are met, intellectual functioning and adaptive behaviour are found to be at least within the average range (approximately greater than the 2.3rd percentile), and there is marked impairment in functional language (spoken or signed) relative to the individuals age, with the individual not able to use more than single words or simple phrases for instrumental purposes, such as to express personal needs and desires. |
MONDO:0005258 |
| MONDO:0971873 |
leukemic meningitis |
icd11.foundation:1283692207 |
MONDO:equivalentTo |
Leukemic meningitis |
Inflammation of the meninges due to infiltration by leukaemic cells. The syndrome is clinically characterised by headache, neck stiffness, fever and photophobia with potential progression to stupor and coma. The presentation may be acute, subacute or chronic. Diagnosis may be aided by neuroimaging and spinal fluid analysis which may reveal a lymphocytic pleocytosis, raised protein and the presence of malignant cells on cytology. |
MONDO:0700219 |
| MONDO:0971874 |
papillary pseudomucinous cystadenocarcinoma of ovary |
icd11.foundation:128459925 |
MONDO:equivalentTo |
Papillary pseudomucinous cystadenocarcinoma of ovary |
|
MONDO:0008170 |
| MONDO:0971875 |
infantile or juvenile cataract |
icd11.foundation:1285565218 |
MONDO:equivalentTo |
Infantile or juvenile cataract |
A cataract is clouding of the lens of the eye, which impedes the passage of light. |
MONDO:0005129 |
| MONDO:0971876 |
irritable bowel syndrome, unsubtyped |
icd11.foundation:1286327510 |
MONDO:equivalentTo |
Irritable bowel syndrome, unsubtyped |
|
MONDO:0005052 |
| MONDO:0971877 |
non genetic cerebral folate deficiency due to autoantibodies |
icd11.foundation:1287486510 |
MONDO:equivalentTo |
Non genetic cerebral folate deficiency due to autoantibodies |
|
MONDO:0017313 |
| MONDO:0971878 |
z-band alternatively spliced pdz motif containing-protein myopathy |
icd11.foundation:1287541405 |
MONDO:equivalentTo |
Z-band alternatively spliced PDZ motif containing-protein myopathy |
Z-band alternatively spliced PDZ motif containing-protein (ZASP) myopathy is an autosomal dominant myofibrillar myopathy caused by mutations in ZASP. Clinical spectrum of zaspopathy includes cardiomyopathy, distal more than proximal weakness, and peripheral neuropathy. |
MONDO:0018943 |
| MONDO:0971879 |
skeletal fluorosis, hand |
icd11.foundation:128760869 |
MONDO:equivalentTo |
Skeletal fluorosis, hand |
|
MONDO:0400003 |
| MONDO:0971880 |
subacute or chronic melioidosis |
icd11.foundation:1288535424 |
MONDO:equivalentTo |
Subacute or chronic melioidosis |
Melioidosis lasting more than 2 months and presenting typically as chronic pneumonia or as skin and soft tissue abscesses. In males the infection may present as prostatic abscesses. |
MONDO:0017775 |
| MONDO:0971881 |
moderate prosopagnosia |
icd11.foundation:1289415973 |
MONDO:equivalentTo |
Moderate Prosopagnosia |
|
MONDO:0003227 |
| MONDO:0971882 |
structural developmental anomalies of the pupil |
icd11.foundation:1289620795 |
MONDO:equivalentTo |
Structural developmental anomalies of the pupil |
|
MONDO:0019503 |
| MONDO:0971883 |
perinatal-lethal gaucher disease |
icd11.foundation:1292099818 |
MONDO:equivalentTo |
Perinatal-lethal Gaucher disease |
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease. |
MONDO:0018150 |
| MONDO:0971884 |
adenosquamous carcinoma of hypopharynx |
icd11.foundation:129288147 |
MONDO:equivalentTo |
Adenosquamous carcinoma of hypopharynx |
|
MONDO:0044638 |
| MONDO:0971885 |
bartter syndrome type 1 |
icd11.foundation:1293185245 |
MONDO:equivalentTo |
Bartter syndrome type 1 |
|
MONDO:0015231 |
| MONDO:0971886 |
chemotherapy thrombocytopaenia |
icd11.foundation:129450472 |
MONDO:equivalentTo |
Chemotherapy thrombocytopaenia |
|
MONDO:0001198 |
| MONDO:0971887 |
anterior pyramidal cataract |
icd11.foundation:1294793885 |
MONDO:equivalentTo |
Anterior pyramidal cataract |
|
MONDO:0011060 |
| MONDO:0971888 |
leprosy reactions |
icd11.foundation:1295356165 |
MONDO:equivalentTo |
Leprosy reactions |
|
MONDO:0005124 |
| MONDO:0971889 |
spondylolisthesis, sacral or sacrococcygeal region |
icd11.foundation:1298295739 |
MONDO:equivalentTo |
Spondylolisthesis, sacral or sacrococcygeal region |
|
MONDO:0008475 |
| MONDO:0971890 |
spondylolysis without slippage |
icd11.foundation:1298374900 |
MONDO:equivalentTo |
Spondylolysis without slippage |
This is a condition characterised by degeneration of a portion of the vertebra, usually in the pars interarticularis (the bone bridge between the superior and inferior facet joints of the lumbar vertebra) without slippage of the vertebrae. |
MONDO:0005541 |
| MONDO:0971891 |
inv dup del y |
icd11.foundation:1298520662 |
MONDO:equivalentTo |
Inv dup del Y |
|
MONDO:0020061 |
| MONDO:0971892 |
benign neoplasm of inner aspect lip |
icd11.foundation:1298578421 |
MONDO:equivalentTo |
Benign neoplasm of inner aspect lip |
|
MONDO:0021496 |
| MONDO:0971893 |
terminal osseous dysplasia - pigmentary defects |
icd11.foundation:1298938435 |
MONDO:equivalentTo |
Terminal osseous dysplasia - pigmentary defects |
Terminal osseous dysplasia - pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis, which appear a few months after birth. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases. |
MONDO:0019695 |
| MONDO:0971894 |
autoimmune limbic encephalitis, neural autoantibody negative |
icd11.foundation:1299525829 |
MONDO:equivalentTo |
Autoimmune limbic encephalitis, Neural autoantibody negative |
|
MONDO:0850097 |
| MONDO:0971895 |
lumbar and other intervertebral disc disorders with radiculopathy |
icd11.foundation:1299613074 |
MONDO:equivalentTo |
Lumbar and other intervertebral disc disorders with radiculopathy |
A series of clinical syndromes which specifically affect the lumbar spine, lumbar discs, intervertebral foramina and/or spinal nerve roots, resulting in nerve root compromise, low back and/or leg pain, weakness and/or paraesthesias. |
MONDO:0002959 |
| MONDO:0971896 |
acute pulmonary histoplasmosis capsulati |
icd11.foundation:1299917897 |
MONDO:equivalentTo |
Acute pulmonary histoplasmosis capsulati |
Acute pulmonary histoplasmosis is due to primary infection with Histoplasma capsulatum. It is often asymptomatic but may present with a pneumonic illness. It may be accompanied by erythema multiforme or erythema nodosum. In a small proportion of cases infection may progress to a progressive chronic form. |
MONDO:0018312 |
| MONDO:0971897 |
primary lactase deficiency |
icd11.foundation:1300739653 |
MONDO:equivalentTo |
Primary lactase deficiency |
|
MONDO:0100345 |
| MONDO:0971898 |
primary peritonitis |
icd11.foundation:1300748171 |
MONDO:equivalentTo |
Primary peritonitis |
Peritonitis without surgical source nor the evident source of the infecting and other agent. |
MONDO:0004522 |
| MONDO:0971899 |
tachycardia induced dilated cardiomyopathy |
icd11.foundation:1302906319 |
MONDO:equivalentTo |
Tachycardia induced dilated cardiomyopathy |
Tachycardia induced dilated cardiomyopathy is ventricular dilation and dysfunction associated with chronic tachycardia in the absence of other causes of cardiomyopathy that responds to heart rate control. |
MONDO:0016338 |
| MONDO:0971900 |
benign neoplasm of lateral wall of oropharynx |
icd11.foundation:1304180014 |
MONDO:equivalentTo |
Benign neoplasm of lateral wall of oropharynx |
|
MONDO:0021479 |
| MONDO:0971901 |
disseminated juvenile xanthogranuloma |
icd11.foundation:1304258639 |
MONDO:equivalentTo |
Disseminated juvenile xanthogranuloma |
|
MONDO:0015534 |
| MONDO:0971902 |
isobutyric aciduria |
icd11.foundation:1304417099 |
MONDO:equivalentTo |
Isobutyric aciduria |
Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). |
MONDO:0019215 |
| MONDO:0971903 |
scoliosis with determinant |
icd11.foundation:1304512743 |
MONDO:equivalentTo |
Scoliosis with determinant |
This is a general term comprising a heterogeneous group of conditions consisting in changes in the shape |
MONDO:0005392 |
|
|
|
|
|
and position of the spine, thorax and trunk which has a clearly identifiable pathology or determinant. |
|
| MONDO:0971904 |
acute peritonsillitis |
icd11.foundation:1305150225 |
MONDO:equivalentTo |
Acute peritonsillitis |
|
MONDO:0005906 |
| MONDO:0971905 |
distal myopathy with rimmed vacuoles |
icd11.foundation:1306425531 |
MONDO:equivalentTo |
Distal myopathy with rimmed vacuoles |
Nonaka distal myopathy is a skeletal muscle disease characterised by muscle weakness sparing the quadriceps. The quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2) constitute the same pathological entity. |
MONDO:0018949 |
| MONDO:0971906 |
osteochondrosis of lateral or medial humeral condyle |
icd11.foundation:1306902733 |
MONDO:equivalentTo |
Osteochondrosis of lateral or medial humeral condyle |
|
MONDO:0018381 |
| MONDO:0971907 |
vitamin a deficiency with corneal xerosis |
icd11.foundation:1307433024 |
MONDO:equivalentTo |
Vitamin A deficiency with corneal xerosis |
Clinically, the cornea develops classical xerosis, a hazy, lustreless, dry appearance, first apparent near the inferior limbus. Many children have characteristic superficial punctate lesions of the inferior-nasal aspects of their cornea that stain brightly with fluorescein. Early in the disease they are visible only through a slit-lamp examination. With more severe disease the punctate lesions become more numerous and spread upwards over the central cornea, and the corneal stroma becomes oedematous. Thick, keratinized plaques resembling Bitot's spot may form on the corneal surface. These are often densest in the interpalpebral zone. With treatment, these corneal plaques peel off, sometimes leaving superficial erosion which quickly heals. Corneal xerosis responds within 2-5 days to vitamin A therapy, the cornea regaining its normal appearance in 1-2 weeks. |
MONDO:0001250 |
| MONDO:0971908 |
urethrotrigonitis |
icd11.foundation:1307462764 |
MONDO:equivalentTo |
Urethrotrigonitis |
|
MONDO:0001732 |
| MONDO:0971909 |
acute perforative peritonitis |
icd11.foundation:1307641658 |
MONDO:equivalentTo |
Acute perforative peritonitis |
|
MONDO:0004522 |
| MONDO:0971910 |
generalised non-inflammatory peeling skin syndrome |
icd11.foundation:1307732876 |
MONDO:equivalentTo |
Generalised non-inflammatory peeling skin syndrome |
|
MONDO:0019347 |
| MONDO:0971911 |
proximal deletions of the long arm of chromosome 7 |
icd11.foundation:1308013267 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 7 |
|
MONDO:0016906 |
| MONDO:0971912 |
unicervical bicornuate uterus |
icd11.foundation:1308207507 |
MONDO:equivalentTo |
Unicervical bicornuate uterus |
|
MONDO:0015842 |
| MONDO:0971913 |
microtia type 1 |
icd11.foundation:1308444224 |
MONDO:equivalentTo |
Microtia Type 1 |
|
MONDO:0010920 |
| MONDO:0971914 |
metaphyseal dysplasia - maxillary hypoplasia - brachydactyly |
icd11.foundation:1309213842 |
MONDO:equivalentTo |
Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly |
Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly syndrome is characterised by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). |
MONDO:0019693 |
| MONDO:0971915 |
pneumonia due to rubella |
icd11.foundation:1309500024 |
MONDO:equivalentTo |
Pneumonia due to Rubella |
|
MONDO:0004656 |
| MONDO:0971916 |
lymphoid polyp |
icd11.foundation:1309808176 |
MONDO:equivalentTo |
Lymphoid polyp |
Lymphoid polyp is a benign, focal or diffuse small polypoid lesion composed of well-differentiated lymphoid tissue. |
MONDO:0060766 |
| MONDO:0971917 |
active stage of trachoma |
icd11.foundation:1309973365 |
MONDO:equivalentTo |
Active stage of trachoma |
This refers to the active stage of an infectious disease caused by the Chlamydia trachomatis bacterium which produces a characteristic roughening of the inner surface of the eyelids. |
MONDO:0001249 |
| MONDO:0971918 |
rupture supraspinatus tendon |
icd11.foundation:1310273882 |
MONDO:equivalentTo |
Rupture supraspinatus tendon |
|
MONDO:0007028 |
| MONDO:0971919 |
palindromic rheumatism, pelvic region or thigh |
icd11.foundation:1310741662 |
MONDO:equivalentTo |
Palindromic rheumatism, pelvic region or thigh |
|
MONDO:0001332 |
| MONDO:0971920 |
primary pulmonary lymphangiectasia |
icd11.foundation:1311065679 |
MONDO:equivalentTo |
Primary pulmonary lymphangiectasia |
|
MONDO:0009933 |
| MONDO:0971921 |
psoriatic spondyloarthritis |
icd11.foundation:1311294297 |
MONDO:equivalentTo |
Psoriatic spondyloarthritis |
|
MONDO:0011849 |
| MONDO:0971922 |
respiratory tuberculosis, not confirmed |
icd11.foundation:1311939281 |
MONDO:equivalentTo |
Respiratory tuberculosis, not confirmed |
A disease of the respiratory tract, caused by an infection with the bacteria Mycobacterium tuberculosis, which has not been confirmed. This disease is characterised by a chronic cough, and sputum production that may be haemorrhagic. Transmission is commonly by inhalation of infected respiratory secretions. |
MONDO:0957462 |
| MONDO:0971923 |
chondromalacia, forearm |
icd11.foundation:131222927 |
MONDO:equivalentTo |
Chondromalacia, forearm |
|
MONDO:0002342 |
| MONDO:0971924 |
secondary trigeminal neuralgia |
icd11.foundation:1312954860 |
MONDO:equivalentTo |
Secondary trigeminal neuralgia |
Symptomatic or secondary trigeminal neuralgia is associated with hyperesthesia along the course of the fifth nerve and is observed with other cranial neuropathies. Secondary trigeminal neuralgia could be associated with bilateral sensory loss or weakness of the facial muscles or jaw or with epidermal intracranial tumours. |
MONDO:0008599 |
| MONDO:0971925 |
other viral panuveitis |
icd11.foundation:1313044714 |
MONDO:equivalentTo |
Other viral panuveitis |
|
MONDO:0017211 |
| MONDO:0971926 |
superficial frostbite |
icd11.foundation:1313691675 |
MONDO:equivalentTo |
Superficial frostbite |
Frostbite in which injury is confined to the skin, where there may be epidermal blistering and sloughing but no significant tissue necrosis. |
MONDO:0800177 |
| MONDO:0971927 |
senile corneal degeneration |
icd11.foundation:1313888804 |
MONDO:equivalentTo |
Senile corneal degeneration |
|
MONDO:0001515 |
| MONDO:0971928 |
single organ vasculitis |
icd11.foundation:1314272220 |
MONDO:equivalentTo |
Single organ vasculitis |
Vasculitis in arteries or veins of any size in a single organ that has no features that indicate that it is a limited expression of a systemic vasculitis. The involved organ and vessel type should be included in the name (e.g. cutaneous SVV, testicular arteritis, central nervous system vasculitis). Vasculitis distribution may be unifocal or multifocal (diffuse) within an organ. Some patients originally diagnosed with SOV will develop additional disease manifestations that warrant re-defining the case as one of the systemic vasculitides (e.g. cutaneous arteritis later becoming systemic polyarteritis nodosa, etc.). Chapel Hill Consensus Conference, 2011) |
MONDO:0018882 |
| MONDO:0971929 |
adult atopic eczema |
icd11.foundation:1314630323 |
MONDO:equivalentTo |
Adult atopic eczema |
Atopic eczema in adults (19 years or greater) may persist from childhood, recur in adulthood in individuals with a history of atopic eczema in childhood or, less commonly, may develop de novo in adult life. |
MONDO:0004980 |
| MONDO:0971930 |
fatal infantile lactic acidosis with methylmalonic aciduria |
icd11.foundation:1314742423 |
MONDO:equivalentTo |
Fatal infantile lactic acidosis with methylmalonic aciduria |
Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of anyone of the multiple enzymatic steps of pyruvate utilization (pyruvate translocase, pyruvate dehydrogenase, Krebs cycle enzymes, respiratory chain complexes etc.) induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects (of which it may be the presenting symptom), or to acute metabolic crisis associated with less severe defects (of which it represents a life-threatening complication). |
MONDO:0018158 |
| MONDO:0971931 |
punctate palmoplantar keratoderma, type 1 |
icd11.foundation:1314778844 |
MONDO:equivalentTo |
Punctate palmoplantar keratoderma, type 1 |
|
MONDO:0017675 |
| MONDO:0971932 |
adhesions of vagina |
icd11.foundation:1314934142 |
MONDO:equivalentTo |
Adhesions of vagina |
|
MONDO:0019007 |
| MONDO:0971933 |
miscellaneous specified forms of psoriasis |
icd11.foundation:1315062714 |
MONDO:equivalentTo |
Miscellaneous specified forms of psoriasis |
This class incorporates a number of important clinical subtypes of psoriasis with particular triggers or clinical presentations. |
MONDO:0005083 |
| MONDO:0971934 |
cardiac exhaustion |
icd11.foundation:1315369718 |
MONDO:equivalentTo |
Cardiac exhaustion |
|
MONDO:0005252 |
| MONDO:0971935 |
acroscleriasis |
icd11.foundation:1315886395 |
MONDO:equivalentTo |
Acroscleriasis |
|
MONDO:0005100 |
| MONDO:0971936 |
intestinal tuberculosis, unspecified |
icd11.foundation:131635852 |
MONDO:equivalentTo |
Intestinal tuberculosis, unspecified |
|
MONDO:0957466 |
| MONDO:0971937 |
haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency |
icd11.foundation:1317802710 |
MONDO:equivalentTo |
Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency |
Gamma-glutamylcysteine synthetase deficiency is a constitutional haemolytic anaemia, (usually rather mild), associated with the presence of neurological signs. |
MONDO:0019241 |
| MONDO:0971938 |
subacute lymphangitis |
icd11.foundation:1318411381 |
MONDO:equivalentTo |
Subacute lymphangitis |
|
MONDO:0005832 |
| MONDO:0971939 |
acute bacterial myocarditis |
icd11.foundation:1320015677 |
MONDO:equivalentTo |
Acute bacterial myocarditis |
|
MONDO:0001114 |
| MONDO:0971940 |
polyneuropathy in sarcoidosis |
icd11.foundation:1320392906 |
MONDO:equivalentTo |
Polyneuropathy in sarcoidosis |
|
MONDO:0045047 |
| MONDO:0971941 |
multisutural craniosynostosis |
icd11.foundation:1320634450 |
MONDO:equivalentTo |
Multisutural craniosynostosis |
|
MONDO:0015469 |
| MONDO:0971942 |
solitary bone cyst, pelvic region and thigh |
icd11.foundation:1320804467 |
MONDO:equivalentTo |
Solitary bone cyst, pelvic region and thigh |
|
MONDO:0019372 |
| MONDO:0971943 |
type i renal tubular acidosis |
icd11.foundation:1321454324 |
MONDO:equivalentTo |
Type I renal tubular acidosis |
Distal renal tubular acidosis is characterised by an elevation in urinary pH despite the presence of serum acidosis. Complete distal tubular renal acidosis is responsible for delayed growth, plasma acidosis with hyperchloremia, hypokalaemia, and hypercalciuria with nephrocalcinosis and hypocitruria. Deafness may be associated. |
MONDO:0001909 |
| MONDO:0971944 |
t-precursor lymphoma |
icd11.foundation:1321483028 |
MONDO:equivalentTo |
T-precursor lymphoma |
|
MONDO:0020512 |
| MONDO:0971945 |
inborn errors of carbohydrate metabolism |
icd11.foundation:1321492691 |
MONDO:equivalentTo |
Inborn errors of carbohydrate metabolism |
|
MONDO:0019052 |
| MONDO:0971946 |
juvenile psoriatic arthritis, hand |
icd11.foundation:132209442 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, hand |
|
MONDO:0019436 |
| MONDO:0971947 |
hereditary motor or sensory neuropathy, okinawa type |
icd11.foundation:1322593638 |
MONDO:equivalentTo |
Hereditary motor or sensory neuropathy, Okinawa type |
|
MONDO:0015358 |
| MONDO:0971948 |
microcephaly - brain defect - spasticity - hypernatremia |
icd11.foundation:1323483735 |
MONDO:equivalentTo |
Microcephaly - brain defect - spasticity - hypernatremia |
|
MONDO:0017119 |
| MONDO:0971949 |
sclerotenonitis |
icd11.foundation:1323614324 |
MONDO:equivalentTo |
Sclerotenonitis |
|
MONDO:0001718 |
| MONDO:0971950 |
subclinical cystic fibrosis |
icd11.foundation:1323966141 |
MONDO:equivalentTo |
Subclinical cystic fibrosis |
|
MONDO:0009061 |
| MONDO:0971951 |
complications of leprosy |
icd11.foundation:1324017222 |
MONDO:equivalentTo |
Complications of leprosy |
|
MONDO:0005124 |
| MONDO:0971952 |
inborn errors of amino acid or other organic acid metabolism |
icd11.foundation:1324115669 |
MONDO:equivalentTo |
Inborn errors of amino acid or other organic acid metabolism |
|
MONDO:0019052 |
| MONDO:0971953 |
hepatic encephalopathy, minimal |
icd11.foundation:1324559196 |
MONDO:equivalentTo |
Hepatic encephalopathy, minimal |
Minimal hepatic encephalopathy (MHE) is a known part of hepatic neurophysiological symptoms. The symptom of MHE include mild confusion, inappropriate behavior and flapping tremor. Liver dysfunction patients with MHE, have health problems related to quality of life and associated with development overt hepatic encephalopathy. In some clinical guideline, MHE is recognized and diagnosed by neurophysiological test. Major assessment is the abnormality of more than two test items in the number connection test A/B, DST, and block design test indicates MHE. |
MONDO:0001711 |
| MONDO:0971954 |
chronic granulomatous rhinitis |
icd11.foundation:1325617790 |
MONDO:equivalentTo |
Chronic granulomatous rhinitis |
|
MONDO:0004514 |
| MONDO:0971955 |
other genetic defects of cobalamine transport or metabolism |
icd11.foundation:1325700854 |
MONDO:equivalentTo |
Other genetic defects of cobalamine transport or metabolism |
|
MONDO:0019220 |
| MONDO:0971956 |
juvenile idiopathic polyarthritis |
icd11.foundation:1326412651 |
MONDO:equivalentTo |
Juvenile idiopathic polyarthritis |
Juvenile idiopathic polyarthritis is a type of juvenile idiopathic arthritis (JIA) that affects five or more joints in the first six months after onset. It often affects the same joints on each side of the body. It is more common in girls. |
MONDO:0011429 |
| MONDO:0971957 |
acute pancreatitis due to systemic disease |
icd11.foundation:1326866504 |
MONDO:equivalentTo |
Acute pancreatitis due to systemic disease |
Acute pancreatitis associated with systemic disease, such as hyperlipidaemia, hyperparathyroidism. Exclusion diagnosis of other etiology is important. |
MONDO:0006515 |
| MONDO:0971958 |
herpesvirus retinitis |
icd11.foundation:1327491005 |
MONDO:equivalentTo |
Herpesvirus retinitis |
|
MONDO:0017209 |
| MONDO:0971959 |
vertebral arterial arteriosclerotic disease |
icd11.foundation:1328727186 |
MONDO:equivalentTo |
Vertebral arterial arteriosclerotic disease |
|
MONDO:0006694 |
| MONDO:0971960 |
thyrotoxicosis with toxic single thyroid nodule |
icd11.foundation:1328823989 |
MONDO:equivalentTo |
Thyrotoxicosis with toxic single thyroid nodule |
|
MONDO:0010138 |
| MONDO:0971961 |
acute suppurative laryngitis |
icd11.foundation:1329578797 |
MONDO:equivalentTo |
Acute suppurative laryngitis |
|
MONDO:0004777 |
| MONDO:0971962 |
meningotheliomatous meningioma of unspecified site |
icd11.foundation:133019406 |
MONDO:equivalentTo |
Meningotheliomatous meningioma of unspecified site |
|
MONDO:0016642 |
| MONDO:0971963 |
viosterol deficiency |
icd11.foundation:1331250723 |
MONDO:equivalentTo |
Viosterol deficiency |
|
MONDO:0100471 |
| MONDO:0971964 |
hamartomatous polyp |
icd11.foundation:1331537078 |
MONDO:equivalentTo |
Hamartomatous polyp |
The hamartomatous polyp is a non-neoplastic, benign tumour-like malformation resulting from an abnormal formation of normal tissue. It contains mesenchymal elements of excess vascular and/or fibrous stroma and glandular proliferation with cystic dilatation. |
MONDO:0021392 |
| MONDO:0971965 |
polymorphic post-transplant lymphoproliferative disorder |
icd11.foundation:133206895 |
MONDO:equivalentTo |
Polymorphic post-transplant lymphoproliferative disorder |
|
MONDO:0020083 |
| MONDO:0971966 |
distal deletions of the short arm of chromosome 3 |
icd11.foundation:133285057 |
MONDO:equivalentTo |
Distal deletions of the short arm of chromosome 3 |
|
MONDO:0016885 |
| MONDO:0971967 |
carotid siphon and bifurcation aneurysm |
icd11.foundation:1332967677 |
MONDO:equivalentTo |
Carotid siphon and bifurcation aneurysm |
|
MONDO:0019543 |
| MONDO:0971968 |
scrofuloderma |
icd11.foundation:1333941851 |
MONDO:equivalentTo |
Scrofuloderma |
Scrofuloderma begins as a firm, subcutaneous "cold abscess" arising from an underlying tuberculous focus, usually in lymph nodes, especially those of the neck, or bones. The tuberculous abscess becomes fluctuant and breaks down to form irregular ulcers and sinus tracts which heal with scarring. |
MONDO:0021948 |
| MONDO:0971969 |
hepatic encephalopathy, stage 1 |
icd11.foundation:1334167493 |
MONDO:equivalentTo |
Hepatic encephalopathy, stage 1 |
|
MONDO:0001711 |
| MONDO:0971970 |
atresia of bladder |
icd11.foundation:1334757858 |
MONDO:equivalentTo |
Atresia of bladder |
|
MONDO:0018559 |
| MONDO:0971971 |
radiculopathy due to spondylosis |
icd11.foundation:1335192255 |
MONDO:equivalentTo |
Radiculopathy due to spondylosis |
|
MONDO:0002959 |
| MONDO:0971972 |
cerebral secondary systemic amyloidosis angiopathy |
icd11.foundation:1335701312 |
MONDO:equivalentTo |
Cerebral secondary systemic amyloidosis angiopathy |
|
MONDO:0019439 |
| MONDO:0971973 |
adenocarcinoma of middle third of oesophagus |
icd11.foundation:1336169766 |
MONDO:equivalentTo |
Adenocarcinoma of middle third of oesophagus |
|
MONDO:0005028 |
| MONDO:0971974 |
multiple carboxylase deficiency due to biotinidase deficiency |
icd11.foundation:1336432647 |
MONDO:equivalentTo |
Multiple carboxylase deficiency due to biotinidase deficiency |
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterised by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. |
MONDO:0015454 |
| MONDO:0971975 |
haemoglobinopathy-associated acquired pseudoxanthoma elasticum |
icd11.foundation:1336740058 |
MONDO:equivalentTo |
Haemoglobinopathy-associated acquired pseudoxanthoma elasticum |
Haemoglobinopathy-associated acquired pseudoxanthoma elasticum has been associated with a variety of haemoglobinopathies including sickle cell anaemia, beta-thalassaemia and hereditary spherocytosis. Clinical manifestations are similar to the genetic form but of variable severity and generally of late onset. The pathogenesis is not fully understood. |
MONDO:0016441 |
| MONDO:0971976 |
osteoporosis, forearm |
icd11.foundation:1337031344 |
MONDO:equivalentTo |
Osteoporosis, forearm |
|
MONDO:0005298 |
| MONDO:0971977 |
papillary serous tumour, low malignant potential, unspecified site |
icd11.foundation:1337813243 |
MONDO:equivalentTo |
Papillary serous tumour, low malignant potential, unspecified site |
|
MONDO:0008170 |
| MONDO:0971978 |
rieger-axenfeld anomaly |
icd11.foundation:1338180594 |
MONDO:equivalentTo |
Rieger-Axenfeld anomaly |
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies (mild craniofacial dysmorphism, dental anomalies and redundant periumbilical skin). |
MONDO:0019503 |
| MONDO:0971979 |
presenile dementia not otherwise specified |
icd11.foundation:133826396 |
MONDO:equivalentTo |
Presenile dementia not otherwise specified |
|
MONDO:0001627 |
| MONDO:0971980 |
hepatic encephalopathy, stage 3 |
icd11.foundation:1338478373 |
MONDO:equivalentTo |
Hepatic encephalopathy, stage 3 |
|
MONDO:0001711 |
| MONDO:0971981 |
miescher's elastoma |
icd11.foundation:133867021 |
MONDO:equivalentTo |
Miescher's elastoma |
|
MONDO:0007529 |
| MONDO:0971982 |
congenital absence of thigh or lower leg with foot present, bilateral |
icd11.foundation:1338891903 |
MONDO:equivalentTo |
Congenital absence of thigh or lower leg with foot present, bilateral |
|
MONDO:0017442 |
| MONDO:0971983 |
mauclaire disease |
icd11.foundation:1339046683 |
MONDO:equivalentTo |
Mauclaire disease |
|
MONDO:0018381 |
| MONDO:0971984 |
echinococcus infection of lung |
icd11.foundation:1339125651 |
MONDO:equivalentTo |
Echinococcus infection of lung |
|
MONDO:0005738 |
| MONDO:0971985 |
acute penetrated gastric ulcer |
icd11.foundation:1339279955 |
MONDO:equivalentTo |
Acute penetrated gastric ulcer |
|
MONDO:0001126 |
| MONDO:0971986 |
ornithine hyperaminoaciduria |
icd11.foundation:1339454435 |
MONDO:equivalentTo |
Ornithine hyperaminoaciduria |
|
MONDO:0017356 |
| MONDO:0971987 |
syndromic nummular or linear palmoplantar keratodermas |
icd11.foundation:1339615175 |
MONDO:equivalentTo |
Syndromic nummular or linear palmoplantar keratodermas |
|
MONDO:0017672 |
| MONDO:0971988 |
miscellaneous specified forms of lichen planus |
icd11.foundation:1340466054 |
MONDO:equivalentTo |
Miscellaneous specified forms of lichen planus |
Lichen planus which cannot be classified to another more specific category. |
MONDO:0006572 |
| MONDO:0971989 |
pyruvate dehydrogenase complex e3-binding protein deficiency |
icd11.foundation:1340729972 |
MONDO:equivalentTo |
Pyruvate dehydrogenase complex E3-binding protein deficiency |
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by variable lactic acidosis and neurological dysfunction. |
MONDO:0019169 |
| MONDO:0971990 |
disorders of vitamin d metabolism or transport |
icd11.foundation:1342341339 |
MONDO:equivalentTo |
Disorders of vitamin D metabolism or transport |
|
MONDO:0017758 |
| MONDO:0971991 |
intermittent hydrarthrosis, multiple sites |
icd11.foundation:1342415981 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, multiple sites |
|
MONDO:0018015 |
| MONDO:0971992 |
combined oxidative phosphorylation deficiency type 7 |
icd11.foundation:1343260573 |
MONDO:equivalentTo |
Combined oxidative phosphorylation deficiency type 7 |
This is the combined oxiedative deficiency addition of a phosphate (PO43-) group to a protein or other organic molecule. This diagnosis is type 6. |
MONDO:0000732 |
| MONDO:0971993 |
cholesterol polyps in gallbladder |
icd11.foundation:1343704305 |
MONDO:equivalentTo |
Cholesterol polyps in gallbladder |
|
MONDO:0021416 |
| MONDO:0971994 |
familial exudative vitreoretinopathy |
icd11.foundation:1344358838 |
MONDO:equivalentTo |
Familial exudative vitreoretinopathy |
Exudative vitreoretinopathy is a rare vitreoretinal dystrophy characterised by prematurely interrupted blood vessel development in the peripheral retina. In its typical form, large portions of avascular retina in the temporal periphery are associated with arteriovenous anastomoses and neovascular proliferations around the ischaemic area, a peripheral temporal fibrovascular mass, and a peculiar pattern of retinal vessels (vessels stretch toward temporal periphery making an acute angle as they leave the optic disk). |
MONDO:0020247 |
| MONDO:0971995 |
autoimmune hepatitis type 3 without cirrhosis |
icd11.foundation:1345743084 |
MONDO:equivalentTo |
Autoimmune hepatitis type 3 without cirrhosis |
This is a inflammatory disease caused by immune system cells attacking the liver. It is characterised by seropositivity for SLA/LP antibodies. This diagnosis occurs without cirrhosis. |
MONDO:0021177 |
| MONDO:0971996 |
long qt syndrome with hearing impairment |
icd11.foundation:1346057986 |
MONDO:equivalentTo |
Long QT syndrome with hearing impairment |
Jervell and Lange-Nielsen syndrome is an autosomal recessive variant of familial long QT syndrome characterised by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias. |
MONDO:0019589 |
| MONDO:0971997 |
rolling of gingival margin |
icd11.foundation:1346428930 |
MONDO:equivalentTo |
Rolling of gingival margin |
|
MONDO:0020782 |
| MONDO:0971998 |
migraine with typical aura |
icd11.foundation:1346577940 |
MONDO:equivalentTo |
Migraine with typical aura |
Migraine with aura in which aura consists of visual and/or sensory and/or speech/language symptoms, but no motor weakness, and is characterised by gradual development, duration of each symptom no longer than one hour, a mix of positive and negative features and complete reversibility. |
MONDO:0005475 |
| MONDO:0971999 |
osteonecrosis due to trauma, neck |
icd11.foundation:1347040346 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, neck |
|
MONDO:0018375 |
| MONDO:0972000 |
indeterminate macular leprosy |
icd11.foundation:1347079902 |
MONDO:equivalentTo |
Indeterminate macular leprosy |
|
MONDO:0001391 |
| MONDO:0972001 |
pharyngeal or tonsillar diphtheria |
icd11.foundation:1347332965 |
MONDO:equivalentTo |
Pharyngeal or tonsillar diphtheria |
|
MONDO:0005504 |
| MONDO:0972002 |
tachycardia-bradycardia syndrome |
icd11.foundation:1347341065 |
MONDO:equivalentTo |
Tachycardia-bradycardia syndrome |
Sinus pauses and/or bradycardia alternating with atrial tachycardia or atrial fibrillation. |
MONDO:0001823 |
| MONDO:0972003 |
deletions with other complex rearrangements |
icd11.foundation:1347423233 |
MONDO:equivalentTo |
Deletions with other complex rearrangements |
|
MONDO:0020054 |
| MONDO:0972004 |
cocaine dependence, early full remission |
icd11.foundation:1347425045 |
MONDO:equivalentTo |
Cocaine dependence, early full remission |
After a diagnosis of Cocaine dependence, and often following a treatment episode or other intervention (including self-help intervention), the individual has been abstinent from cocaine during a period lasting between 1 and 12 months. |
MONDO:0005186 |
| MONDO:0972005 |
indeterminate pancolitis |
icd11.foundation:1347487447 |
MONDO:equivalentTo |
Indeterminate pancolitis |
|
MONDO:0006038 |
| MONDO:0972006 |
internuclear ophthalmoplegia, unilateral |
icd11.foundation:134809132 |
MONDO:equivalentTo |
Internuclear ophthalmoplegia, unilateral |
|
MONDO:0003417 |
| MONDO:0972007 |
monostotic fibrous dysplasia, hand |
icd11.foundation:1349121084 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, hand |
|
MONDO:0019665 |
| MONDO:0972008 |
acute alcohol-induced pancreatitis |
icd11.foundation:1349182195 |
MONDO:equivalentTo |
Acute alcohol-induced pancreatitis |
Acute pancreatitis associated with alcohol consumption. Although alcohol consumption is a major cause of this disease, the diagnosis should be made after exclusion of other etiologies. |
MONDO:0006515 |
| MONDO:0972009 |
mucoepidermoid carcinoma of thymus |
icd11.foundation:1349566464 |
MONDO:equivalentTo |
Mucoepidermoid carcinoma of thymus |
|
MONDO:0006451 |
| MONDO:0972010 |
glottitis |
icd11.foundation:1349869019 |
MONDO:equivalentTo |
Glottitis |
|
MONDO:0004777 |
| MONDO:0972011 |
pathological liar |
icd11.foundation:1349901300 |
MONDO:equivalentTo |
Pathological liar |
|
MONDO:0001164 |
| MONDO:0972012 |
cicatricial lagophthalmos upper eyelid |
icd11.foundation:135088712 |
MONDO:equivalentTo |
Cicatricial lagophthalmos upper eyelid |
This is the inability to close the eyelids completely with areas of fibrous tissue (fibrosis) that replace normal skin after injury. Blinking covers the eye with a thin layer of tear fluid, thereby promoting a moist environment necessary for the cells of the exterior part of the eye. The tears also flush out foreign bodies and wash them away. This is crucial to maintain lubrication and proper eye health. If this process is impaired, as in lagophthalmos, the eye can suffer abrasions and infections. Lagophthalmos leads to corneal drying and ulceration. This diagnosis is of the upper eyelid. |
MONDO:0001623 |
| MONDO:0972013 |
double outlet right ventricle with intact ventricular septum |
icd11.foundation:1351035695 |
MONDO:equivalentTo |
Double outlet right ventricle with intact ventricular septum |
A congenital cardiovascular malformation that is a variant of double outlet right ventricle that is associated with an intact ventricular septum. |
MONDO:0018089 |
| MONDO:0972014 |
focal primary cutaneous mucinosis |
icd11.foundation:1352452075 |
MONDO:equivalentTo |
Focal primary cutaneous mucinosis |
Forms of primary cutaneous mucinosis in which there are focal accumulations of mucin in the dermis. |
MONDO:0002523 |
| MONDO:0972015 |
deafness - craniofacial syndrome |
icd11.foundation:1353196365 |
MONDO:equivalentTo |
Deafness - craniofacial syndrome |
Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). |
MONDO:0019589 |
| MONDO:0972016 |
colitis due to paracoccidioides |
icd11.foundation:1353219157 |
MONDO:equivalentTo |
Colitis due to paracoccidioides |
Paracoccidioidomycosis (PBM) is an infection caused by a dimorphic fungus called Paracoccidioides brasiliensis. The digestive tract is usually not affected, but when it occurs, it may lead to events similar to colorectal neoplasm and inflammatory bowel disease (IBD). |
MONDO:0005894 |
| MONDO:0972017 |
acute heart failure |
icd11.foundation:1353864413 |
MONDO:equivalentTo |
Acute heart failure |
|
MONDO:0005252 |
| MONDO:0972018 |
long qt syndrome, type 9 |
icd11.foundation:1354310361 |
MONDO:equivalentTo |
Long QT syndrome, type 9 |
Genetically proven Long QT syndrome type 9 (caveolin 3), with or without clinical manifestations. |
MONDO:0019171 |
| MONDO:0972019 |
infection by fasciola hepatica |
icd11.foundation:1354485286 |
MONDO:equivalentTo |
Infection by fasciola hepatica |
|
MONDO:0004668 |
| MONDO:0972020 |
exposure keratitis due to lid abnormalities |
icd11.foundation:1354703225 |
MONDO:equivalentTo |
Exposure keratitis due to lid abnormalities |
|
MONDO:0004794 |
| MONDO:0972021 |
congenital pneumonia due to rubella |
icd11.foundation:1354901847 |
MONDO:equivalentTo |
Congenital pneumonia due to Rubella |
|
MONDO:0017361 |
| MONDO:0972022 |
radiculopathy, thoracic region |
icd11.foundation:1356505419 |
MONDO:equivalentTo |
Radiculopathy, thoracic region |
|
MONDO:0002959 |
| MONDO:0972023 |
acute pulmonary insufficiency following thoracic surgery |
icd11.foundation:1357379559 |
MONDO:equivalentTo |
Acute pulmonary insufficiency following thoracic surgery |
|
MONDO:0001208 |
| MONDO:0972024 |
malignant androblastoma, unspecified site, female |
icd11.foundation:1357539267 |
MONDO:equivalentTo |
Malignant androblastoma, unspecified site, female |
|
MONDO:0008170 |
| MONDO:0972025 |
intracystic papillary neoplasm with low- or intermediate-grade intraepithelial neoplasia of gallbladder |
icd11.foundation:1358321422 |
MONDO:equivalentTo |
Intracystic papillary neoplasm with low- or intermediate-grade intraepithelial neoplasia of gallbladder |
|
MONDO:0021503 |
| MONDO:0972026 |
chronic maxillary sinus suppuration |
icd11.foundation:1358363490 |
MONDO:equivalentTo |
Chronic maxillary sinus suppuration |
|
MONDO:0001122 |
| MONDO:0972027 |
gingival fibromatosis - hypertrichosis |
icd11.foundation:135845109 |
MONDO:equivalentTo |
Gingival fibromatosis - hypertrichosis |
Gingival fibromatosis - hypertrichosis is a rare autosomal dominant disorder characterised by generalised enlargement of the gingivae occurring at birth or during childhood that is associated with generalised hypertrichosis developing at birth, during the first years of life, or even at puberty and prominently affecting the face, upper limbs, and midback. |
MONDO:0019287 |
| MONDO:0972028 |
lymphocytic gastric ulcer |
icd11.foundation:1358747489 |
MONDO:equivalentTo |
Lymphocytic gastric ulcer |
Gastric ulcer caused by lymphocytic gastritis. |
MONDO:0001126 |
| MONDO:0972029 |
echinococcus infection of central nervous system |
icd11.foundation:1359119769 |
MONDO:equivalentTo |
Echinococcus infection of central nervous system |
|
MONDO:0005738 |
| MONDO:0972030 |
acropustulosis of hallopeau |
icd11.foundation:1359173639 |
MONDO:equivalentTo |
Acropustulosis of Hallopeau |
An uncommon pustular form of psoriasis which may rarely eventuate into generalised pustular psoriasis. It is characterised by pustules and variable scaling occurring in and around the nails and nail-beds of the fingers and toes. It may cause marked nail destruction and may be associated with a distal interphalangeal joint arthritis, with palmoplantar pustulosis or with plaque psoriasis elsewhere. |
MONDO:0022205 |
| MONDO:0972031 |
deep cerebral hemispheric abscess |
icd11.foundation:1360075821 |
MONDO:equivalentTo |
Deep cerebral hemispheric abscess |
|
MONDO:0000939 |
| MONDO:0972032 |
myolipoma of unspecified site |
icd11.foundation:1361095265 |
MONDO:equivalentTo |
Myolipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0972033 |
monomelic amyotrophy of upper limb |
icd11.foundation:1361112896 |
MONDO:equivalentTo |
Monomelic amyotrophy of upper limb |
Monomelic amyotrophy of the upper limb is characterised by slowly progressive, asymmetric weakness most commonly of distal muscles innervated by the C8 and T1 spinal segments. Rarely MMA may present with only proximal upper limb weakness. Asymptomatic or mild involvement of the contralateral upper limb is common. Weakness is usually slowly progressive before reaching a plateau, and symptomatic weakness may spread to the opposite limb. MRI may show focal cervical spinal cord atrophy. |
MONDO:0011224 |
| MONDO:0972034 |
acquired monosaccharide malabsorption |
icd11.foundation:1361265641 |
MONDO:equivalentTo |
Acquired monosaccharide malabsorption |
This is an acquired condition in which the cells lining the intestine cannot take in one or all of the sugars glucose, galactose or fructose, which prevents proper digestion of these molecules and larger molecules made from them. |
MONDO:0017706 |
|
|
|
|
|
It may cause osmotic diarrhoea. |
|
| MONDO:0972035 |
dental arch length loss secondary to congenitally missing teeth |
icd11.foundation:13612887 |
MONDO:equivalentTo |
Dental arch length loss secondary to congenitally missing teeth |
|
MONDO:0008797 |
| MONDO:0972036 |
chronic ulcerative rhinitis |
icd11.foundation:1361415644 |
MONDO:equivalentTo |
Chronic ulcerative rhinitis |
|
MONDO:0004514 |
| MONDO:0972037 |
juvenile systemic arthritis, upper arm |
icd11.foundation:1361791455 |
MONDO:equivalentTo |
Juvenile systemic arthritis, upper arm |
|
MONDO:0019434 |
| MONDO:0972038 |
mucopolysaccharidosis type 1h/s |
icd11.foundation:1362195023 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 1H/S |
Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome; it is a rare lysosomal storage disease, characterised by skeletal deformities and a delay in motor development. |
MONDO:0001586 |
| MONDO:0972039 |
innervation apraxia |
icd11.foundation:1362301384 |
MONDO:equivalentTo |
Innervation apraxia |
|
MONDO:0000665 |
| MONDO:0972040 |
gonococcal bursitis, lower leg |
icd11.foundation:1362407398 |
MONDO:equivalentTo |
Gonococcal bursitis, lower leg |
|
MONDO:0001719 |
| MONDO:0972041 |
serous cystadenoma of pancreas |
icd11.foundation:1362470566 |
MONDO:equivalentTo |
Serous cystadenoma of pancreas |
|
MONDO:0021470 |
| MONDO:0972042 |
adult osteochondrosis |
icd11.foundation:1362564388 |
MONDO:equivalentTo |
Adult osteochondrosis |
|
MONDO:0018381 |
| MONDO:0972043 |
chronic acquired pure red cell aplasia |
icd11.foundation:136267428 |
MONDO:equivalentTo |
Chronic acquired pure red cell aplasia |
This refers to a chronic and acquired type of anaemia affecting the precursors to red blood cells but not to white blood cells. In PRCA, the bone marrow ceases to produce red blood cells. |
MONDO:0020338 |
| MONDO:0972044 |
diffuse unilateral subacute neuroretinitis |
icd11.foundation:1362820694 |
MONDO:equivalentTo |
Diffuse unilateral subacute neuroretinitis |
This is a rare condition that occurs in otherwise healthy, often young patients and is due to the presence of a subretinal nematode. |
MONDO:0019541 |
| MONDO:0972045 |
subacute nodular migratory panniculitis |
icd11.foundation:1362841836 |
MONDO:equivalentTo |
Subacute nodular migratory panniculitis |
|
MONDO:0850231 |
| MONDO:0972046 |
vasopressin-unresponsiveness hyposthenuria |
icd11.foundation:1362972555 |
MONDO:equivalentTo |
Vasopressin-unresponsiveness hyposthenuria |
|
MONDO:0016383 |
| MONDO:0972047 |
thalamic sporadic creutzfeldt-jakob disease |
icd11.foundation:1363394816 |
MONDO:equivalentTo |
Thalamic sporadic Creutzfeldt-Jakob Disease |
One of the few sub-types of sCJD, Thalamic sporadic Creutzfeldt-Jakob (sCJD) is characterised by severe involvement of the thalamus and inferior olivary nucleus with clinical features of predominant autonomic impairment such as insomnia like fatal familial insomnia (FFI). Magnetic resonance imaging (diffusion weighted imaging), cerebrospinal fluid, and electroencephalogram do not show characteristic features. Single photon emission computed tomography (SPECT) and positron emission tomography (PET) reveals hypometabolism of the thalamus. The accumulated prion protein is MM2 (MM2-thalamic) which means there is a type 2 abnormal prion protein with methionine homozygote at codon 129 polymorphic site of prion protein gene. |
MONDO:0016079 |
| MONDO:0972048 |
lupus anticoagulant-hypoprothrombinaemia syndrome |
icd11.foundation:136346238 |
MONDO:equivalentTo |
Lupus anticoagulant-hypoprothrombinaemia syndrome |
|
MONDO:8000010 |
| MONDO:0972049 |
extramammary paget disease of anogenital skin |
icd11.foundation:136398909 |
MONDO:equivalentTo |
Extramammary Paget disease of anogenital skin |
An intraepithelial adenocarcinoma of apocrine gland-bearing anogenital skin. It presents as irritating, itchy, burning, red scaly patches or plaques that may be solitary or multifocal and may be mistaken for an inflammatory dermatosis. |
MONDO:0008177 |
| MONDO:0972050 |
congenital anomaly of retina |
icd11.foundation:1364669945 |
MONDO:equivalentTo |
Congenital anomaly of retina |
|
MONDO:0020247 |
| MONDO:0972051 |
spastic paraplegia - nephritis - deafness |
icd11.foundation:1364971507 |
MONDO:equivalentTo |
Spastic paraplegia - nephritis - deafness |
Spastic paraplegia - nephritis - deafness syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. |
MONDO:0019064 |
| MONDO:0972052 |
dementia due to cerebrovascular disease |
icd11.foundation:1365258270 |
MONDO:equivalentTo |
Dementia due to cerebrovascular disease |
Dementia due to brain parenchyma injury resulting from cerebrovascular disease (ischemic or haemorrhagic). The onset of the cognitive deficits is temporally related to one or more vascular events. Cognitive decline is typically most prominent in speed of information processing, complex attention, and frontal-executive functioning. There is evidence of the presence of cerebrovascular disease considered to be sufficient to account for the neurocognitive deficits from history, physical examination and neuroimaging. |
MONDO:0001627 |
| MONDO:0972053 |
endometriosis in episiotomy scar |
icd11.foundation:1365285475 |
MONDO:equivalentTo |
Endometriosis in episiotomy scar |
|
MONDO:0001287 |
| MONDO:0972054 |
adenocarcinoma of fallopian tube |
icd11.foundation:1365341249 |
MONDO:equivalentTo |
Adenocarcinoma of fallopian tube |
An adenocarcinoma that arises from the fallopian tube. Histologic subtypes include clear cell, endometrioid, serous, and mucinous adenocarcinoma. It spreads to adjacent organs, regional lymph nodes, and peritoneum. |
MONDO:0002158 |
| MONDO:0972055 |
squamous cell carcinoma of posterior wall of oropharynx |
icd11.foundation:1365886109 |
MONDO:equivalentTo |
Squamous cell carcinoma of posterior wall of oropharynx |
|
MONDO:0044704 |
| MONDO:0972056 |
xanthinuria type 1 |
icd11.foundation:1365934556 |
MONDO:equivalentTo |
Xanthinuria type 1 |
Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterised by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinaemia with low or absent uric acid and xanthinuria, leading to urolithiasis, haematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. |
MONDO:0000721 |
| MONDO:0972057 |
congenital fibrosis of extraocular muscles 1a |
icd11.foundation:1365993362 |
MONDO:equivalentTo |
Congenital fibrosis of extraocular muscles 1A |
|
MONDO:0007614 |
| MONDO:0972058 |
sclerocornea, bilateral |
icd11.foundation:1366091634 |
MONDO:equivalentTo |
Sclerocornea, bilateral |
|
MONDO:0019629 |
| MONDO:0972059 |
otosclerosis involving oval window, obliterative |
icd11.foundation:1366359907 |
MONDO:equivalentTo |
Otosclerosis involving oval window, obliterative |
|
MONDO:0005349 |
| MONDO:0972060 |
spindle cell lipoma of unspecified site |
icd11.foundation:1366437821 |
MONDO:equivalentTo |
Spindle cell lipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0972061 |
chronic pneumothorax |
icd11.foundation:1366451630 |
MONDO:equivalentTo |
Chronic pneumothorax |
|
MONDO:0002076 |
| MONDO:0972062 |
2-aminoadipic aciduria |
icd11.foundation:1366863996 |
MONDO:equivalentTo |
2-aminoadipic aciduria |
|
MONDO:0017351 |
| MONDO:0972063 |
parakeratosis pustulosa |
icd11.foundation:1367017851 |
MONDO:equivalentTo |
Parakeratosis pustulosa |
Parakeratosis pustulosa is a localised non-infective scaling erythematous and often pustular inflammatory disorder of periungual skin in children. Usually only a single digit is affected, more commonly a finger than a toe; the adjacent nail plate is dystrophic. The condition is thought to predispose to psoriasis later in life. |
MONDO:0022205 |
| MONDO:0972064 |
mesomelic dysplasia - skin dimples |
icd11.foundation:1367654860 |
MONDO:equivalentTo |
Mesomelic dysplasia - skin dimples |
Mesomelic dysplasia - skin dimples syndrome is an extremely rare syndrome characterised by bone anomalies (mesomelic dysplasia of the of the upper extremities and meta-epiphyseal alterations of the lower extremities) and skin dimples. |
MONDO:0019697 |
| MONDO:0972065 |
acute oedematous laryngitis |
icd11.foundation:1367810857 |
MONDO:equivalentTo |
Acute oedematous laryngitis |
|
MONDO:0004777 |
| MONDO:0972066 |
hypertrophic laryngitis |
icd11.foundation:1367950759 |
MONDO:equivalentTo |
Hypertrophic laryngitis |
|
MONDO:0001369 |
| MONDO:0972067 |
congenital cardiomyopathy |
icd11.foundation:1368167755 |
MONDO:equivalentTo |
Congenital cardiomyopathy |
|
MONDO:0009169 |
| MONDO:0972068 |
extrapontine central pontine myelinolysis |
icd11.foundation:1368206692 |
MONDO:equivalentTo |
Extrapontine central pontine myelinolysis |
Extrapontine myelinolysis is often symmetrical and characterised by demyelinating lesions in the cerebral cortex, external capsule, basal ganglia, or midbrain with pontine and pallidal sparing. |
MONDO:0006692 |
|
|
|
|
|
Extrapontine central pontine myelinolysis has a greater clinical heterogeneity with extrapontine involvement such as oromandibular and focal dystonia, spasmodic dysphonia, ataxia, parkinsonism, tremors, myoclonus, delirium and emotional lability due to involvement of basal ganglia. |
|
| MONDO:0972069 |
cervical disc disorder with radiculopathy |
icd11.foundation:1368280339 |
MONDO:equivalentTo |
Cervical disc disorder with radiculopathy |
|
MONDO:0002959 |
| MONDO:0972070 |
pigeon fanciers' lung |
icd11.foundation:1368353167 |
MONDO:equivalentTo |
Pigeon fanciers' lung |
|
MONDO:0005668 |
| MONDO:0972071 |
fetal warfarin syndrome |
icd11.foundation:1368779017 |
MONDO:equivalentTo |
Fetal warfarin syndrome |
|
MONDO:0016010 |
| MONDO:0972072 |
pulmonary veno-occlusive disease |
icd11.foundation:1368993024 |
MONDO:equivalentTo |
Pulmonary veno-occlusive disease |
This is a condition in which some of the small veins in the lungs are obstructed and/or is a rare cause of pulmonary hypertension which occurs predominantly in young adults. |
MONDO:0015924 |
| MONDO:0972073 |
papillary mucinous tumour of low malignant potential of ovary |
icd11.foundation:1369585807 |
MONDO:equivalentTo |
Papillary mucinous tumour of low malignant potential of ovary |
|
MONDO:0008170 |
| MONDO:0972074 |
laryngotracheooesophageal cleft type iii |
icd11.foundation:1369602668 |
MONDO:equivalentTo |
Laryngotracheooesophageal cleft type III |
Laryngo-tracheo-oesophageal cleft, type 3 is a congenital respiratory tract anomaly characterised by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage. |
MONDO:0016060 |
| MONDO:0972075 |
classical hodgkin lymphoma, lymphocyte depletion, reticular |
icd11.foundation:1369607759 |
MONDO:equivalentTo |
Classical Hodgkin lymphoma, lymphocyte depletion, reticular |
|
MONDO:0004620 |
| MONDO:0972076 |
palpebral cleft or coloboma, unilateral |
icd11.foundation:1369978989 |
MONDO:equivalentTo |
Palpebral cleft or coloboma, unilateral |
This is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. This diagnosis is occurring in one eye (unilateral). |
MONDO:0020357 |
| MONDO:0972077 |
congenital genu valgum |
icd11.foundation:1369981069 |
MONDO:equivalentTo |
Congenital genu valgum |
|
MONDO:0017429 |
| MONDO:0972078 |
trichinosis encephalitis |
icd11.foundation:1370245190 |
MONDO:equivalentTo |
Trichinosis encephalitis |
|
MONDO:0019444 |
| MONDO:0972079 |
basaloid carcinoma of oropharynx |
icd11.foundation:1370530808 |
MONDO:equivalentTo |
Basaloid carcinoma of oropharynx |
|
MONDO:0044704 |
| MONDO:0972080 |
monstrocellular sarcoma of unspecified site |
icd11.foundation:1371813087 |
MONDO:equivalentTo |
Monstrocellular sarcoma of unspecified site |
|
MONDO:0016682 |
| MONDO:0972081 |
circumscribed labyrinthitis |
icd11.foundation:1371983536 |
MONDO:equivalentTo |
Circumscribed labyrinthitis |
|
MONDO:0002008 |
| MONDO:0972082 |
inosine triphosphate pyrophosphohydrolase deficiency |
icd11.foundation:1372508262 |
MONDO:equivalentTo |
Inosine triphosphate pyrophosphohydrolase deficiency |
This refers to deficiency an enzyme that in humans is encoded by the ITPA gene, by the rdgB gene in bacteria E.coli and the HAM1 gene in yeast S. cerevisiae. |
MONDO:0019236 |
| MONDO:0972083 |
combined oxidative phosphorylation deficiency type 1 |
icd11.foundation:1373381208 |
MONDO:equivalentTo |
Combined oxidative phosphorylation deficiency type 1 |
This is the combined oxiedative deficiency addition of a phosphate (PO43-) group to a protein or other organic molecule. This diagnosis is type 1. |
MONDO:0000732 |
| MONDO:0972084 |
aneurysmal bone cyst, neck |
icd11.foundation:1374269568 |
MONDO:equivalentTo |
Aneurysmal bone cyst, neck |
|
MONDO:0018815 |
| MONDO:0972085 |
distal deletions of the long arm of chromosome 4 |
icd11.foundation:1375283057 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 4 |
|
MONDO:0016903 |
| MONDO:0972086 |
papular palmoplantar keratodermas |
icd11.foundation:1375600174 |
MONDO:equivalentTo |
Papular palmoplantar keratodermas |
Palmoplantar keratoderma characterised by the presence of multiple small discrete hyperkeratotic papules involving palmar and plantar skin. |
MONDO:0019272 |
| MONDO:0972087 |
polyneuropathy in polyarteritis nodosa |
icd11.foundation:1375932555 |
MONDO:equivalentTo |
Polyneuropathy in polyarteritis nodosa |
|
MONDO:0019170 |
| MONDO:0972088 |
spondylolysis, cervical region |
icd11.foundation:1375956998 |
MONDO:equivalentTo |
Spondylolysis, cervical region |
|
MONDO:0005541 |
| MONDO:0972089 |
schistosomiasis due to schistosoma haematobium |
icd11.foundation:1376448576 |
MONDO:equivalentTo |
Schistosomiasis due to Schistosoma haematobium |
A disease caused by an infection with the parasitic worm Schistosoma haematobium. This disease is characterised by haematuria, scarring, calcification, or squamous cell carcinoma. This disease may also present with embolic egg granulomas in the brain or spinal cord. Transmission is by direct contact with freshwater that has been contaminated with Schistosoma haematobium eggs or snails that carry Schistosoma haematobium. |
MONDO:0015254 |
| MONDO:0972090 |
congenital coronary arterial aneurysm |
icd11.foundation:1376805686 |
MONDO:equivalentTo |
Congenital coronary arterial aneurysm |
A congenital cardiovascular malformation in which there is one or more localized dilation(s) of a coronary vessel. |
MONDO:0015203 |
|
|
|
|
|
|
|
|
|
|
|
|
Additional information: coronary artery aneurysms are usually seen in two forms, saccular (shaped like a sack, with a change in caliber over a very short distance), and fusiform (shaped like a spindle, tapering towards each end), and both may be single or multiple. |
|
| MONDO:0972091 |
deletions of chromosome 16 |
icd11.foundation:1376932450 |
MONDO:equivalentTo |
Deletions of chromosome 16 |
|
MONDO:0020054 |
| MONDO:0972092 |
organ-limited amyloidosis |
icd11.foundation:1376966206 |
MONDO:equivalentTo |
Organ-limited amyloidosis |
This is a category of amyloidosis where the distribution can be associated primarily with a single organ. It is contrasted to systemic amyloidosis, and it can be caused by several different types of amyloid. In almost all of the organ-specific pathologies, there is significant debate as to whether the amyloid plaques are the causal agent of the disease or instead a downstream consequence of a common idiopathic agent. |
MONDO:0019438 |
| MONDO:0972093 |
complement component c7 deficiency |
icd11.foundation:137714962 |
MONDO:equivalentTo |
Complement component C7 deficiency |
Complement component 7 deficiency (C7D)is a protein involved in the complement system, where its primary task is to bind the C5bC6 complex together. C7D is a rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis |
MONDO:0015700 |
| MONDO:0972094 |
alloimmune haemolytic anaemia |
icd11.foundation:1377507376 |
MONDO:equivalentTo |
Alloimmune haemolytic anaemia |
A disease caused by determinants such as a blood transfusion that lead to an immune response directed against the person's own red blood cells. This disease is characterised by low levels of red blood cells in the body due to abnormal destruction of the red blood cells. This disease may present with pallor, fatigue, or shortness of breath. Confirmation is by identification of low red blood cell count in a blood sample. |
MONDO:0020108 |
| MONDO:0972095 |
nodular amyloidosis |
icd11.foundation:1377590506 |
MONDO:equivalentTo |
Nodular amyloidosis |
A rare form of cutaneous amyloidosis characterised by single or multiple waxy nodules or infiltrated plaques on the trunk or limbs. It is due to localised deposition of lambda light chains thought to be produced by plasma cells in the skin. A minority of patients have a detectable circulating paraprotein band. There is a small risk of progression to primary systemic amyloidosis. |
MONDO:0019438 |
| MONDO:0972096 |
16p13.11 duplication |
icd11.foundation:1377848898 |
MONDO:equivalentTo |
16p13.11 duplication |
16p13.11 microduplication syndrome is achromosomal anomaly associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Behavioural abnormalities include attention deficit/hyperactivity disorder, aggression and disruptive temperament, and autistic spectrum disorders. Skeletal manifestations include hypermobility, craniosynostosis and polydactyly. |
MONDO:0016949 |
| MONDO:0972097 |
systemic lupus erythematosus with immune system involvement |
icd11.foundation:1378556283 |
MONDO:equivalentTo |
Systemic lupus erythematosus with immune system involvement |
|
MONDO:0007915 |
| MONDO:0972098 |
visceral leishmaniasis due to leishmania chagasi |
icd11.foundation:1379259731 |
MONDO:equivalentTo |
Visceral leishmaniasis due to Leishmania chagasi |
|
MONDO:0005445 |
| MONDO:0972099 |
retrocecal appendicitis |
icd11.foundation:137948740 |
MONDO:equivalentTo |
Retrocecal appendicitis |
|
MONDO:0005649 |
| MONDO:0972100 |
sciatic nerve piriformis syndrome |
icd11.foundation:1379565645 |
MONDO:equivalentTo |
Sciatic nerve piriformis syndrome |
|
MONDO:0001543 |
| MONDO:0972101 |
fusiform bronchiectasis |
icd11.foundation:1379836634 |
MONDO:equivalentTo |
Fusiform bronchiectasis |
|
MONDO:0004822 |
| MONDO:0972102 |
pelizaeus-merzbacher-like due to slc16a2 mutation |
icd11.foundation:1381085790 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher-like due to SLC16A2 mutation |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; ). This type is due to a mutation in the SLC16A2 gene. |
MONDO:0017226 |
| MONDO:0972103 |
hyper-igm syndrome due to cd40 deficiency |
icd11.foundation:1381161550 |
MONDO:equivalentTo |
Hyper-IgM syndrome due to CD40 deficiency |
This is a form of Hyper IgM syndrome characterised by mutations of the CD40 gene. In this type, B cells cannot receive the signal from T cells to switch classes. |
MONDO:0018040 |
| MONDO:0972104 |
congenital glucose-galactose intolerance |
icd11.foundation:138189107 |
MONDO:equivalentTo |
Congenital glucose-galactose intolerance |
|
MONDO:0017706 |
| MONDO:0972105 |
autosomal dominant polycystic kidney disease type 1 without tuberous sclerosis |
icd11.foundation:138190385 |
MONDO:equivalentTo |
Autosomal dominant polycystic kidney disease type 1 without tuberous sclerosis |
Autosomal dominant polycystic kidney disease due to mutations on Polycystin1 gene on chromosome 16 (PKD1 gene) |
MONDO:0004691 |
| MONDO:0972106 |
venous thromboembolism originating from iliac vein |
icd11.foundation:1383585831 |
MONDO:equivalentTo |
Venous thromboembolism originating from iliac vein |
|
MONDO:0005399 |
| MONDO:0972107 |
angulation of ureter with infection |
icd11.foundation:1383760857 |
MONDO:equivalentTo |
Angulation of ureter with infection |
|
MONDO:0021750 |
| MONDO:0972108 |
monocular esotropia with other noncomitancies |
icd11.foundation:1384764384 |
MONDO:equivalentTo |
Monocular esotropia with other noncomitancies |
Monocular esotropia with other noncomitancies is an abnormal binocular alignment in which one of the eyes has an inward deviation. The additional descriptive feature of noncomitancies is specified in which the size of the inward misalignment varies depending on the direction of gaze. |
MONDO:0004896 |
| MONDO:0972109 |
hermansky-pudlak syndrome type 7 |
icd11.foundation:1385835737 |
MONDO:equivalentTo |
Hermansky-Pudlak syndrome type 7 |
|
MONDO:0019312 |
| MONDO:0972110 |
alexanders disease adult form |
icd11.foundation:138772190 |
MONDO:equivalentTo |
Alexanders disease adult form |
Neurodegenerative disorder occurring in adulthood with varying characteristics from patient to patient. |
MONDO:0008752 |
| MONDO:0972111 |
disorders of surfactant metabolism |
icd11.foundation:1387730200 |
MONDO:equivalentTo |
Disorders of surfactant metabolism |
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation |
MONDO:0017015 |
| MONDO:0972112 |
coppock-like cataract |
icd11.foundation:1388192717 |
MONDO:equivalentTo |
Coppock-like cataract |
|
MONDO:0011060 |
| MONDO:0972113 |
dpm3 congenital disorder of glycosylation |
icd11.foundation:1389256016 |
MONDO:equivalentTo |
DPM3 congenital disorder of glycosylation |
Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome characterised clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy. |
MONDO:0017740 |
| MONDO:0972114 |
acute panmyelosis with myelofibrosis in complete remission |
icd11.foundation:138971096 |
MONDO:equivalentTo |
Acute panmyelosis with myelofibrosis in complete remission |
|
MONDO:0019455 |
| MONDO:0972115 |
vitamin d deficiency osteomalacia |
icd11.foundation:1392131952 |
MONDO:equivalentTo |
Vitamin D deficiency osteomalacia |
Osteomalacia is a disorder of defective mineralization of newly formed osteoid at sites of bone turnover. Several different disorders cause osteomalacia via mechanisms that result in hypocalcaemia, hypophosphatemia, or direct inhibition of the mineralization process. Severe vitamin D deficiency, secondary to inadequate dietary intake, lack of sun exposure, gastric bypass or malabsorption (celiac disease), is the most common cause of osteomalacia in adults. |
MONDO:0100471 |
| MONDO:0972116 |
abdominal aortic aneurysm with perforation |
icd11.foundation:1392255323 |
MONDO:equivalentTo |
Abdominal aortic aneurysm with perforation |
|
MONDO:0005350 |
| MONDO:0972117 |
lymphocytic duodenal ulcer |
icd11.foundation:1392612215 |
MONDO:equivalentTo |
Lymphocytic duodenal ulcer |
Duodenal ulcer caused by lymphocytic duodenitis |
MONDO:0005412 |
| MONDO:0972118 |
hepatic methionine adenosyltransferase deficiency |
icd11.foundation:1393564399 |
MONDO:equivalentTo |
Hepatic methionine adenosyltransferase deficiency |
|
MONDO:0019222 |
| MONDO:0972119 |
other forms of botulism |
icd11.foundation:1393712712 |
MONDO:equivalentTo |
Other forms of botulism |
|
MONDO:0005498 |
| MONDO:0972120 |
fibrodysplasia ossificans progressiva, hand |
icd11.foundation:1394170414 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, hand |
|
MONDO:0007606 |
| MONDO:0972121 |
atresia of oesophagus with oesophagobronchial fistula |
icd11.foundation:1394325720 |
MONDO:equivalentTo |
Atresia of oesophagus with oesophagobronchial fistula |
|
MONDO:0008586 |
| MONDO:0972122 |
hypospadias, perineal |
icd11.foundation:1395446936 |
MONDO:equivalentTo |
Hypospadias, perineal |
A condition of the urethra affecting males, caused by determinants arising during the antenatal period. This condition is characterised by a malformation of the urethra and the ventral side of the penis and an abnormally placed urinary meatus that opens in the perineum. This condition may also present with an incomplete foreskin that forms a hood. |
MONDO:0005345 |
| MONDO:0972123 |
tuberculosis of cervical lymph nodes |
icd11.foundation:13955071 |
MONDO:equivalentTo |
Tuberculosis of cervical lymph nodes |
|
MONDO:0957461 |
| MONDO:0972124 |
autosomal recessive malignant osteopetrosis |
icd11.foundation:139593057 |
MONDO:equivalentTo |
Autosomal recessive malignant osteopetrosis |
Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. |
MONDO:0017198 |
| MONDO:0972125 |
osteochondritis of the distal humerus |
icd11.foundation:1396058823 |
MONDO:equivalentTo |
Osteochondritis of the distal humerus |
|
MONDO:0018381 |
| MONDO:0972126 |
abdominal pregnancy |
icd11.foundation:1396448570 |
MONDO:equivalentTo |
Abdominal pregnancy |
A condition characterised by implantation of the embryo within the peritoneal cavity during pregnancy. |
MONDO:0000755 |
| MONDO:0972127 |
stokvis disease |
icd11.foundation:1397401368 |
MONDO:equivalentTo |
Stokvis disease |
|
MONDO:0018740 |
| MONDO:0972128 |
distal symphalangism, bilateral |
icd11.foundation:1397788972 |
MONDO:equivalentTo |
Distal symphalangism, bilateral |
|
MONDO:0008509 |
| MONDO:0972129 |
idiopathic isolated dilated cardiomyopathy |
icd11.foundation:1398145873 |
MONDO:equivalentTo |
Idiopathic isolated dilated cardiomyopathy |
Idiopathic isolated dilated cardiomyopathy is the presence of dilated cardiomyopathy in the absence of an identifiable cause such as a storage or autoimmune disorder, sarcomeric or other gene mutation, or exposure to an infection or toxin, known to be significantly associated with dilated cardiomyopathy. |
MONDO:0016338 |
| MONDO:0972130 |
16p11.2 deletion |
icd11.foundation:1398449020 |
MONDO:equivalentTo |
16p11.2 deletion |
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterised by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. |
MONDO:0016894 |
| MONDO:0972131 |
retinopathy of prematurity, stage 5 |
icd11.foundation:1398607571 |
MONDO:equivalentTo |
Retinopathy of prematurity, Stage 5 |
Stage 5: Total Retinal Detachment: Retinal detachments are generally tractional and usually funnel shaped. The configuration of the funnel itself is used for subdivision of this stage depending on if the anterior and posterior portions are open or narrowed. |
MONDO:0006952 |
| MONDO:0972132 |
46,xx androgen-induced disorders of sex development due to a virilizing maternal ovarian or adrenal tumour |
icd11.foundation:1398926410 |
MONDO:equivalentTo |
46,XX androgen-induced disorders of sex development due to a virilizing maternal ovarian or adrenal tumour |
This refers to 46,XX disorders of sex development induced by any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of male characteristics in vertebrates by binding to androgen receptors. This is due to a virilizing maternal ovarian or adrenal tumour. |
MONDO:0019608 |
| MONDO:0972133 |
inflammatory polyp of large intestine |
icd11.foundation:1399661582 |
MONDO:equivalentTo |
Inflammatory polyp of large intestine |
Inflammatory polyps occur as a result of the chronic inflammation that takes place in the colon and rectum. |
MONDO:0021392 |
| MONDO:0972134 |
coronary atherosclerosis of autologous bypass graft |
icd11.foundation:1399791513 |
MONDO:equivalentTo |
Coronary atherosclerosis of autologous bypass graft |
Atherosclerotic lesions, or atherosclerotic plaques of autologous bypass graft. |
MONDO:0021661 |
| MONDO:0972135 |
18q deletion |
icd11.foundation:1400198723 |
MONDO:equivalentTo |
18q deletion |
|
MONDO:0011147 |
| MONDO:0972136 |
familial partial lipodystrophy due to akt2 mutations |
icd11.foundation:1401460355 |
MONDO:equivalentTo |
Familial partial lipodystrophy due to AKT2 mutations |
Familial partial lipodystrophy associated with AKT2 mutations belongs to the group of lipodystrophy syndromes characterised by anomalies of adipose tissue distribution and often associated with severe insulin resistance manifested by hyperinsulinaemia (insulin levels above 20mUI/l), carbohydrate intolerance or diabetes, hypertriglyceridaemia with low levels of high-density lipoproteins (HDL) and arterial hypertension. Acanthosis nigricans, hepatic steatosis and polycystic ovary syndrome are also frequent. |
MONDO:0020088 |
| MONDO:0972137 |
uterovaginal prolapse |
icd11.foundation:1402181248 |
MONDO:equivalentTo |
Uterovaginal prolapse |
|
MONDO:0000082 |
| MONDO:0972138 |
mitochondrial oxidative phosphorylation disorders due to mitochondrial dna anomalies |
icd11.foundation:1403457085 |
MONDO:equivalentTo |
Mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies |
This refers to disorders in the metabolic pathway in which the mitochondria in cells use their structure, enzymes, and energy released by the oxidation of nutrients to reform ATP. This diagnosis is due to mitochondrial DNA anomalies. |
MONDO:0016387 |
| MONDO:0972139 |
acute erythroid leukaemia in complete remission |
icd11.foundation:1403617129 |
MONDO:equivalentTo |
Acute erythroid leukaemia in complete remission |
|
MONDO:0017858 |
| MONDO:0972140 |
paroxysmal kinesigenic dyskinesia |
icd11.foundation:1404801288 |
MONDO:equivalentTo |
Paroxysmal kinesigenic dyskinesia |
Paroxysmal kinesigenic dyskinesia onset is typically during childhood, between 5 and 15 years of age, with males being more commonly affected then females with ratios ranging from 2:1 to 4:1 The condition may be familial or sporadic. Most commonly, the condition is inherited in an autosomally dominant fashion, however there some reports of autosomal recessive inheritance as well. The attacks are typically precipitated by startle or a sudden movement after a period of rest. Many individuals have a PRRT2 gene mutation. |
MONDO:0016058 |
| MONDO:0972141 |
chronic myelomonocytic leukaemia type 1 |
icd11.foundation:1404984529 |
MONDO:equivalentTo |
Chronic myelomonocytic leukaemia Type 1 |
|
MONDO:0020311 |
| MONDO:0972142 |
osteonecrosis due to trauma, forearm |
icd11.foundation:1405505032 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, forearm |
|
MONDO:0018375 |
| MONDO:0972143 |
behet arthritis |
icd11.foundation:1406315042 |
MONDO:equivalentTo |
Behet arthritis |
|
MONDO:0007191 |
| MONDO:0972144 |
benign intrahepatic cholestasis type 2 |
icd11.foundation:1406591937 |
MONDO:equivalentTo |
Benign intrahepatic cholestasis type 2 |
|
MONDO:0019008 |
| MONDO:0972145 |
hyaline membrane disease |
icd11.foundation:1406980855 |
MONDO:equivalentTo |
Hyaline membrane disease |
|
MONDO:0009971 |
| MONDO:0972146 |
certain specified leukodystrophies |
icd11.foundation:1407140179 |
MONDO:equivalentTo |
Certain specified leukodystrophies |
|
MONDO:0019046 |
| MONDO:0972147 |
drug-induced adrenogenital disorders |
icd11.foundation:1407322469 |
MONDO:equivalentTo |
Drug-induced adrenogenital disorders |
|
MONDO:0015898 |
| MONDO:0972148 |
mast cell leukaemia in complete remission |
icd11.foundation:1407924105 |
MONDO:equivalentTo |
Mast cell leukaemia in complete remission |
|
MONDO:0020334 |
| MONDO:0972149 |
x-linked intellectual deficit, porteous type |
icd11.foundation:1408006593 |
MONDO:equivalentTo |
X-linked intellectual deficit, Porteous type |
|
MONDO:0010653 |
| MONDO:0972150 |
tetralogy of fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
icd11.foundation:1408174111 |
MONDO:equivalentTo |
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
A congenital cardiovascular malformation that is a variant of tetralogy of Fallot in which there is no direct communication between the right ventricle and the pulmonary arterial tree and there are collateral blood vessels between the systemic and pulmonary arteries. |
MONDO:0008542 |
| MONDO:0972151 |
carcinomatous meningitis |
icd11.foundation:1408272267 |
MONDO:equivalentTo |
Carcinomatous meningitis |
Inflammation of the meninges due to carcinomatous infiltration. The syndrome is clinically characterised by headache, neck stiffness, fever and photophobia with potential progression to stupor and coma. The presentation may be acute, subacute or chronic. Diagnosis may be aided by neuroimaging and spinal fluid analysis which may reveal a lymphocytic pleocytosis, raised protein and the presence of malignant cells on cytology. |
MONDO:0700219 |
| MONDO:0972152 |
post traumatic hydrocephalus |
icd11.foundation:140858085 |
MONDO:equivalentTo |
Post traumatic hydrocephalus |
#DRAFT# This is a type of communicating hydrocephalus following head injuries caused by the accumulation of blood in the subarachnoid space and promoting blockage of the CSF pathways outside the ventricular system. |
MONDO:0002045 |
| MONDO:0972153 |
familial-genetic hypertrophic cardiomyopathy |
icd11.foundation:1408928442 |
MONDO:equivalentTo |
Familial-genetic hypertrophic cardiomyopathy |
Familial isolated hypertrophic cardiomyopathy is the presence of non-syndromic hypertrophic cardiomyopathy in multiple members of a pedigree, or in the presence of a genetic mutation known to be significantly associated with hypertrophic cardiomyopathy. |
MONDO:0005045 |
| MONDO:0972154 |
amyopathic juvenile dermatomyositis |
icd11.foundation:140962917 |
MONDO:equivalentTo |
Amyopathic juvenile dermatomyositis |
Juvenile-onset amyopathic dermatomyositis is an uncommon variant of juvenile-onset dermatomyositis (JDM), characterised by the hallmark cutaneous features of dermatomyositis for at least 6 months without clinical or laboratory evidence of muscle disease. Cutaneous calcinosis, vasculopathy, and interstitial lung disease frequently complicate the course of classic JDM, but are infrequent in amyopathic JDM. Approximately 75% of amyopathic JDM patients will remain free from muscle disease after years of follow-up, while approximately 25% of patients will evolve to having classic JDM. |
MONDO:0008054 |
| MONDO:0972155 |
invasive cardiac aspergillosis |
icd11.foundation:1409737155 |
MONDO:equivalentTo |
Invasive cardiac aspergillosis |
|
MONDO:0000240 |
| MONDO:0972156 |
cranial diabetes insipidus |
icd11.foundation:1409762098 |
MONDO:equivalentTo |
Cranial diabetes insipidus |
|
MONDO:0015790 |
| MONDO:0972157 |
developmental delay - deafness, hildebrand type |
icd11.foundation:1409901058 |
MONDO:equivalentTo |
Developmental delay - deafness, Hildebrand type |
|
MONDO:0019589 |
| MONDO:0972158 |
double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis, ventricular septal defect type |
icd11.foundation:1410257155 |
MONDO:equivalentTo |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis, ventricular septal defect type |
A congenital cardiovascular malformation that is a variant of double outlet right ventricle with concordant atrioventricular connections, a subaortic or doubly-committed (with absence or deficiency of the conal septum) ventricular septal defect, and unobstructed pulmonary outflow tract. |
MONDO:0018089 |
| MONDO:0972159 |
citrullinaemia type 1 |
icd11.foundation:1410274578 |
MONDO:equivalentTo |
Citrullinaemia type 1 |
Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, ) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, ). |
MONDO:0015991 |
| MONDO:0972160 |
trichomegaly - retina pigmentary degeneration - dwarfism |
icd11.foundation:1410554976 |
MONDO:equivalentTo |
Trichomegaly - retina pigmentary degeneration - dwarfism |
Trichomegaly - retina pigmentary degeneration - dwarfism syndrome is characterised by growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa, and moderate intellectual deficit in the majority of cases. |
MONDO:0019287 |
| MONDO:0972161 |
cortical aphasia |
icd11.foundation:1410943204 |
MONDO:equivalentTo |
Cortical aphasia |
|
MONDO:0000598 |
| MONDO:0972162 |
age-related cataract |
icd11.foundation:1412073350 |
MONDO:equivalentTo |
Age-related cataract |
A senile cataract is a clouding of the lens of the eye, which impedes the passage of light, related to ageing, and that occurs usually starting from the age of 40. |
MONDO:0005129 |
| MONDO:0972163 |
congenital subglottic stenosis, grade 3 |
icd11.foundation:141215145 |
MONDO:equivalentTo |
Congenital subglottic stenosis, grade 3 |
A condition characterised by between 75% and 99% stenosis according to the Cotton-Meyer scale. |
MONDO:0015395 |
| MONDO:0972164 |
mucopolysaccharidosis type 2b |
icd11.foundation:1412221345 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 2B |
Mucopolysaccharidosis type 2, attenuated form, the less severe form of mucopolysaccharidosis type 2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline. |
MONDO:0010674 |
| MONDO:0972165 |
ulcerative pancolitis |
icd11.foundation:1412360037 |
MONDO:equivalentTo |
Ulcerative pancolitis |
|
MONDO:0005101 |
| MONDO:0972166 |
parkes-weber syndrome |
icd11.foundation:1412478956 |
MONDO:equivalentTo |
Parkes-Weber syndrome |
Parkes-Weber syndrome (OMIM 608355) is characterised by one or more cutaneous capillary malformations associated with underlying multiple micro-arteriovenous malformations and soft tissue and skeletal hypertrophy of the affected limb. Cases in which the there are multiple capillary malformations have been found to have a mutation in the RASA1 gene. It differs from Klippel-Trnaunay syndrome in which the vascular malformations are slow flow and there is no association with the RASA1 gene. |
MONDO:0007864 |
| MONDO:0972167 |
gephyrophobia |
icd11.foundation:1413280456 |
MONDO:equivalentTo |
Gephyrophobia |
|
MONDO:0012000 |
| MONDO:0972168 |
benign neoplasm of internal lower lip |
icd11.foundation:141371026 |
MONDO:equivalentTo |
Benign neoplasm of internal lower lip |
|
MONDO:0021496 |
| MONDO:0972169 |
segmental enteritis |
icd11.foundation:1413938551 |
MONDO:equivalentTo |
Segmental enteritis |
|
MONDO:0005011 |
| MONDO:0972170 |
granular cell myoblastoma of tongue |
icd11.foundation:1414017815 |
MONDO:equivalentTo |
Granular cell myoblastoma of tongue |
|
MONDO:0021476 |
| MONDO:0972171 |
other secondary osteonecrosis |
icd11.foundation:1414391995 |
MONDO:equivalentTo |
Other secondary osteonecrosis |
This is a disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. |
MONDO:0005380 |
| MONDO:0972172 |
fibrodysplasia ossificans progressiva, multiple sites |
icd11.foundation:1415223621 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, multiple sites |
|
MONDO:0007606 |
| MONDO:0972173 |
chondrodysplasia punctata, brachytelephalangic type |
icd11.foundation:1415807278 |
MONDO:equivalentTo |
Chondrodysplasia punctata, brachytelephalangic type |
|
MONDO:0019701 |
| MONDO:0972174 |
deafness - genital anomalies - metacarpal and metatarsal synostosis |
icd11.foundation:1415932728 |
MONDO:equivalentTo |
Deafness - genital anomalies - metacarpal and metatarsal synostosis |
Deafness - genital anomalies - metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. |
MONDO:0019589 |
| MONDO:0972175 |
syndromes with acanthosis nigricans |
icd11.foundation:1416059396 |
MONDO:equivalentTo |
Syndromes with acanthosis nigricans |
Syndromes in which acanthosis nigricans is an obligate part. |
MONDO:0007035 |
| MONDO:0972176 |
juvenile chronic recurrent multifocal osteomyelitis |
icd11.foundation:1416338288 |
MONDO:equivalentTo |
Juvenile chronic recurrent multifocal osteomyelitis |
|
MONDO:0009813 |
| MONDO:0972177 |
chronic kidney disease, stage 3a |
icd11.foundation:1416760208 |
MONDO:equivalentTo |
Chronic kidney disease, stage 3a |
GFR 45-59 ml/min/1.63m |
MONDO:0005300 |
| MONDO:0972178 |
otitis media in diseases classified elsewhere |
icd11.foundation:1417277991 |
MONDO:equivalentTo |
Otitis media in diseases classified elsewhere |
|
MONDO:0005441 |
| MONDO:0972179 |
epidermolysis bullosa acquisita, brunsting-perry type |
icd11.foundation:1417911502 |
MONDO:equivalentTo |
Epidermolysis bullosa acquisita, Brunsting-Perry type |
The Brunsting-Perry variant of epidermolysis bullosa acquisita is a rare mechanobullous autoimmune skin disease characterised by blistering and scarring of facial or scalp skin and the presence of IgG autoantibodies to the basement membrane anchoring fibril, collagen VII. This distinguishes it from the clinically similar Brunsting-Perry variant of cictricial pemphigoid in which this antibody is not found. |
MONDO:0018747 |
| MONDO:0972180 |
osteonecrosis due to trauma, ankle or foot |
icd11.foundation:1418038637 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, ankle or foot |
|
MONDO:0018375 |
| MONDO:0972181 |
fibrous prostatitis |
icd11.foundation:1418140694 |
MONDO:equivalentTo |
Fibrous prostatitis |
|
MONDO:0022103 |
| MONDO:0972182 |
primary progressive apraxia |
icd11.foundation:1418389822 |
MONDO:equivalentTo |
Primary progressive apraxia |
A rare dementia syndrome characterised by isolated difficulty in performing a motor task, not due to weakness, sensory loss, incoordination, aphasia, or other deficits. It is typically associated with parietal dysfunction. It can progress to and/or be neuropathologically associated with Alzheimer disease, frontotemporal dementia, or corticobasal degeneration. |
MONDO:0018899 |
| MONDO:0972183 |
arthrogryposis - severe scoliosis |
icd11.foundation:1419377474 |
MONDO:equivalentTo |
Arthrogryposis - severe scoliosis |
Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. |
MONDO:0019942 |
| MONDO:0972184 |
congenital cholesteatoma of middle ear |
icd11.foundation:1419592677 |
MONDO:equivalentTo |
Congenital cholesteatoma of middle ear |
|
MONDO:0006533 |
| MONDO:0972185 |
claustrophobia |
icd11.foundation:1419955558 |
MONDO:equivalentTo |
Claustrophobia |
|
MONDO:0012000 |
| MONDO:0972186 |
acute suppurative thyroiditis |
icd11.foundation:1420160451 |
MONDO:equivalentTo |
Acute suppurative thyroiditis |
|
MONDO:0001949 |
| MONDO:0972187 |
marfan syndrome type 1 |
icd11.foundation:1420571785 |
MONDO:equivalentTo |
Marfan syndrome type 1 |
|
MONDO:0007947 |
| MONDO:0972188 |
heparin-induced thrombocytopenia, type 2 |
icd11.foundation:1420710618 |
MONDO:equivalentTo |
Heparin-induced thrombocytopenia, Type 2 |
|
MONDO:0018048 |
| MONDO:0972189 |
osteoporosis, trunk |
icd11.foundation:1420729430 |
MONDO:equivalentTo |
Osteoporosis, trunk |
|
MONDO:0005298 |
| MONDO:0972190 |
immunodeficiencies with isotype or light chain deficiencies with normal number of b cells |
icd11.foundation:14210665 |
MONDO:equivalentTo |
Immunodeficiencies with isotype or light chain deficiencies with normal number of B cells |
|
MONDO:0015132 |
| MONDO:0972191 |
radiculopathy due to intervertebral disc disorders |
icd11.foundation:1421743413 |
MONDO:equivalentTo |
Radiculopathy due to intervertebral disc disorders |
|
MONDO:0002959 |
| MONDO:0972192 |
coloboma of iris, bilateral |
icd11.foundation:14219877 |
MONDO:equivalentTo |
Coloboma of iris, bilateral |
|
MONDO:0020356 |
| MONDO:0972193 |
other endophthalmitis |
icd11.foundation:1422410927 |
MONDO:equivalentTo |
Other endophthalmitis |
This is an inflammation of the internal coats of the eye. It is a possible complication of all intraocular surgeries, particularly cataract surgery, with possible loss of vision and the eye itself. |
MONDO:0016047 |
| MONDO:0972194 |
segmental vitiligo |
icd11.foundation:142337817 |
MONDO:equivalentTo |
Segmental vitiligo |
Segmental vitiligo usually appears during childhood and is confined to a segment or dermatome. |
MONDO:0008661 |
| MONDO:0972195 |
solitary bone cyst, ribs |
icd11.foundation:1423428698 |
MONDO:equivalentTo |
Solitary bone cyst, ribs |
|
MONDO:0019372 |
| MONDO:0972196 |
antenatal bartter syndrome |
icd11.foundation:1424120171 |
MONDO:equivalentTo |
Antenatal Bartter syndrome |
This is a rare inherited defect characterised by polyhydramnios (Increased water in the uterus) due to polyuria in utero. In contrast to Classic Bartter Syndrome and Gitelman Syndrome, the Antenatal variant of Bartter Syndrome has both the features of metabolic alkalosis (from the low potassium), as well as profound systemic manifestations. Out of all of the variants, this form is the most severe. |
MONDO:0015231 |
| MONDO:0972197 |
folliculome lipidique, unspecified site, male |
icd11.foundation:1424128168 |
MONDO:equivalentTo |
Folliculome lipidique, unspecified site, male |
|
MONDO:0021447 |
| MONDO:0972198 |
mitochondrial oxidative phosphorylation disorders due to nuclear dna anomalies |
icd11.foundation:1424131741 |
MONDO:equivalentTo |
Mitochondrial oxidative phosphorylation disorders due to nuclear DNA anomalies |
Mitochondrial disorders of nuclear DNA (nDNA) origin include oxidative phosphorylation (OXPHOS) disorders (such as Leigh syndrome, paraganglioma), defects in nuclear-encoded mitochondrial proteins for mtDNA integrity (progressive external ophthalmoplegia (PEO) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome), and mitochondrial disorders with secondary effects on the OXPHOS system (Friedreich ataxia and hereditary spastic paraplegia). |
MONDO:0016387 |
| MONDO:0972199 |
cocaine dependence, sustained partial remission |
icd11.foundation:1424852267 |
MONDO:equivalentTo |
Cocaine dependence, sustained partial remission |
After a diagnosis of Cocaine dependence, and often following a treatment episode or other intervention (including self-help intervention), there is a significant reduction in cocaine consumption for more than 12 months, such that even though cocaine use has occurred during this period, the definitional requirements for dependence have not been met. |
MONDO:0005186 |
| MONDO:0972200 |
gastritis due to external causes |
icd11.foundation:1426457254 |
MONDO:equivalentTo |
Gastritis due to external causes |
Gastritis caused by external substances, such as alcohol, radiation, chemical agent and by other external causes. |
MONDO:0004966 |
| MONDO:0972201 |
pulmonary infection due to mycobacterium kansasii |
icd11.foundation:1426580201 |
MONDO:equivalentTo |
Pulmonary infection due to Mycobacterium kansasii |
|
MONDO:0018469 |
| MONDO:0972202 |
steroid sensitive nephrotic syndrome |
icd11.foundation:1426920554 |
MONDO:equivalentTo |
Steroid sensitive nephrotic syndrome |
Acute nephrotic syndrome which resolves within 4-6 weeks on treatment with prednisolone or prednisone 1mg/kg/day, maximum 80mg for (adults), 60mg/m/day (children).This response usually indicates minimal change glomerulonephritis as the likely histological diagnosis. |
MONDO:0005377 |
|
|
|
|
|
|
|
|
|
|
|
|
Of children with nephrotic syndrome 80% are steroid responsive, renal biopsy is not usually performed and thus the diagnosis is based on response to therapy, supported by the presence of selective proteinuria. The same approach in adults is not usual without renal biopsy due to the lower frequency of remission and the lack of reliability of selective proteinuria as a diagnostic tool, but is useful in relapsing nephrotic syndrome previously shown to be previously steroid responsive as might occur after childhood nephrotic syndrome. |
|
| MONDO:0972203 |
glycogen storage disease due to acid maltase deficiency |
icd11.foundation:1427054474 |
MONDO:equivalentTo |
Glycogen storage disease due to acid maltase deficiency |
Glycogen storage disease type 2 (GSD II), or Pompe disease, is a lysosomal storage disease which particularly affects the skeletal and respiratory muscles with varying degrees of gravity and which, in the infantile form, is associated with hypertrophic cardiomyopathy. The infantile form of the disease starts before the age of 3 months with major hypotonia, sucking and swallowing difficulties, hypertrophic cardiomyopathy and progressive hepatomegaly. The adult form results in progressive limb-girdle myopathy beginning with the lower limbs, and affects the respiratory system. A large spectrum of intermediate forms exists between these two extremes. |
MONDO:0002412 |
| MONDO:0972204 |
hidradenitis suppurativa affecting other specified sites |
icd11.foundation:1428998853 |
MONDO:equivalentTo |
Hidradenitis suppurativa affecting other specified sites |
Hidradenitis suppurativa involving sites other than the axillae and anogenital region. The most important other sites are the breasts. |
MONDO:0006559 |
| MONDO:0972205 |
palindromic rheumatism, head |
icd11.foundation:1429681612 |
MONDO:equivalentTo |
Palindromic rheumatism, head |
|
MONDO:0001332 |
| MONDO:0972206 |
spastic unilateral cerebral palsy |
icd11.foundation:1429906313 |
MONDO:equivalentTo |
Spastic unilateral cerebral palsy |
Spastic unilateral cerebral palsy is a form of cerebral palsy in which the spasticity is confined to one side; it is often accompanied by cortical sensory impairment and varying degrees of hemineglect, demonstrable by testing stereognosis and graphesthesia. Early hand preference is often the first sign of this disorder, and may be apparent in the first months of life. |
MONDO:0000396 |
| MONDO:0972207 |
spondylolisthesis, lumbar region |
icd11.foundation:1430303597 |
MONDO:equivalentTo |
Spondylolisthesis, lumbar region |
|
MONDO:0008475 |
| MONDO:0972208 |
adenocarcinoma involving overlapping sites of oesophagus |
icd11.foundation:1430917888 |
MONDO:equivalentTo |
Adenocarcinoma involving overlapping sites of oesophagus |
|
MONDO:0005028 |
| MONDO:0972209 |
tuberculous chancre |
icd11.foundation:1431244630 |
MONDO:equivalentTo |
Tuberculous chancre |
A tuberculous chancre arises as a result of inoculation of M. tuberculosis into the skin and/or mucous membranes of individuals without prior exposure to tuberculosis. It presents initially as a painless reddish-brown papule which slowly enlarges before breaking down into a sharply demarcated ulcer. |
MONDO:0021948 |
| MONDO:0972210 |
non-neuropathic heredofamilial amyloidosis |
icd11.foundation:1431377239 |
MONDO:equivalentTo |
Non-neuropathic heredofamilial amyloidosis |
This is an amyloidosis (the formation of insoluble proteins, or amyloids) of inherited origin that does not affect the peripheral nerves. The most common sites of deposits are associated with the kidney and heart. |
MONDO:0018634 |
| MONDO:0972211 |
hypermethioninaemia |
icd11.foundation:1432477510 |
MONDO:equivalentTo |
Hypermethioninaemia |
|
MONDO:0019222 |
| MONDO:0972212 |
rectal duplication cyst |
icd11.foundation:1433046662 |
MONDO:equivalentTo |
Rectal duplication cyst |
|
MONDO:0015734 |
| MONDO:0972213 |
severe inflammatory acne |
icd11.foundation:1434060790 |
MONDO:equivalentTo |
Severe inflammatory acne |
Intensely inflammatory acne which may be acute (acne fulminans) or subacute and chronic (acne conglobata). |
MONDO:0011438 |
| MONDO:0972214 |
eosinophilic duodenitis |
icd11.foundation:1434125131 |
MONDO:equivalentTo |
Eosinophilic duodenitis |
A disease characterised by eosinophilic infiltration of various layers of duodenum in the absence of any known cause of eosinophilia. |
MONDO:0004627 |
| MONDO:0972215 |
myopathy in addison disease |
icd11.foundation:1434177374 |
MONDO:equivalentTo |
Myopathy in Addison disease |
|
MONDO:0100480 |
| MONDO:0972216 |
megacolon, not elsewhere classified |
icd11.foundation:1434326374 |
MONDO:equivalentTo |
Megacolon, not elsewhere classified |
This is an abnormal dilation of the colon (a part of the large intestines), not elsewhere described. |
MONDO:0001273 |
| MONDO:0972217 |
hypertensive heart and renal disease, unspecified |
icd11.foundation:1434352150 |
MONDO:equivalentTo |
Hypertensive heart and renal disease, unspecified |
This includes a number of complications of systemic arterial hypertension or high blood pressure that affect the heart, and also damage to the kidney due to chronic high blood pressure, unspecified. |
MONDO:0001134 |
| MONDO:0972218 |
sarcoidosis of the digestive system |
icd11.foundation:1434414203 |
MONDO:equivalentTo |
Sarcoidosis of the digestive system |
This is a syndrome involving abnormal collections of chronic inflammatory cells (granulomas) that can form as nodules in the digestive system. |
MONDO:0019338 |
| MONDO:0972219 |
congestive heart failure nyha class iv |
icd11.foundation:1435985435 |
MONDO:equivalentTo |
Congestive heart failure NYHA Class IV |
|
MONDO:0005009 |
| MONDO:0972220 |
certain specified chronic obstructive pulmonary disease |
icd11.foundation:143605159 |
MONDO:equivalentTo |
Certain specified chronic obstructive pulmonary disease |
|
MONDO:0005002 |
| MONDO:0972221 |
aneurysmal bone cyst, vertebral column |
icd11.foundation:1436619758 |
MONDO:equivalentTo |
Aneurysmal bone cyst, vertebral column |
|
MONDO:0018815 |
| MONDO:0972222 |
chronic kidney disease, stage 4 |
icd11.foundation:1436694854 |
MONDO:equivalentTo |
Chronic kidney disease, stage 4 |
GFR (15-29 ml/min/1.73m) |
MONDO:0005300 |
| MONDO:0972223 |
sarcoidosis of lymph nodes |
icd11.foundation:1437015591 |
MONDO:equivalentTo |
Sarcoidosis of lymph nodes |
Lymphadenopathy is very common in sarcoidosis. Intrathoracic nodes are enlarged in 75 to 90% of all patients; usually this involves the hilar nodes, but the paratracheal nodes are commonly involved. Peripheral lymphadenopathy is very common, particularly involving the cervical (the most common head and neck manifestation of the disease), axillary, epitrochlear, and inguinal nodes. |
MONDO:0019338 |
| MONDO:0972224 |
escobar syndrome |
icd11.foundation:1437130581 |
MONDO:equivalentTo |
Escobar syndrome |
|
MONDO:0009926 |
| MONDO:0972225 |
polydactyly of toes |
icd11.foundation:1437779804 |
MONDO:equivalentTo |
Polydactyly of toes |
Any condition caused by development of supernumerary toes during the antenatal period. |
MONDO:0011348 |
| MONDO:0972226 |
atherosclerosis - deafness - diabetes - epilepsy - nephropathy |
icd11.foundation:1437964451 |
MONDO:equivalentTo |
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy |
Atherosclerosis- deafness - diabetes - epilepsy - nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. |
MONDO:0019589 |
| MONDO:0972227 |
congenital tracheocele |
icd11.foundation:1438421800 |
MONDO:equivalentTo |
Congenital tracheocele |
|
MONDO:0015505 |
| MONDO:0972228 |
mansonelliasis due to mansonella streptocerca |
icd11.foundation:1440004400 |
MONDO:equivalentTo |
Mansonelliasis due to Mansonella streptocerca |
|
MONDO:0005838 |
| MONDO:0972229 |
gangrenous cholecystitis without calculus |
icd11.foundation:1440269448 |
MONDO:equivalentTo |
Gangrenous cholecystitis without calculus |
|
MONDO:0043994 |
| MONDO:0972230 |
neutrophilic lobular panniculitis |
icd11.foundation:1440453907 |
MONDO:equivalentTo |
Neutrophilic lobular panniculitis |
|
MONDO:0006591 |
| MONDO:0972231 |
progressive external ophthalmoplegia, autosomal recessive |
icd11.foundation:1440469708 |
MONDO:equivalentTo |
Progressive external ophthalmoplegia, autosomal recessive |
Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions is caused by homozygous or compound heterozygous mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG; 174763) on chromosome 15q25, or by homozygous or compound heterozygous mutation in the RNASEH1 gene (604123) on chromosome 2p25. Recessive mutation in the POLG gene can also cause sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO; 607459), which shows overlapping features. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Autosomal recessive inheritance is usually more severe than dominant. |
MONDO:0016797 |
| MONDO:0972232 |
proximal duplications of the short arm of chromosome 2 |
icd11.foundation:144122087 |
MONDO:equivalentTo |
Proximal duplications of the short arm of chromosome 2 |
|
MONDO:0016939 |
| MONDO:0972233 |
phenylketonuria, bh4 deficiency |
icd11.foundation:144125175 |
MONDO:equivalentTo |
Phenylketonuria, BH4 deficiency |
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterised by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional, with BH$ deficiency. |
MONDO:0009861 |
| MONDO:0972234 |
zoophobia |
icd11.foundation:1441255130 |
MONDO:equivalentTo |
Zoophobia |
|
MONDO:0012000 |
| MONDO:0972235 |
cutaneous juvenile xanthogranuloma |
icd11.foundation:1443005663 |
MONDO:equivalentTo |
Cutaneous juvenile xanthogranuloma |
|
MONDO:0015534 |
| MONDO:0972236 |
cataract - deafness - hypogonadism |
icd11.foundation:144313946 |
MONDO:equivalentTo |
Cataract - deafness - hypogonadism |
Cataract - deafness - hypogonadism syndrome is characterised by the association of mild intellectual deficit, congenital cataract, sensorineural deafness, hypogonadism (small testes with sparse pubic hair), hypertrichosis, and short stature. |
MONDO:0019589 |
| MONDO:0972237 |
aneurysmal bone cyst, ankle or foot |
icd11.foundation:144323841 |
MONDO:equivalentTo |
Aneurysmal bone cyst, ankle or foot |
|
MONDO:0018815 |
| MONDO:0972238 |
distal arthrogryposis type 3 |
icd11.foundation:1444357813 |
MONDO:equivalentTo |
Distal arthrogryposis type 3 |
Distal arthrogryposis type 3 (aka Gordon Syndrome) is an extremely rare genetic disorder that is characterised by the combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot or talipes (abnormal bending inward of the foot), and, in 25 % of patients, cleft palate. Intelligence is normal but in some cases, additional abnormalities (for example, scoliosis and cryptorchidism) may also be present. |
MONDO:0019942 |
| MONDO:0972239 |
osteochondrosis of fifth metatarsus |
icd11.foundation:1445677015 |
MONDO:equivalentTo |
Osteochondrosis of fifth metatarsus |
|
MONDO:0018381 |
| MONDO:0972240 |
postpartum telogen effluvium |
icd11.foundation:1446067840 |
MONDO:equivalentTo |
Postpartum telogen effluvium |
A physiological phenomenon in which diffuse hair loss occurs two to three months following parturition. It is due to a postponement of the normal cyclical conversion of anagen hairs to telogen during pregnancy. After parturition a large number of anagen hairs are converted simultaneously to telogen and shed two to three months later. Normal hair cycling is then resumed. |
MONDO:0002153 |
| MONDO:0972241 |
alcohol dependence, sustained full remission |
icd11.foundation:1447256030 |
MONDO:equivalentTo |
Alcohol dependence, sustained full remission |
After a diagnosis of alcohol dependence, and often following a treatment episode or other intervention (including self-intervention), the person has been abstinent from alcohol for 12 months or longer. |
MONDO:0007079 |
| MONDO:0972242 |
distal deletions of the long arm of chromosome 7 |
icd11.foundation:1447648835 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 7 |
|
MONDO:0016906 |
| MONDO:0972243 |
pulmonary infection due to mycobacterium malmoense |
icd11.foundation:1448048545 |
MONDO:equivalentTo |
Pulmonary infection due to Mycobacterium malmoense |
|
MONDO:0018469 |
| MONDO:0972244 |
hordeolum externum lower eyelid |
icd11.foundation:1448362052 |
MONDO:equivalentTo |
Hordeolum externum lower eyelid |
This is an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. External styes form on the outside of the lids and can be seen as small red bumps. Internal styes are infections of the meibomian sebaceous glands lining the inside of the eyelids. They also cause a red bump underneath the lid with only generalised redness and swelling visible on the outside. This diagnosis is of the lower eye. |
MONDO:0001642 |
| MONDO:0972245 |
middle ear abscess |
icd11.foundation:1448530883 |
MONDO:equivalentTo |
Middle ear abscess |
|
MONDO:0005975 |
| MONDO:0972246 |
polycythaemia due to vhl mutation |
icd11.foundation:1449684939 |
MONDO:equivalentTo |
Polycythaemia due to VHL mutation |
This is a disease state in which the proportion of blood volume that is occupied by red blood cells increases. Blood volume proportions can be measured as haematocrit level. It can be due to an increase in the number of red blood cells ("absolute polycythaemia") or to a decrease in the volume of plasma ("relative polycythaemia"). |
MONDO:0007572 |
| MONDO:0972247 |
juvenile systemic arthritis, lower leg |
icd11.foundation:1449691828 |
MONDO:equivalentTo |
Juvenile systemic arthritis, lower leg |
|
MONDO:0019434 |
| MONDO:0972248 |
follicular keratosis due to vitamin a deficiency |
icd11.foundation:1450338595 |
MONDO:equivalentTo |
Follicular keratosis due to vitamin A deficiency |
|
MONDO:0007016 |
| MONDO:0972249 |
gonococcal bursitis, upper arm |
icd11.foundation:1450667151 |
MONDO:equivalentTo |
Gonococcal bursitis, upper arm |
|
MONDO:0001719 |
| MONDO:0972250 |
pseudopolyneuritic form of amyotrophic lateral sclerosis |
icd11.foundation:1451296457 |
MONDO:equivalentTo |
Pseudopolyneuritic form of Amyotrophic lateral sclerosis |
Pseudopolyneuritic form of amyotrophic lateral sclerosis (ALS) is an uncommon variant of ALS presenting with foot drop and weakness of muscles of the anterior compartment. It may be unilateral or bilateral and exists without sensory changes. The disorder mimics a peripheral neuropathy. Multifocal motor neuropathy, distal spinal muscular atrophy, and lumbosacral radiculopathy should be considered in the differential diagnosis. Upper motor neuron signs and bulbar involvement are minimal or absent in the pseudopolyneuritic form of ALS, but may appear in later stage of the disorder. |
MONDO:0020128 |
| MONDO:0972251 |
chronic pansinusitis |
icd11.foundation:1452025934 |
MONDO:equivalentTo |
Chronic pansinusitis |
|
MONDO:0006031 |
| MONDO:0972252 |
beta-aminoisobutyrate-pyruvate transaminase deficiency |
icd11.foundation:1452987512 |
MONDO:equivalentTo |
Beta-aminoisobutyrate-pyruvate transaminase deficiency |
|
MONDO:0019238 |
| MONDO:0972253 |
congenital eyelid retraction, unilateral |
icd11.foundation:1454252357 |
MONDO:equivalentTo |
Congenital eyelid retraction, unilateral |
|
MONDO:0020465 |
| MONDO:0972254 |
mechanical strabismus from local anaesthetic myotoxicity |
icd11.foundation:1454259597 |
MONDO:equivalentTo |
Mechanical strabismus from local anaesthetic myotoxicity |
|
MONDO:0004753 |
| MONDO:0972255 |
tabardillo |
icd11.foundation:1455657334 |
MONDO:equivalentTo |
Tabardillo |
|
MONDO:0001246 |
| MONDO:0972256 |
congenital optic atrophy |
icd11.foundation:1456058300 |
MONDO:equivalentTo |
Congenital optic atrophy |
|
MONDO:0003608 |
| MONDO:0972257 |
congenital glucose-galactose malabsorption |
icd11.foundation:1456521632 |
MONDO:equivalentTo |
Congenital glucose-galactose malabsorption |
|
MONDO:0011731 |
| MONDO:0972258 |
benign neoplasm of pyloric canal |
icd11.foundation:1456784217 |
MONDO:equivalentTo |
Benign neoplasm of pyloric canal |
|
MONDO:0021449 |
| MONDO:0972259 |
microtia type 3 |
icd11.foundation:1456880076 |
MONDO:equivalentTo |
Microtia Type 3 |
|
MONDO:0010920 |
| MONDO:0972260 |
gastritis of unknown aetiology with specific endoscopic or pathological features |
icd11.foundation:1457092071 |
MONDO:equivalentTo |
Gastritis of unknown aetiology with specific endoscopic or pathological features |
|
MONDO:0004966 |
| MONDO:0972261 |
trichinosis due to trichinella papuae |
icd11.foundation:1457916326 |
MONDO:equivalentTo |
Trichinosis due to Trichinella papuae |
|
MONDO:0019444 |
| MONDO:0972262 |
oculo-auriculo-vertebral spectrum with radial defects |
icd11.foundation:145809034 |
MONDO:equivalentTo |
Oculo-auriculo-vertebral spectrum with radial defects |
|
MONDO:0015482 |
| MONDO:0972263 |
endotheliomatous meningioma of unspecified site |
icd11.foundation:1458234067 |
MONDO:equivalentTo |
Endotheliomatous meningioma of unspecified site |
|
MONDO:0016642 |
| MONDO:0972264 |
medial duplications of the long arm of chromosome 1 |
icd11.foundation:145893500 |
MONDO:equivalentTo |
Medial duplications of the long arm of chromosome 1 |
|
MONDO:0016952 |
| MONDO:0972265 |
acute intoxication due to fentanyl |
icd11.foundation:1459534679 |
MONDO:equivalentTo |
Acute intoxication due to fentanyl |
|
MONDO:0018173 |
| MONDO:0972266 |
noninfectious cystitis |
icd11.foundation:146013594 |
MONDO:equivalentTo |
Noninfectious cystitis |
A condition of the bladder, caused by radiation induced, chemical, autoimmune, or hypersensitivity irritation. This condition is characterised by non-infectious inflammation of the urinary bladder, urgency and frequency of urination, dysuria, haematuria, nocturia, or lower pelvic pain. |
MONDO:0006032 |
| MONDO:0972267 |
deficiency of tryptophan 2,3-dioxygenase |
icd11.foundation:1460403646 |
MONDO:equivalentTo |
Deficiency of tryptophan 2,3-dioxygenase |
|
MONDO:0019216 |
| MONDO:0972268 |
deletions of chromosome 18 |
icd11.foundation:1460660624 |
MONDO:equivalentTo |
Deletions of chromosome 18 |
|
MONDO:0020054 |
| MONDO:0972269 |
infectious cystitis |
icd11.foundation:1460844182 |
MONDO:equivalentTo |
Infectious cystitis |
Inflammation of the urinary bladder caused by microbes |
MONDO:0006032 |
| MONDO:0972270 |
non-allergic asthma |
icd11.foundation:1461326813 |
MONDO:equivalentTo |
Non-allergic asthma |
Non-allergic asthma occurs in some patients who have asthma that is not associated with allergy. The cellular profile of the sputum of these patients may be neutrophilic, eosinophilic or contain only a few inflammatory cells (paucigranulocytic). Patients with non-allergic asthma often respond less well to inhaled corticosteroids. It can cover different phenotypes. |
MONDO:0004979 |
| MONDO:0972271 |
isolated diastolic hypertension |
icd11.foundation:1461918574 |
MONDO:equivalentTo |
Isolated diastolic hypertension |
|
MONDO:0001134 |
| MONDO:0972272 |
monostotic fibrous dysplasia, multiple sites |
icd11.foundation:1462384471 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, multiple sites |
|
MONDO:0019665 |
| MONDO:0972273 |
choroidal atrophy - alopecia |
icd11.foundation:1462521559 |
MONDO:equivalentTo |
Choroidal atrophy - alopecia |
Choroidal atrophy - alopecia syndrome is the association of choroidal atrophy and other manifestations of ectodermal dysplasia, including fine and sparse hair. |
MONDO:0019287 |
| MONDO:0972274 |
complete agenesis of pericardium |
icd11.foundation:1462683633 |
MONDO:equivalentTo |
Complete agenesis of pericardium |
A congenital cardiac malformation in which the fibroserous pericardium is completely absent. |
MONDO:0017300 |
| MONDO:0972275 |
autoimmune hepatitis type 2 without cirrhosis |
icd11.foundation:1462820829 |
MONDO:equivalentTo |
Autoimmune hepatitis type 2 without cirrhosis |
Autoimmune hepatitis type 2 without cirrhosis is autoimmune hepatitis type 2not complicated with liver cirrhosis. |
MONDO:0021176 |
| MONDO:0972276 |
subtotal septate uterus |
icd11.foundation:1463087262 |
MONDO:equivalentTo |
Subtotal septate uterus |
This is a form of a congenital malformation (due to an incomplete reabsorption of the midline longitudinal septum) where the uterine cavity is partitioned by the longitudinal septum that involve only the superior part of the cavity, resulting in an incomplete partitioning. |
MONDO:0015839 |
| MONDO:0972277 |
corneal dystrophy, groenouw type |
icd11.foundation:146332110 |
MONDO:equivalentTo |
Corneal dystrophy, Groenouw type |
Type 1 granular corneal dystrophy (GCD1) is a rare form of stromal corneal dystrophy characterised by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe. |
MONDO:0020213 |
| MONDO:0972278 |
benign neoplasm of hypophysis |
icd11.foundation:1463522165 |
MONDO:equivalentTo |
Benign neoplasm of hypophysis |
|
MONDO:0021439 |
| MONDO:0972279 |
intermittent hydrarthrosis, hand |
icd11.foundation:1463838470 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, hand |
|
MONDO:0018015 |
| MONDO:0972280 |
symptomatic form of haemophilia b in female carriers |
icd11.foundation:1463993018 |
MONDO:equivalentTo |
Symptomatic form of haemophilia B in female carriers |
Symptomatic haemophilia B in female carriers is a form of haemophilia B that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX. Symptoms include abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Spontaneous haemorrhages may occur occasionally. Transmission is X-linked recessive. |
MONDO:0010604 |
| MONDO:0972281 |
aural myiasis |
icd11.foundation:1464104762 |
MONDO:equivalentTo |
Aural myiasis |
|
MONDO:0019147 |
| MONDO:0972282 |
partial cryptophthalmia, unilateral |
icd11.foundation:1464462315 |
MONDO:equivalentTo |
Partial cryptophthalmia, unilateral |
|
MONDO:0020361 |
| MONDO:0972283 |
cyst of parotid gland |
icd11.foundation:1464603277 |
MONDO:equivalentTo |
Cyst of parotid gland |
|
MONDO:0001600 |
| MONDO:0972284 |
abscess of kidney with calculus and hydronephrosis |
icd11.foundation:1464773671 |
MONDO:equivalentTo |
Abscess of kidney with calculus and hydronephrosis |
|
MONDO:0021750 |
| MONDO:0972285 |
giant keratoacanthoma |
icd11.foundation:1464954992 |
MONDO:equivalentTo |
Giant keratoacanthoma |
|
MONDO:0002527 |
| MONDO:0972286 |
membranous bronchitis |
icd11.foundation:1464961940 |
MONDO:equivalentTo |
Membranous bronchitis |
|
MONDO:0003781 |
| MONDO:0972287 |
excess vitamin a administered as drug |
icd11.foundation:1466011645 |
MONDO:equivalentTo |
Excess vitamin A administered as drug |
|
MONDO:0006798 |
| MONDO:0972288 |
benign neoplasm of lateral border of tongue |
icd11.foundation:1467981084 |
MONDO:equivalentTo |
Benign neoplasm of lateral border of tongue |
|
MONDO:0021476 |
| MONDO:0972289 |
shigellosis due to shigella boydii |
icd11.foundation:1468025508 |
MONDO:equivalentTo |
Shigellosis due to Shigella boydii |
A condition caused by an infection with the gram-negative bacteria Shigella boydii. This condition is characterised by diarrhoea, fever, or stomach cramps. Transmission is commonly by the faecal-oral route, possibly by ingestion of contaminated foods or direct contact. Confirmation is by identification of Shigella boydii in a faecal sample. |
MONDO:0019345 |
| MONDO:0972290 |
pulp polyp |
icd11.foundation:1468757965 |
MONDO:equivalentTo |
Pulp polyp |
|
MONDO:0006937 |
| MONDO:0972291 |
dementia due to diseases classified elsewhere |
icd11.foundation:1468768235 |
MONDO:equivalentTo |
Dementia due to diseases classified elsewhere |
|
MONDO:0001627 |
| MONDO:0972292 |
cornea plana, bilateral |
icd11.foundation:1468871926 |
MONDO:equivalentTo |
Cornea plana, bilateral |
|
MONDO:0000733 |
| MONDO:0972293 |
congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
icd11.foundation:1469259578 |
MONDO:equivalentTo |
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 21-hydroxylase deficiency. |
MONDO:0018479 |
| MONDO:0972294 |
chronic viral hepatitis |
icd11.foundation:1469571641 |
MONDO:equivalentTo |
Chronic viral hepatitis |
A disease of the liver, caused by a chronic infection with a hepatotropic virus such as hepatitis B, C, D virus, with or without HIV (for six months or longer). This disease is characterised by fatigue, joint and muscle pain, jaundice, or urine of dark yellow colour. Transmission is by sexual contact, or direct contact with contaminated blood or body fluids. Confirmation is by detection of anti-hepatitis antibodies in the individuals serum. |
MONDO:0006011 |
| MONDO:0972295 |
radiculopathy, multiple sites in spine |
icd11.foundation:1469669922 |
MONDO:equivalentTo |
Radiculopathy, multiple sites in spine |
|
MONDO:0002959 |
| MONDO:0972296 |
benign neoplasm of tip of tongue |
icd11.foundation:1469736332 |
MONDO:equivalentTo |
Benign neoplasm of tip of tongue |
|
MONDO:0021476 |
| MONDO:0972297 |
lymphomatous meningitis |
icd11.foundation:1470687525 |
MONDO:equivalentTo |
Lymphomatous meningitis |
Inflammation of the meninges due to infiltration by lymphoma. The syndrome is clinically characterised by headache, neck stiffness, fever and photophobia with potential progression to stupor and coma. The presentation may be acute, subacute or chronic. Diagnosis may be aided by neuroimaging and spinal fluid analysis which may reveal a lymphocytic pleocytosis, raised protein and the presence of malignant cells on cytology. |
MONDO:0700219 |
| MONDO:0972298 |
episodic ataxia type 2 - cacna1a mutation |
icd11.foundation:1470995662 |
MONDO:equivalentTo |
Episodic ataxia type 2 - CACNA1A mutation |
Familial paroxysmal ataxia is a form of cerebellar ataxia characterised by episodes of acute ataxia, dizziness and nausea, with a duration ranging from a few minutes to several hours. The episodes may be accompanied by dysarthria, diplopia, dystonia or hemiplegia. |
MONDO:0016227 |
| MONDO:0972299 |
meckel diverticulum with complication |
icd11.foundation:1471559167 |
MONDO:equivalentTo |
Meckel diverticulum with complication |
A congenital abnormality characterised by the outpouching or sac formation in the ileum as a remnant of the embryonic yolk sac, with complication, such as haemorrhage, perforation, stenosis, fistula, malignant transformation or multiple complications. |
MONDO:0007955 |
| MONDO:0972300 |
median facial cleft |
icd11.foundation:1471659571 |
MONDO:equivalentTo |
Median facial cleft |
A condition caused by failure of the structures of the face to correctly develop during the antenatal period. This condition is characterised by a malformation of the midface. This condition may present with a skin-covered gap in the bones of the forehead, hypertelorism, median cleft lip or median cleft nose. |
MONDO:0015411 |
| MONDO:0972301 |
benign neoplasm of junctional zone of tongue |
icd11.foundation:147196685 |
MONDO:equivalentTo |
Benign neoplasm of junctional zone of tongue |
|
MONDO:0021476 |
| MONDO:0972302 |
klinefelter syndrome with karyotype 47,xxy, regular |
icd11.foundation:1472503127 |
MONDO:equivalentTo |
Klinefelter syndrome with karyotype 47,XXY, regular |
Karyotype 47 XXY; gonads: testes (hypogonadism) small and firm with decreased spermatogenesis ; phenotype male with associated congenital abnormalities (decreased virilization due to decreased testosterone production, long arms and legs, short trunk, psychosocial problems). |
MONDO:0006823 |
| MONDO:0972303 |
coronary cataract |
icd11.foundation:1473016375 |
MONDO:equivalentTo |
Coronary cataract |
|
MONDO:0011060 |
| MONDO:0972304 |
squamous cell carcinoma of mucocutaneous epithelium of penis |
icd11.foundation:1474982646 |
MONDO:equivalentTo |
Squamous cell carcinoma of mucocutaneous epithelium of penis |
|
MONDO:0018352 |
| MONDO:0972305 |
deficiency of tryptophan oxygenase |
icd11.foundation:1475216686 |
MONDO:equivalentTo |
Deficiency of tryptophan oxygenase |
|
MONDO:0019216 |
| MONDO:0972306 |
acute myeloid leukaemia (megakaryoblastic) with t(1;22)(p13;q13); rbm15-mkl1 |
icd11.foundation:1475690810 |
MONDO:equivalentTo |
Acute myeloid leukaemia (megakaryoblastic) with t(1;22)(p13;q13); RBM15-MKL1 |
An acute myeloid leukaemia associated with t(1;22)(p13;q13) resulting in the expression of RBM15-MKL1 fusion protein. It affects infants and children and usually shows megakaryocytic maturation. |
MONDO:0020078 |
| MONDO:0972307 |
distal deletions of the long arm of chromosome 16 |
icd11.foundation:1475945333 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 16 |
|
MONDO:0016914 |
| MONDO:0972308 |
cobra spit ophthalmia |
icd11.foundation:147658612 |
MONDO:equivalentTo |
Cobra spit ophthalmia |
|
MONDO:0003799 |
| MONDO:0972309 |
autism spectrum disorder with disorder of intellectual development and with impaired functional language |
icd11.foundation:1477082111 |
MONDO:equivalentTo |
Autism spectrum disorder with disorder of intellectual development and with impaired functional language |
All definitional requirements for both autism spectrum disorder and disorder of intellectual development are met and there is marked impairment in functional language (spoken or signed) relative to the individuals age, with the individual not able to use more than single words or simple phrases for instrumental purposes, such as to express personal needs and desires. |
MONDO:0005258 |
| MONDO:0972310 |
klippel-trnaunay syndrome |
icd11.foundation:1477539224 |
MONDO:equivalentTo |
Klippel-Trnaunay syndrome |
Klippel-Trenaunay syndrome (KTS) (OMIM 149000) is characterised by limb hypertrophy, capillary malformations and slow flow vascular malformations of the affected limb. It differs from Parkes-Weber syndrome in which limb hypertrophy and capillary malformations are associated with fast flow arteriovenous malformations and, in some cases, with mutations in the RASA1 gene . |
MONDO:0007864 |
| MONDO:0972311 |
solitary bone cyst, forearm |
icd11.foundation:1478278771 |
MONDO:equivalentTo |
Solitary bone cyst, forearm |
|
MONDO:0019372 |
| MONDO:0972312 |
flaccid hemiplegia |
icd11.foundation:1478817379 |
MONDO:equivalentTo |
Flaccid hemiplegia |
This is a severe or complete loss of motor function on one side of the body with limp and relaxed muscles. |
MONDO:0001170 |
| MONDO:0972313 |
primary malignant meningioma |
icd11.foundation:1478862889 |
MONDO:equivalentTo |
Primary malignant meningioma |
|
MONDO:0016642 |
| MONDO:0972314 |
ethmoid suppuration |
icd11.foundation:1479094331 |
MONDO:equivalentTo |
Ethmoid suppuration |
|
MONDO:0004757 |
| MONDO:0972315 |
intraductal papillary mucinous neoplasm of pancreas |
icd11.foundation:1479196701 |
MONDO:equivalentTo |
Intraductal papillary mucinous neoplasm of pancreas |
This is a type of tumour (neoplasm) that grows within the pancreatic ducts (intraductal) and is characterised by the production of thick fluid by the tumour cells (mucinous). |
MONDO:0021470 |
| MONDO:0972316 |
dihydroorotate dehydrogenase deficiency |
icd11.foundation:1479920627 |
MONDO:equivalentTo |
Dihydroorotate dehydrogenase deficiency |
|
MONDO:0019238 |
| MONDO:0972317 |
hearing loss - familial salivary gland insensitivity to aldosterone |
icd11.foundation:1480894796 |
MONDO:equivalentTo |
Hearing loss - familial salivary gland insensitivity to aldosterone |
Hearing loss - familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. |
MONDO:0019589 |
| MONDO:0972318 |
moderate simultanagnosia |
icd11.foundation:1481120317 |
MONDO:equivalentTo |
Moderate Simultanagnosia |
|
MONDO:0000678 |
| MONDO:0972319 |
mycosis fungoides, erythrodermic |
icd11.foundation:1481702837 |
MONDO:equivalentTo |
Mycosis fungoides, erythrodermic |
Mycosis fungoides with confluent erythema affecting more than 80% of body surface. |
MONDO:0009691 |
| MONDO:0972320 |
secondary hypertension associated with endocrine disorders |
icd11.foundation:148182526 |
MONDO:equivalentTo |
Secondary hypertension associated with endocrine disorders |
Hypertension secondary to endocrine disorders is caused by Pheochromocytoma, Hyperaldosteronism (Conn's syndrome), Cushing's syndrome, Hyperparathyroidism, Acromegaly, Hyperthyroidism, Hypothyroidism |
MONDO:0001200 |
| MONDO:0972321 |
behavioural or psychological disturbances in dementia |
icd11.foundation:148241182 |
MONDO:equivalentTo |
Behavioural or psychological disturbances in dementia |
In addition to the cognitive disturbances characteristic of dementia, the current clinical picture includes clinically significant behavioural or psychological disturbances. |
MONDO:0001627 |
| MONDO:0972322 |
paralytic lagophthalmos upper eyelid |
icd11.foundation:1484268934 |
MONDO:equivalentTo |
Paralytic lagophthalmos upper eyelid |
|
MONDO:0001603 |
| MONDO:0972323 |
palindromic rheumatism, forearm |
icd11.foundation:1485114012 |
MONDO:equivalentTo |
Palindromic rheumatism, forearm |
|
MONDO:0001332 |
| MONDO:0972324 |
deletions of chromosome 5 |
icd11.foundation:148643207 |
MONDO:equivalentTo |
Deletions of chromosome 5 |
|
MONDO:0020054 |
| MONDO:0972325 |
permanent atrial fibrillation |
icd11.foundation:1486511938 |
MONDO:equivalentTo |
Permanent atrial fibrillation |
A term used to identify individuals with persistent AF where a decision has been made to no longer pursue a rhythm control strategy, or where cardioversion has either failed or not been attempted. |
MONDO:0004981 |
| MONDO:0972326 |
invasive aspergillosis of the lower respiratory tract |
icd11.foundation:148671536 |
MONDO:equivalentTo |
Invasive aspergillosis of the lower respiratory tract |
|
MONDO:0000240 |
| MONDO:0972327 |
lucio type diffuse lepromatous leprosy |
icd11.foundation:1487561185 |
MONDO:equivalentTo |
Lucio type diffuse lepromatous leprosy |
Diffuse lepromatous leprosy (Lucio-Latapi leprosy) is a special form of lepromatous leprosy found only in Central America, where it is the predominant type. It is distinguished by widespread, diffuse infiltration of the skin by leprosy bacilli without formation of nodules or plaques. This may produce a full "baby-face" appearance and loss of eyebrows. Patients are predisposed to a fulminant type II leprosy reaction which can result in widespread cutaneous infarction (Lucio phenomenon) [Dermatology TAG]. |
MONDO:0041751 |
| MONDO:0972328 |
fungal endocarditis |
icd11.foundation:1487619220 |
MONDO:equivalentTo |
Fungal endocarditis |
|
MONDO:0000565 |
| MONDO:0972329 |
hyperplastic endometritis of cervix |
icd11.foundation:1487908008 |
MONDO:equivalentTo |
Hyperplastic endometritis of cervix |
|
MONDO:0002345 |
| MONDO:0972330 |
multiple epiphyseal dysplasia with severe proximal femoral dysplasia |
icd11.foundation:1488207821 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia |
|
MONDO:0016648 |
| MONDO:0972331 |
congenital dyserythropoietic anaemia type i |
icd11.foundation:148842514 |
MONDO:equivalentTo |
Congenital dyserythropoietic anaemia type I |
This is a congenital disorder of blood cell production, particularly of the production of erythroblasts, which are the precursors of the red blood cells (RBCs). |
MONDO:0019403 |
| MONDO:0972332 |
carnitine palmitoyltransferase ii deficiency, severe infantile form |
icd11.foundation:1488785910 |
MONDO:equivalentTo |
Carnitine palmitoyltransferase II deficiency, severe infantile form |
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. Presentation can be in the newborn period but most cases have an age of onset between 6 and 24 months. The disease is characterised by a severe fasting intolerance leading to metabolic derangements of hypoketotic hypoglycaemia, resulting in coma and seizures, and hepatic encephalopathy leading to liver failure. There is associated skeletal muscle myopathy and cardiomyopathy which can lead to fatal paroxysmal cardiac arrhythmias. |
MONDO:0015515 |
| MONDO:0972333 |
2-ketoadipic aciduria |
icd11.foundation:1489209209 |
MONDO:equivalentTo |
2-ketoadipic aciduria |
|
MONDO:0017351 |
| MONDO:0972334 |
classic bartter syndrome |
icd11.foundation:1489214231 |
MONDO:equivalentTo |
Classic Bartter syndrome |
This is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterised by low potassium levels (hypokalaemia), increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than both subtypes of Bartter syndrome. |
MONDO:0015231 |
| MONDO:0972335 |
hydroureter with infection |
icd11.foundation:1489849469 |
MONDO:equivalentTo |
Hydroureter with infection |
|
MONDO:0021750 |
| MONDO:0972336 |
benign neoplasm of skin of scrotum |
icd11.foundation:1490198559 |
MONDO:equivalentTo |
Benign neoplasm of skin of scrotum |
|
MONDO:0021472 |
| MONDO:0972337 |
paranoid dementia |
icd11.foundation:1490923241 |
MONDO:equivalentTo |
Paranoid dementia |
|
MONDO:0001627 |
| MONDO:0972338 |
spastic paraparesis - deafness |
icd11.foundation:1491138806 |
MONDO:equivalentTo |
Spastic paraparesis - deafness |
Spastic paraparesis - deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits. |
MONDO:0019589 |
| MONDO:0972339 |
inlet ventricular septal defect without a common atrioventricular junction |
icd11.foundation:1491280288 |
MONDO:equivalentTo |
Inlet ventricular septal defect without a common atrioventricular junction |
A congenital cardiac malformation in which there is a ventricular septal defect that opens predominantly into the inlet component of the right ventricle in the absence of a common atrioventricular junction. |
MONDO:0002070 |
| MONDO:0972340 |
persistent pneumothorax |
icd11.foundation:1491306667 |
MONDO:equivalentTo |
Persistent pneumothorax |
|
MONDO:0002076 |
| MONDO:0972341 |
acute intoxication by the combined effects of fentanyl and heroin |
icd11.foundation:1491484121 |
MONDO:equivalentTo |
Acute intoxication by the combined effects of fentanyl and heroin |
|
MONDO:0018173 |
| MONDO:0972342 |
proximal deletions of the short arm of chromosome 6 |
icd11.foundation:1491485130 |
MONDO:equivalentTo |
Proximal deletions of the short arm of chromosome 6 |
|
MONDO:0016888 |
| MONDO:0972343 |
frostbite involving multiple body regions |
icd11.foundation:1491600923 |
MONDO:equivalentTo |
Frostbite involving multiple body regions |
Frostbite is damage to tissues as the result of exposure to low environmental temperatures. |
MONDO:0800177 |
| MONDO:0972344 |
moderately severe haemophilia a |
icd11.foundation:1491982251 |
MONDO:equivalentTo |
Moderately severe haemophilia A |
Moderately severe haemophilia A is a form of haemophilia A (see this term) characterised by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Moderately severe haemophilia A accounts for around 20% of all cases of haemophilia A. The biological activity of factor VIII is between 1% and 5%. Spontaneous haemorrhages are rare. Transmission is X-linked recessive and the disorder is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII. |
MONDO:0010602 |
| MONDO:0972345 |
pyogenic thyroiditis |
icd11.foundation:1493057396 |
MONDO:equivalentTo |
Pyogenic thyroiditis |
|
MONDO:0001949 |
| MONDO:0972346 |
allergic rhinitis due to house dust mite |
icd11.foundation:14936621 |
MONDO:equivalentTo |
Allergic rhinitis due to house dust mite |
Allergic rhinitis triggered by the exposure to house dust mite allergens to which the affected individual has previously been sensitized. |
MONDO:0011786 |
| MONDO:0972347 |
acute portosystemic encephalopathy |
icd11.foundation:1494383275 |
MONDO:equivalentTo |
Acute portosystemic encephalopathy |
|
MONDO:0001711 |
| MONDO:0972348 |
deafness - vitiligo - achalasia |
icd11.foundation:1494422602 |
MONDO:equivalentTo |
Deafness - vitiligo - achalasia |
Deafness - vitiligo - achalasia syndrome is characterised by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. |
MONDO:0019589 |
| MONDO:0972349 |
osteoporosis, pelvic region or thigh |
icd11.foundation:1494492334 |
MONDO:equivalentTo |
Osteoporosis, pelvic region or thigh |
|
MONDO:0005298 |
| MONDO:0972350 |
radiculopathy, sacral or sacrococcygeal region |
icd11.foundation:1495196920 |
MONDO:equivalentTo |
Radiculopathy, sacral or sacrococcygeal region |
|
MONDO:0002959 |
| MONDO:0972351 |
squamous cell carcinoma of anterior surface of epiglottis |
icd11.foundation:1495730320 |
MONDO:equivalentTo |
Squamous cell carcinoma of anterior surface of epiglottis |
|
MONDO:0044704 |
| MONDO:0972352 |
xeroderma pigmentosum c |
icd11.foundation:149585699 |
MONDO:equivalentTo |
Xeroderma pigmentosum C |
Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers). XPC patients demonstrate typical XP manifestations of the skin (progressive freckling and dryness of skin, skin cancer, ocular malignancies) but generally do not display any acute sunburn reactions. In addition XPC patients do not have any neurological abnormalities. |
MONDO:0019600 |
| MONDO:0972353 |
distal deletions of the short arm of chromosome 8 |
icd11.foundation:1496587928 |
MONDO:equivalentTo |
Distal deletions of the short arm of chromosome 8 |
|
MONDO:0016890 |
| MONDO:0972354 |
trichomegaly - cataract - hereditary spherocytosis |
icd11.foundation:1497377667 |
MONDO:equivalentTo |
Trichomegaly - cataract - hereditary spherocytosis |
|
MONDO:0019287 |
| MONDO:0972355 |
senile reticular degeneration of retina |
icd11.foundation:1499569117 |
MONDO:equivalentTo |
Senile reticular degeneration of retina |
|
MONDO:0001451 |
| MONDO:0972356 |
kaschin-beck disease, forearm |
icd11.foundation:149972306 |
MONDO:equivalentTo |
Kaschin-Beck disease, forearm |
|
MONDO:0005610 |
| MONDO:0972357 |
brown-vialetto-van laere syndrome |
icd11.foundation:1499927268 |
MONDO:equivalentTo |
Brown-Vialetto-van Laere syndrome |
Brown-Vialetto-Van Laere syndrome is a rare neurological disorder characterised by progressive pontobulbar palsy associated with sensorineural deafness. |
MONDO:0020128 |
| MONDO:0972358 |
hypothalamic dysfunction, not elsewhere classified |
icd11.foundation:1499946109 |
MONDO:equivalentTo |
Hypothalamic dysfunction, not elsewhere classified |
Pituitary dysregulation/disorders secondary to hypothalamic dysfunction not detailed elsewhere. |
MONDO:0015127 |
| MONDO:0972359 |
fazio-londe syndrome |
icd11.foundation:1500390195 |
MONDO:equivalentTo |
Fazio-Londe syndrome |
Fazio-Londe syndrome is an inherited disorder characterised by childhood onset of bulbar, facial and respiratory weakness with limb hyperreflexia. Fazio-Londe syndrome shares a similar clinical phenotype with Brown-Vialetto-Van Leare syndrome, except there is no hearing loss. Fazio-Londe syndrome is recessively inherited, a result of homozygous or compound heterozygous mutations in the SLC52A3 gene. Patients may respond to therapy with riboflavin. |
MONDO:0020128 |
|
|
|
|
|
|
|
|
|
|
|
|
NEW: Progressive bulbar paralysis of childhood (Fazio-Londe syndrome) is characterised by progressive bilateral facial paralysis with various other manifestations: ptosis, dysphagia, dysrhythmia, dyspnoea and frequent respiratory infections. It may become generalised, leading to paralysis, amyotrophy and abnormally sharp osteotendinous reflexes. The course is severe in cases of respiratory insufficiency. It is caused by neuronal loss in the motor nuclei of the cranial nerves, at the level of the spinal bulb. Degeneration of the anterior horn cells of the spinal cord has also been reported. The mode of transmission is autosomal recessive. |
|
| MONDO:0972360 |
dicephalus |
icd11.foundation:1500659375 |
MONDO:equivalentTo |
Dicephalus |
A condition characterised as conjoined twins in which there are two heads present on a single trunk. |
MONDO:0958083 |
| MONDO:0972361 |
hyperbilirubinaemia, not elsewhere classified |
icd11.foundation:1500742669 |
MONDO:equivalentTo |
Hyperbilirubinaemia, not elsewhere classified |
|
MONDO:0017755 |
| MONDO:0972362 |
pancreatic enzyme panniculitis |
icd11.foundation:1500880103 |
MONDO:equivalentTo |
Pancreatic enzyme panniculitis |
|
MONDO:0006591 |
| MONDO:0972363 |
noninfectious panuveitis |
icd11.foundation:1501104058 |
MONDO:equivalentTo |
Noninfectious panuveitis |
|
MONDO:0017255 |
| MONDO:0972364 |
nipple abscess |
icd11.foundation:1501150097 |
MONDO:equivalentTo |
Nipple abscess |
|
MONDO:0000749 |
| MONDO:0972365 |
carcinoma in situ, intraepithelium of appendix |
icd11.foundation:1501221792 |
MONDO:equivalentTo |
Carcinoma in situ, intraepithelium of appendix |
|
MONDO:0021290 |
| MONDO:0972366 |
thymoma type ab of thymus |
icd11.foundation:1501313181 |
MONDO:equivalentTo |
Thymoma type AB of thymus |
Thymoma originates from the epithelial cell population in the thymus, and several microscopic subtypes are now recognised. It will be Type AB if the tumour contains a combination of both cell types. |
MONDO:0006456 |
| MONDO:0972367 |
long qt syndrome type 8 |
icd11.foundation:1501560837 |
MONDO:equivalentTo |
Long QT syndrome type 8 |
Timothy syndrome is a multisystem disorder sometimes referred as to Long QT syndrome type 8 (LQTS8), characterised by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. |
MONDO:0019171 |
| MONDO:0972368 |
muscle abscess |
icd11.foundation:1502182006 |
MONDO:equivalentTo |
Muscle abscess |
|
MONDO:0023483 |
| MONDO:0972369 |
descending aortic thoracic aneurysm |
icd11.foundation:15023825 |
MONDO:equivalentTo |
Descending aortic thoracic aneurysm |
|
MONDO:0005396 |
| MONDO:0972370 |
primary biliary cholangitis with overlap syndrome |
icd11.foundation:1502437359 |
MONDO:equivalentTo |
Primary biliary cholangitis with overlap syndrome |
|
MONDO:0005388 |
| MONDO:0972371 |
geotrichum stomatitis |
icd11.foundation:1502766870 |
MONDO:equivalentTo |
Geotrichum stomatitis |
|
MONDO:0005772 |
| MONDO:0972372 |
drug-induced osteoporosis, vertebral column |
icd11.foundation:1502974560 |
MONDO:equivalentTo |
Drug-induced osteoporosis, vertebral column |
|
MONDO:0024650 |
| MONDO:0972373 |
calculus of submandibular duct |
icd11.foundation:150307998 |
MONDO:equivalentTo |
Calculus of submandibular duct |
|
MONDO:0006970 |
| MONDO:0972374 |
flaccid paraplegia |
icd11.foundation:1503876701 |
MONDO:equivalentTo |
Flaccid paraplegia |
This is a severe or complete loss of motor function in the lower extremities and lower portions of the trunk with limp and relaxed muscles. |
MONDO:0003757 |
| MONDO:0972375 |
dysentery due to balantidium coli |
icd11.foundation:1504147892 |
MONDO:equivalentTo |
Dysentery due to Balantidium coli |
This is an inflammatory disorder of the intestine, especially of the colon, that results in severe diarrhoea containing mucus and/or blood in the faeces with fever, abdominal pain, and rectal tenesmus (a feeling of incomplete defecation), caused by any kind of infection. This diagnosis is due to a parasitic species of ciliate protozoan that causes the disease Balantidiasis. |
MONDO:0005662 |
| MONDO:0972376 |
scedosporium aurantiacum infection |
icd11.foundation:1506815992 |
MONDO:equivalentTo |
Scedosporium aurantiacum infection |
|
MONDO:0018668 |
| MONDO:0972377 |
other specified intracranial artery aneurysm |
icd11.foundation:1507206909 |
MONDO:equivalentTo |
Other specified intracranial artery aneurysm |
|
MONDO:0019543 |
| MONDO:0972378 |
normal-pressure hydrocephalus |
icd11.foundation:1507346489 |
MONDO:equivalentTo |
Normal-pressure hydrocephalus |
A clinical syndrome mainly comprising gait disturbance, dementia, and urinary incontinence, and associated with dilatation of the ventricular system of the brain. Most of the times demonstrating normal cerebrospinal fluid (CSF) pressure at lumbar puncture. |
MONDO:0002045 |
| MONDO:0972379 |
kashin-beck disease, neck |
icd11.foundation:150736490 |
MONDO:equivalentTo |
Kashin-Beck disease, neck |
|
MONDO:0005610 |
| MONDO:0972380 |
hydroureteronephrosis infection |
icd11.foundation:1507510815 |
MONDO:equivalentTo |
Hydroureteronephrosis infection |
|
MONDO:0021750 |
| MONDO:0972381 |
pyocele of turbinate |
icd11.foundation:1507927553 |
MONDO:equivalentTo |
Pyocele of turbinate |
|
MONDO:0006031 |
| MONDO:0972382 |
lissencephaly type 2 |
icd11.foundation:1508227584 |
MONDO:equivalentTo |
Lissencephaly type 2 |
Lissencephaly type 2, also called cobblestone lissencephaly or cobblestone dysplasia is a type of lissencephaly characterised by a bumpy or granular aspect of the brain surface, associated with shallow sulci (hence the aspect of a lissencephaly), abnormal myelination of the white matter, which may have a cystic appearance in proximity to the cortex, enlarged ventricles, brainstem hypoplasia, cerebellar especially vermis hypoplasia. |
MONDO:0015147 |
| MONDO:0972383 |
torsade de pointes |
icd11.foundation:1509293070 |
MONDO:equivalentTo |
Torsade de pointes |
Polymorphic ventricular tachycardia characterised by a continuously changing QRS axis, in which the QRS complexes twist around the isoelectric line, usually associated with abnormalities in repolarization like congenital or acquired Long QT syndrome. |
MONDO:0020575 |
| MONDO:0972384 |
gaustad's syndrome |
icd11.foundation:1509392955 |
MONDO:equivalentTo |
Gaustad's syndrome |
|
MONDO:0001711 |
| MONDO:0972385 |
scapulohumeral myopathy |
icd11.foundation:1509500850 |
MONDO:equivalentTo |
Scapulohumeral myopathy |
|
MONDO:0020121 |
| MONDO:0972386 |
progressive myoclonic epilepsy type 1 |
icd11.foundation:150954581 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy type 1 |
Unverricht-Lundborg disease (ULD) is the purest and least severe type of progressive myoclonus epilepsy (PME), and is not associated with progressive cognitive deficit. It evolves towards a stabilization of symptoms in adulthood, with a varying degree of permanent, often severe, handicap that is mostly due to myoclonus. |
MONDO:0020074 |
| MONDO:0972387 |
spindle cell squamous cell carcinoma of oropharynx |
icd11.foundation:1509847035 |
MONDO:equivalentTo |
Spindle cell squamous cell carcinoma of oropharynx |
|
MONDO:0044704 |
| MONDO:0972388 |
accessory sinuses fistula |
icd11.foundation:1511666294 |
MONDO:equivalentTo |
Accessory sinuses fistula |
|
MONDO:0006031 |
| MONDO:0972389 |
pneumocholecystitis |
icd11.foundation:1511689000 |
MONDO:equivalentTo |
Pneumocholecystitis |
|
MONDO:0043994 |
| MONDO:0972390 |
acute myeloid leukaemia with t(6;9)(p23;q34); dek- nup214 |
icd11.foundation:1512142924 |
MONDO:equivalentTo |
Acute myeloid leukaemia with t(6;9)(p23;q34); DEK- NUP214 |
An acute myeloid leukaemia associated with t(6;9)(p23;q34) resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. It affects both children and adults and it usually has an unfavorable clinical outcome. |
MONDO:0020078 |
| MONDO:0972391 |
interrupted aortic arch between subclavian and common carotid arteries, type b |
icd11.foundation:1512205361 |
MONDO:equivalentTo |
Interrupted aortic arch between subclavian and common carotid arteries, type B |
A congenital cardiovascular malformation of the aorta in which there is an absence of luminal continuity of the aorta between the carotid and subclavian arteries. |
MONDO:0009010 |
| MONDO:0972392 |
adrenal cortex atrophy |
icd11.foundation:1512952006 |
MONDO:equivalentTo |
Adrenal cortex atrophy |
|
MONDO:0100480 |
| MONDO:0972393 |
punctate palmoplantar keratoderma, type 2 |
icd11.foundation:1514121312 |
MONDO:equivalentTo |
Punctate palmoplantar keratoderma, type 2 |
|
MONDO:0017675 |
| MONDO:0972394 |
infantile convulsions or choreoathetosis |
icd11.foundation:1514333880 |
MONDO:equivalentTo |
Infantile convulsions or choreoathetosis |
The syndrome of Infantile Convulsions and paroxysmal Choreoathetosis (ICCA) is characterised by infantile convulsions (afebrile simple, complex partial or apparently generalised tonic-clonic seizures) and choreathetotic dyskinetic attacks that occur spontaneously or are precipitated by a variety of stimuli or by exercise. |
MONDO:0017615 |
| MONDO:0972395 |
congenital absence of metatarsal bone |
icd11.foundation:1515184939 |
MONDO:equivalentTo |
Congenital absence of metatarsal bone |
|
MONDO:0017446 |
| MONDO:0972396 |
cleft lip and alveolus, bilateral |
icd11.foundation:1515325397 |
MONDO:equivalentTo |
Cleft lip and alveolus, bilateral |
|
MONDO:0015420 |
| MONDO:0972397 |
hyperandrogenism due to cortisone reductase deficiency |
icd11.foundation:1515798114 |
MONDO:equivalentTo |
Hyperandrogenism due to cortisone reductase deficiency |
Cortisone reductase deficiency is caused by dysregulation of 11?-hydroxysteroid dehydrogenase type 1 enzyme (11?-HSD1) and refers to a condition characterised by excessive production and/or secretion of androgens, due to the activation of hypothalamic-pituitary adrenal axis. |
MONDO:0015898 |
| MONDO:0972398 |
monostotic fibrous dysplasia, head |
icd11.foundation:1516104474 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, head |
|
MONDO:0019665 |
| MONDO:0972399 |
pyruvate dehydrogenase complex e1-beta subunit deficiency |
icd11.foundation:151727900 |
MONDO:equivalentTo |
Pyruvate dehydrogenase complex E1-beta subunit deficiency |
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by severe lactic acidosis, developmental delay and hypotonia. There are no specific clinical features that distinguish this condition from pyruvate dehydrogenase E1-alpha deficiency. |
MONDO:0019169 |
| MONDO:0972400 |
peripheral pterygium of eye, stationary |
icd11.foundation:151743944 |
MONDO:equivalentTo |
Peripheral pterygium of eye, stationary |
|
MONDO:0005085 |
| MONDO:0972401 |
cleft lip, bilateral |
icd11.foundation:1520576126 |
MONDO:equivalentTo |
Cleft lip, bilateral |
A condition caused by failure of the upper lip to correctly develop during the antenatal period. This condition is characterised by two fissures in the upper lip and a collapsed and stretched nose through one side of the upper lip. This condition may present with disruption of sucking or swallowing in neonates. |
MONDO:0016043 |
| MONDO:0972402 |
certain ulcerative colitis |
icd11.foundation:1521050035 |
MONDO:equivalentTo |
Certain ulcerative colitis |
|
MONDO:0005101 |
| MONDO:0972403 |
acute inflammation of petrous bone |
icd11.foundation:1521135878 |
MONDO:equivalentTo |
Acute inflammation of petrous bone |
|
MONDO:0001109 |
| MONDO:0972404 |
prolapse of ureter with obstruction and infection |
icd11.foundation:1521902246 |
MONDO:equivalentTo |
Prolapse of ureter with obstruction and infection |
|
MONDO:0021750 |
| MONDO:0972405 |
benign epithelial tumour of appendix |
icd11.foundation:152201097 |
MONDO:equivalentTo |
Benign epithelial tumour of appendix |
|
MONDO:0021465 |
| MONDO:0972406 |
functional bladder disorders associated with pelvic organ prolapse |
icd11.foundation:152243221 |
MONDO:equivalentTo |
Functional bladder disorders associated with pelvic organ prolapse |
Any condition characterised by urinary postponement, stress incontinence, urge incontinence, urinary urgency, or urinary incontinence, or dysfunctional urinary voiding. These conditions are associated with abnormal displacement of one or more pelvic organs. |
MONDO:0000082 |
| MONDO:0972407 |
other forms of blastomycosis |
icd11.foundation:1522477429 |
MONDO:equivalentTo |
Other forms of blastomycosis |
|
MONDO:0005672 |
| MONDO:0972408 |
bursopathy, not elsewhere classified |
icd11.foundation:1523224675 |
MONDO:equivalentTo |
Bursopathy, not elsewhere classified |
|
MONDO:0002471 |
| MONDO:0972409 |
impaired venous drainage |
icd11.foundation:152353343 |
MONDO:equivalentTo |
Impaired venous drainage |
This a type of communicating hydrocephalus where the ventriculomegaly seen in some achondroplastic patients is likely to be caused by increased intracranial venous sinus pressure secondary to jugular vein stenosis at the level of the jugular foramen and/or thoracic inlet. |
MONDO:0002045 |
| MONDO:0972410 |
chondrocalcinosis, lower leg |
icd11.foundation:1523977980 |
MONDO:equivalentTo |
Chondrocalcinosis, lower leg |
|
MONDO:0001314 |
| MONDO:0972411 |
fibrodysplasia ossificans progressiva, head |
icd11.foundation:1524440979 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, head |
|
MONDO:0007606 |
| MONDO:0972412 |
adrenal gland necrosis |
icd11.foundation:1524980703 |
MONDO:equivalentTo |
Adrenal gland necrosis |
|
MONDO:0000004 |
| MONDO:0972413 |
mucopurulent conjunctivitis |
icd11.foundation:1527773104 |
MONDO:equivalentTo |
Mucopurulent conjunctivitis |
These are infections of the conjunctiva, containing mucus and pus, by several species such as Haemophilus, Streptococcus, Neisseria, and Chlamydia. |
MONDO:0006668 |
| MONDO:0972414 |
autoimmune hepatitis type 2 with cirrhosis |
icd11.foundation:1527848353 |
MONDO:equivalentTo |
Autoimmune hepatitis type 2 with cirrhosis |
Autoimmune hepatitis type 2 with cirrhosis is autoimmune hepatitis type 2 complicated with liver cirrhosis. |
MONDO:0021176 |
| MONDO:0972415 |
myeloid metaplasia |
icd11.foundation:1527893257 |
MONDO:equivalentTo |
Myeloid metaplasia |
|
MONDO:0006795 |
| MONDO:0972416 |
distal 17p13.3 deletion |
icd11.foundation:1528310650 |
MONDO:equivalentTo |
Distal 17p13.3 deletion |
|
MONDO:0022754 |
| MONDO:0972417 |
congenital digital clubbing, bilateral |
icd11.foundation:1528716577 |
MONDO:equivalentTo |
Congenital digital clubbing, bilateral |
|
MONDO:0007343 |
| MONDO:0972418 |
recurrent infection due to specific granule deficiency |
icd11.foundation:1528881101 |
MONDO:equivalentTo |
Recurrent infection due to specific granule deficiency |
This refers to recurrent infection due to the deficiency of secretory vesicles found exclusively in cells of the immune system called granulocytes. |
MONDO:0015978 |
| MONDO:0972419 |
restrictive cardiomyopathy due to sarcoidosis |
icd11.foundation:1529057744 |
MONDO:equivalentTo |
Restrictive cardiomyopathy due to sarcoidosis |
|
MONDO:0016345 |
| MONDO:0972420 |
finnish variant of late infantile neuronal ceroid lipofuscinosis |
icd11.foundation:1529318668 |
MONDO:equivalentTo |
Finnish variant of late infantile neuronal ceroid lipofuscinosis |
Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis characterised by seizures, progressive decline of intellectual capacities and variable loss of vision. |
MONDO:0016295 |
| MONDO:0972421 |
gaseous pericholecystitis |
icd11.foundation:1530167960 |
MONDO:equivalentTo |
Gaseous pericholecystitis |
|
MONDO:0043994 |
| MONDO:0972422 |
adiposis cerebralis |
icd11.foundation:1530400051 |
MONDO:equivalentTo |
Adiposis cerebralis |
|
MONDO:0015127 |
| MONDO:0972423 |
alternating esotropia with other noncomitancies |
icd11.foundation:1531811427 |
MONDO:equivalentTo |
Alternating esotropia with other noncomitancies |
Alternating esotropia with other noncomitancies is an abnormal binocular alignment in which one of the eyes alternately has an inward deviation. The additional descriptive feature of noncomitancies is specified in which the size of the inward misalignment varies depending on the direction of gaze. |
MONDO:0004896 |
| MONDO:0972424 |
ataxia due to alcoholic cerebellar degeneration |
icd11.foundation:1532145862 |
MONDO:equivalentTo |
Ataxia due to alcoholic cerebellar degeneration |
This is the most common form of acquired ataxia and occurs among people suffering from degeneration of the cerebellum as a result of chronic alcohol use. |
MONDO:0016593 |
| MONDO:0972425 |
other bacterial panuveitis |
icd11.foundation:1532201969 |
MONDO:equivalentTo |
Other bacterial panuveitis |
|
MONDO:0017211 |
| MONDO:0972426 |
sicca laryngitis |
icd11.foundation:1532389143 |
MONDO:equivalentTo |
Sicca laryngitis |
|
MONDO:0001369 |
| MONDO:0972427 |
symptomatic form of haemophilia a in female carriers |
icd11.foundation:1533214918 |
MONDO:equivalentTo |
Symptomatic form of haemophilia A in female carriers |
Symptomatic haemophilia A in female carriers is a form of haemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII. Symptoms include abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Spontaneous haemorrhages may occur occasionally. Transmission is X-linked recessive. |
MONDO:0010602 |
| MONDO:0972428 |
deficiency of citrulline phosphorylase |
icd11.foundation:1533920789 |
MONDO:equivalentTo |
Deficiency of citrulline phosphorylase |
|
MONDO:0017356 |
| MONDO:0972429 |
hypoparathyroidism by glial cells missing b mutations |
icd11.foundation:153432885 |
MONDO:equivalentTo |
Hypoparathyroidism by glial cells missing B mutations |
GCMB is a transcription factor which have essential role in the development of parathyroid hormone. Both autosomal dominant and recessive forms of familial hypoparathyroidism due to mutations in GCMB gene have been reported. (OMIM #146200) |
MONDO:0010618 |
| MONDO:0972430 |
keratoconus, unstable |
icd11.foundation:1534345368 |
MONDO:equivalentTo |
Keratoconus, unstable |
This is a degenerative disorder of the eye in which structural changes within the cornea cause it to thin and change to a more conical shape than its normal gradual curve. This diagnosis is unstable. |
MONDO:0015486 |
| MONDO:0972431 |
atypical chronic myeloid leukaemia, bcr-abl1-negative in complete remission |
icd11.foundation:1534506036 |
MONDO:equivalentTo |
Atypical chronic myeloid leukaemia, BCR-ABL1-negative in complete remission |
|
MONDO:0004653 |
| MONDO:0972432 |
mechanical strabismus due to thyroid eye disease |
icd11.foundation:1534723321 |
MONDO:equivalentTo |
Mechanical strabismus due to thyroid eye disease |
|
MONDO:0004753 |
| MONDO:0972433 |
radiculopathy due to radiation injury |
icd11.foundation:1536491255 |
MONDO:equivalentTo |
Radiculopathy due to radiation injury |
|
MONDO:0002959 |
| MONDO:0972434 |
cardiovascular complications of behet disease |
icd11.foundation:1536976431 |
MONDO:equivalentTo |
Cardiovascular complications of Behet disease |
|
MONDO:0007191 |
| MONDO:0972435 |
pelizaeus-merzbacher disease late onset form |
icd11.foundation:153698192 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher disease late onset form |
|
MONDO:0010714 |
| MONDO:0972436 |
verrucous lupus erythematosus |
icd11.foundation:1537801570 |
MONDO:equivalentTo |
Verrucous lupus erythematosus |
A disfiguring and often treatment-resistant from of chronic cutaneous lupus erythematosus characterised by marked warty hyperkeratosis of involved skin. If hyperkeratosis is marked, a warty lesion with a red, slightly raised edge results. Verrucous lupus erythematosus is most commonly seen on the nose, temples, ears and scalp but may also occur on the palms and soles. |
MONDO:0015574 |
| MONDO:0972437 |
acute miliary tuberculosis of multiple sites |
icd11.foundation:1538650927 |
MONDO:equivalentTo |
Acute miliary tuberculosis of multiple sites |
A disease caused by an infection with the bacteria Mycobacterium tuberculosis that is disseminated through the body, and affecting multiple body sites. This disease is characterised by numerous small lesions of 1-5 millimetre(s) in more than one organ, and fever. Transmission is commonly by inhalation of infected respiratory secretions. Confirmation is by radiography, advanced imaging, ultrasonography, and identification of Mycobacterium tuberculosis, depending on the sites affected. |
MONDO:0005848 |
| MONDO:0972438 |
vaginal contracture |
icd11.foundation:1538767324 |
MONDO:equivalentTo |
Vaginal contracture |
|
MONDO:0019007 |
| MONDO:0972439 |
differentiated type or mature benign cystic teratoma of testis, adult |
icd11.foundation:1539180710 |
MONDO:equivalentTo |
Differentiated type or mature benign cystic teratoma of testis, adult |
|
MONDO:0021447 |
| MONDO:0972440 |
hairy-c ell leukaemia in compete remission |
icd11.foundation:1539420412 |
MONDO:equivalentTo |
Hairy-c ell leukaemia in compete remission |
|
MONDO:0018935 |
| MONDO:0972441 |
hyper-beta-alaninaemia |
icd11.foundation:1539941275 |
MONDO:equivalentTo |
Hyper-beta-alaninaemia |
|
MONDO:0019238 |
| MONDO:0972442 |
idiopathic hilar fibrosis |
icd11.foundation:1541668799 |
MONDO:equivalentTo |
Idiopathic hilar fibrosis |
|
MONDO:0018978 |
| MONDO:0972443 |
succinyl-coa acetoacetate transferase deficiency |
icd11.foundation:1541815077 |
MONDO:equivalentTo |
Succinyl-CoA acetoacetate transferase deficiency |
Succinyl-CoA acetoacetate transferase deficiency is a ketolytic defect, in which extrahepatic tissues cannot use the ketone bodies produced by the liver. This disorder is characterised clinically by intermittent ketoacidosis with, however, no clinical symptoms between these episodes. Ketoacidotic episodes are usually severe and the first episode develops in the neonatal period or early childhood (6-20mo). |
MONDO:0019229 |
| MONDO:0972444 |
acute lymphadenitis |
icd11.foundation:1542124704 |
MONDO:equivalentTo |
Acute lymphadenitis |
|
MONDO:0002052 |
| MONDO:0972445 |
skeletal fluorosis, trunk |
icd11.foundation:1543981658 |
MONDO:equivalentTo |
Skeletal fluorosis, trunk |
|
MONDO:0400003 |
| MONDO:0972446 |
inner ear infection, not elsewhere classified |
icd11.foundation:1544416137 |
MONDO:equivalentTo |
Inner ear infection, not elsewhere classified |
|
MONDO:0002008 |
| MONDO:0972447 |
glycogen storage disease due to glycogen phosphorylase kinase deficiency |
icd11.foundation:1544583473 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen phosphorylase kinase deficiency |
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms). |
MONDO:0002412 |
| MONDO:0972448 |
acute hereditary essential oedema |
icd11.foundation:1544654070 |
MONDO:equivalentTo |
Acute hereditary essential oedema |
|
MONDO:0019623 |
| MONDO:0972449 |
amenorrhoea-hyperprolactinaemia syndrome |
icd11.foundation:1544827413 |
MONDO:equivalentTo |
Amenorrhoea-hyperprolactinaemia syndrome |
|
MONDO:0005152 |
| MONDO:0972450 |
pityriasis lichenoides et varioliformis acuta |
icd11.foundation:1545407981 |
MONDO:equivalentTo |
Pityriasis lichenoides et varioliformis acuta |
Pityriasis lichenoides et varioliformis acuta, commonly referred to as PLEVA, is an acute form of pityriasis lichenoides which manifests as crops of oedematous pink papules over the proximal limbs and trunk which progress to vesicles and central haemorrhagic necrosis before healing with scarring. The cause of PLEVA is unknown. It may be confused clinically with varicella. |
MONDO:0024249 |
| MONDO:0972451 |
congenital arteriovenous fistula of cerebral vessels |
icd11.foundation:1545847420 |
MONDO:equivalentTo |
Congenital arteriovenous fistula of cerebral vessels |
|
MONDO:0007154 |
| MONDO:0972452 |
special forms of acne |
icd11.foundation:1546926458 |
MONDO:equivalentTo |
Special forms of acne |
|
MONDO:0011438 |
| MONDO:0972453 |
autosomal dominant hereditary spastic paraplegia |
icd11.foundation:1547801209 |
MONDO:equivalentTo |
Autosomal dominant hereditary spastic paraplegia |
|
MONDO:0019064 |
| MONDO:0972454 |
metastatic ovarian cancer [primary ovarian cancer spreading elsewhere] |
icd11.foundation:1548011167 |
MONDO:equivalentTo |
Metastatic ovarian cancer [primary ovarian cancer spreading elsewhere] |
|
MONDO:0008170 |
| MONDO:0972455 |
emery-dreifuss muscular dystrophy, autosomal dominant |
icd11.foundation:15480497 |
MONDO:equivalentTo |
Emery-Dreifuss muscular dystrophy, autosomal dominant |
Autosomal dominant Emery-Dreifuss muscular dystrophy is one of a number of allelic disorders caused by mutations in the nuclear lamina proteins, lamins A and C. The disorder is characterised by the early onset of skeletal muscle weakness and joint contractures and later, by dilated cardiomyopathy and cardiac arrhythmias. Although the pathophysiology is not understood, one theory suggests that disordered structural organisation at weakened nuclei in contractile cells may underlie the disease. |
MONDO:0016830 |
| MONDO:0972456 |
deletions of chromosome 3 |
icd11.foundation:1548270713 |
MONDO:equivalentTo |
Deletions of chromosome 3 |
|
MONDO:0020054 |
| MONDO:0972457 |
congenital dyserythropoietic anaemia type iii |
icd11.foundation:1548454380 |
MONDO:equivalentTo |
Congenital dyserythropoietic anaemia type III |
This is a congenital, rare blood disorder, similar to the thalassemias, while CDA type III appears to have an autosomal dominant pattern of inheritance. |
MONDO:0019403 |
| MONDO:0972458 |
dermoid cyst with malignant transformation of ovary |
icd11.foundation:1548551094 |
MONDO:equivalentTo |
Dermoid cyst with malignant transformation of ovary |
|
MONDO:0008170 |
| MONDO:0972459 |
encephalitis due to herpes simplex type 1 |
icd11.foundation:1548801187 |
MONDO:equivalentTo |
Encephalitis due to herpes simplex type 1 |
An inflammatory process of the brain, frequently with evidence of meningeal involvement, due to infection by Herpes simplex type 1 virus. The clinical manifestations are usually acute, but may be subacute, with fever and variable combinations of convulsions, impaired mental state, and focal deficits. There is frequently preferential involvement of the temporal and frontal lobes. The spinal fluid may show a cellular reaction and elevated protein. Diagnosis is by neuroimaging, spinal fluid analysis and culture, PCR, and serologic tests. |
MONDO:0012521 |
| MONDO:0972460 |
pseudoxanthomatous nodular cutaneous mastocytosis |
icd11.foundation:1549543493 |
MONDO:equivalentTo |
Pseudoxanthomatous nodular cutaneous mastocytosis |
Pseudoxanthomatous nodular cutaneous mastocytosis is a rare variant of cutaneous mastocytosis which presents in infancy with yellowish to red-brown papules and nodules which resemble xanthomata. Histologically there is infiltration of mast cells deep into the lower dermis. It tends to persist longer than other childhood forms of cutaneous mastocytosis. |
MONDO:0019315 |
| MONDO:0972461 |
secondary disorders of external ear |
icd11.foundation:1549782473 |
MONDO:equivalentTo |
Secondary disorders of external ear |
This refers to disorders of the external portion of the ear, which consists of the pinna and external auditory meatus, in diseases classified elsewhere. |
MONDO:0004795 |
| MONDO:0972462 |
x-linked dominant fabry disease |
icd11.foundation:1550656851 |
MONDO:equivalentTo |
X-linked dominant Fabry disease |
This is a rare X-linked lysosomal storage disease, which can cause a wide range of systemic symptoms. The inheritance is X-linked dominant. |
MONDO:0010526 |
| MONDO:0972463 |
gestational thyrotoxicosis |
icd11.foundation:1551425017 |
MONDO:equivalentTo |
Gestational thyrotoxicosis |
|
MONDO:0011309 |
| MONDO:0972464 |
systemic lupus erythematosus with neuropsychiatric involvement |
icd11.foundation:1552156400 |
MONDO:equivalentTo |
Systemic lupus erythematosus with neuropsychiatric involvement |
|
MONDO:0007915 |
| MONDO:0972465 |
congenital subglottic stenosis, grade 1 |
icd11.foundation:1552698278 |
MONDO:equivalentTo |
Congenital subglottic stenosis, grade 1 |
A condition characterised by less than 50% stenosis according to the Cotton-Meyer scale. |
MONDO:0015395 |
| MONDO:0972466 |
other schistosomiases |
icd11.foundation:1552774890 |
MONDO:equivalentTo |
Other schistosomiases |
|
MONDO:0015254 |
| MONDO:0972467 |
progressive septic granulomatosis |
icd11.foundation:1552921428 |
MONDO:equivalentTo |
Progressive septic granulomatosis |
|
MONDO:0018305 |
| MONDO:0972468 |
suppurative myositis |
icd11.foundation:1553209190 |
MONDO:equivalentTo |
Suppurative myositis |
|
MONDO:0023483 |
| MONDO:0972469 |
posterior uveitis, other fungi |
icd11.foundation:1553758245 |
MONDO:equivalentTo |
Posterior uveitis, other fungi |
|
MONDO:0017209 |
| MONDO:0972470 |
severe proteinuric hypertension of pregnancy |
icd11.foundation:1555338029 |
MONDO:equivalentTo |
Severe proteinuric hypertension of pregnancy |
|
MONDO:0001641 |
| MONDO:0972471 |
x-linked recessive hypoparathyroidism |
icd11.foundation:1556293460 |
MONDO:equivalentTo |
X-linked recessive hypoparathyroidism |
This refers to an x-linked recessive, decreased function of the parathyroid glands with underproduction of parathyroid hormone. |
MONDO:0010618 |
| MONDO:0972472 |
epithelial juvenile corneal dystrophy |
icd11.foundation:1556375363 |
MONDO:equivalentTo |
Epithelial juvenile corneal dystrophy |
|
MONDO:0018102 |
| MONDO:0972473 |
cardioauditory syndrome |
icd11.foundation:15569778 |
MONDO:equivalentTo |
Cardioauditory syndrome |
|
MONDO:0019589 |
| MONDO:0972474 |
inducible costimulator deficiency |
icd11.foundation:1557606808 |
MONDO:equivalentTo |
Inducible costimulator deficiency |
|
MONDO:0015517 |
| MONDO:0972475 |
eosinophilic gastric ulcer |
icd11.foundation:1557992733 |
MONDO:equivalentTo |
Eosinophilic gastric ulcer |
Gastric ulcer caused by eosinophilic gastritis. |
MONDO:0001126 |
| MONDO:0972476 |
kidney infection with calculus and hydronephrosis |
icd11.foundation:1559160289 |
MONDO:equivalentTo |
Kidney infection with calculus and hydronephrosis |
|
MONDO:0021750 |
| MONDO:0972477 |
warty tuberculosis |
icd11.foundation:1559509073 |
MONDO:equivalentTo |
Warty tuberculosis |
Warty tuberculosis results from exogenous inoculation of M. tuberculosis at sites prone to trauma. Starting as a small warty papule, it gradually enlarges to form a firm, reddish-brown verrucous plaque. |
MONDO:0021948 |
| MONDO:0972478 |
hydromicrocephaly |
icd11.foundation:1559903352 |
MONDO:equivalentTo |
Hydromicrocephaly |
|
MONDO:0001149 |
| MONDO:0972479 |
advanced alzheimer disease |
icd11.foundation:1560011865 |
MONDO:equivalentTo |
Advanced Alzheimer disease |
|
MONDO:0004975 |
| MONDO:0972480 |
cornual gestation or pregnancy |
icd11.foundation:1560155880 |
MONDO:equivalentTo |
Cornual gestation or pregnancy |
|
MONDO:0000755 |
| MONDO:0972481 |
mucopolysaccharidosis type 2a |
icd11.foundation:1561374771 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 2A |
Mucopolysaccharidosis type 2, severe form, is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. |
MONDO:0010674 |
| MONDO:0972482 |
autosomal dominant hyperimmunoglobulin e syndrome |
icd11.foundation:1561846514 |
MONDO:equivalentTo |
Autosomal dominant hyperimmunoglobulin E syndrome |
Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterised by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles. |
MONDO:0018037 |
| MONDO:0972483 |
macrogenitosomia |
icd11.foundation:156188982 |
MONDO:equivalentTo |
Macrogenitosomia |
|
MONDO:0015898 |
| MONDO:0972484 |
hydronephrotic atrophy of kidney with infection |
icd11.foundation:1562155795 |
MONDO:equivalentTo |
Hydronephrotic atrophy of kidney with infection |
|
MONDO:0021750 |
| MONDO:0972485 |
humeral agenesis or hypoplasia, bilateral |
icd11.foundation:1562372947 |
MONDO:equivalentTo |
Humeral agenesis or hypoplasia, bilateral |
|
MONDO:0017440 |
| MONDO:0972486 |
hidradenitis suppurativa, atypical forms |
icd11.foundation:1564698188 |
MONDO:equivalentTo |
Hidradenitis suppurativa, atypical forms |
Atypical forms of hidradenitis suppurativa including forms associated with other types of skin inflammation such as pyoderma gangrenosum and acne conglobata. |
MONDO:0006559 |
| MONDO:0972487 |
cauda equina compression due to spinal injury |
icd11.foundation:156537060 |
MONDO:equivalentTo |
Cauda equina compression due to spinal injury |
Cauda equina compression due to significant external trauma leading to narrowing and compromise of the lumbar canal. |
MONDO:0005693 |
| MONDO:0972488 |
allergic rhinitis due to other seasonal allergens |
icd11.foundation:1565925107 |
MONDO:equivalentTo |
Allergic rhinitis due to other seasonal allergens |
This refers to other allergic inflammation of the nasal airways in patients with proven allergy to other allergens besides pollens and house dust mite, with multiple sensitization or as a component of complex conditions such as latex allergy. Clinically characterised by major symptoms: sneezing, nasal pruritus, running nose, and stuffy nose. It occurs when an allergen, such as animal dander (particles of shed skin and hair), insect (cockroach body particles), fungal particles, is inhaled by an individual with a sensitized immune system. |
MONDO:0011786 |
| MONDO:0972489 |
primary dental caries |
icd11.foundation:1566905226 |
MONDO:equivalentTo |
Primary dental caries |
Carious lesion that develops on the surface of sound tooth structure and is not in relation to an existing restoration |
MONDO:0005276 |
| MONDO:0972490 |
femoral agenesis or hypoplasia, bilateral |
icd11.foundation:1567446102 |
MONDO:equivalentTo |
Femoral agenesis or hypoplasia, bilateral |
|
MONDO:0016032 |
| MONDO:0972491 |
adenocarcinoma of overlapping lesion of small intestine |
icd11.foundation:1568038922 |
MONDO:equivalentTo |
Adenocarcinoma of overlapping lesion of small intestine |
|
MONDO:0003198 |
| MONDO:0972492 |
euryblepharon, bilateral |
icd11.foundation:1568054178 |
MONDO:equivalentTo |
Euryblepharon, bilateral |
|
MONDO:0020464 |
| MONDO:0972493 |
passive personality disorder |
icd11.foundation:1568102954 |
MONDO:equivalentTo |
Passive personality disorder |
|
MONDO:0001157 |
| MONDO:0972494 |
classical maple-syrup-urine disease |
icd11.foundation:1568461954 |
MONDO:equivalentTo |
Classical maple-syrup-urine disease |
This is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. |
MONDO:0009563 |
| MONDO:0972495 |
mycosis fungoides with extensive patches or plaques |
icd11.foundation:1568746203 |
MONDO:equivalentTo |
Mycosis fungoides with extensive patches or plaques |
Mycosis fungoides with patches, papules and/or plaques affecting more than 10 % of body surface |
MONDO:0009691 |
| MONDO:0972496 |
7p duplication |
icd11.foundation:1568766405 |
MONDO:equivalentTo |
7p duplication |
|
MONDO:0016944 |
| MONDO:0972497 |
acute paralytic poliomyelitis, wild virus, imported |
icd11.foundation:1568955413 |
MONDO:equivalentTo |
Acute paralytic poliomyelitis, wild virus, imported |
This is an acute inflammation of the spinal cords grey matter, although a severe infection can extend into the brainstem and even higher structures, resulting in polioencephalitis, producing apnoea that requires mechanical assistance such as an iron lung. This diagnosis is caused by wild virus, imported. |
MONDO:0017373 |
| MONDO:0972498 |
multiple ventricular septal defects |
icd11.foundation:1569246842 |
MONDO:equivalentTo |
Multiple ventricular septal defects |
A congenital cardiac malformation in which there are multiple ventricular septal defects, which could be of any type. |
MONDO:0002070 |
| MONDO:0972499 |
discoid lupus erythematosus of upper eyelid |
icd11.foundation:1569429811 |
MONDO:equivalentTo |
Discoid lupus erythematosus of upper eyelid |
|
MONDO:0004706 |
| MONDO:0972500 |
skeletal fluorosis, multiple sites |
icd11.foundation:15695694 |
MONDO:equivalentTo |
Skeletal fluorosis, multiple sites |
|
MONDO:0400003 |
| MONDO:0972501 |
diffuse cutaneous leishmaniasis |
icd11.foundation:1569672963 |
MONDO:equivalentTo |
Diffuse cutaneous leishmaniasis |
Diffuse cutaneous leishmaniasis results from anergy to leishmania infection which allows infection to spread widely over the skin surface. It manifests as progressively spreading painless nodular infiltration of the skin by either L. aethiopica or L. amazonensis. In contrast to disseminated cutaneous leishmaniasis, the leishmanin test is negative, nodules contain abundant parasites and response to therapy poor. |
MONDO:0005446 |
| MONDO:0972502 |
chondrocalcinosis, upper arm |
icd11.foundation:1570098583 |
MONDO:equivalentTo |
Chondrocalcinosis, upper arm |
|
MONDO:0001314 |
| MONDO:0972503 |
severe pre-eclamptic albuminuria |
icd11.foundation:1570413213 |
MONDO:equivalentTo |
Severe pre-eclamptic albuminuria |
|
MONDO:0001641 |
| MONDO:0972504 |
anankastic personality disorder |
icd11.foundation:1570535959 |
MONDO:equivalentTo |
Anankastic personality disorder |
Personality disorder characterised by feelings of doubt, perfectionism, excessive conscientiousness, checking and preoccupation with details, stubbornness, caution, and rigidity. There may be insistent and unwelcome thoughts or impulses that do not attain the severity of an obsessive-compulsive disorder. |
MONDO:0002028 |
| MONDO:0972505 |
benign neoplasm of base of tongue |
icd11.foundation:1570815916 |
MONDO:equivalentTo |
Benign neoplasm of base of tongue |
|
MONDO:0021476 |
| MONDO:0972506 |
pelvic floor muscle disruption |
icd11.foundation:1570959001 |
MONDO:equivalentTo |
Pelvic floor muscle disruption |
A condition caused by damage or trauma to the muscles of the pelvic floor. This condition is characterised by weakness and dysfunction of the muscle. |
MONDO:0000082 |
| MONDO:0972507 |
mediastinal diffuse large-cell lymphoma with sclerosis |
icd11.foundation:1571332036 |
MONDO:equivalentTo |
Mediastinal diffuse large-cell lymphoma with sclerosis |
|
MONDO:0020323 |
| MONDO:0972508 |
citrullinaemia type 2 |
icd11.foundation:1572086295 |
MONDO:equivalentTo |
Citrullinaemia type 2 |
Citrullinemia type 2 is a severe subtype of citrin deficiency characterised clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour (aggression, irritability, and hyperactivity), seizures, and coma. |
MONDO:0016602 |
| MONDO:0972509 |
11p15 deletion |
icd11.foundation:1573398509 |
MONDO:equivalentTo |
11p15 deletion |
|
MONDO:0016893 |
| MONDO:0972510 |
benign neoplasm of body of stomach |
icd11.foundation:1573735483 |
MONDO:equivalentTo |
Benign neoplasm of body of stomach |
|
MONDO:0021449 |
| MONDO:0972511 |
peritoneal fat necrosis |
icd11.foundation:157400367 |
MONDO:equivalentTo |
Peritoneal fat necrosis |
|
MONDO:0004522 |
| MONDO:0972512 |
20q13q33 deletion |
icd11.foundation:1574586826 |
MONDO:equivalentTo |
20q13q33 deletion |
|
MONDO:0016918 |
| MONDO:0972513 |
hypostasis pneumonia |
icd11.foundation:1575436458 |
MONDO:equivalentTo |
Hypostasis pneumonia |
|
MONDO:0005249 |
| MONDO:0972514 |
pharyngoesophageal diverticulum |
icd11.foundation:1575833279 |
MONDO:equivalentTo |
Pharyngoesophageal diverticulum |
|
MONDO:0019620 |
| MONDO:0972515 |
acute pancreatitis due to infection |
icd11.foundation:1576407378 |
MONDO:equivalentTo |
Acute pancreatitis due to infection |
Acute pancreatitis caused by infection of microorganism, such as viruses (mumps, cytomegalovirus, etc), bacteria (Mycoplasma, Salmonella, etc), fungi (Aspergillus, etc), and parasites (Toxoplasma, Ascaris, etc). |
MONDO:0006515 |
| MONDO:0972516 |
right isomerism |
icd11.foundation:1576694141 |
MONDO:equivalentTo |
Right isomerism |
A congenital cardiovascular malformation that is a variant of heterotaxy syndrome in which some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures. |
MONDO:0018677 |
| MONDO:0972517 |
combined oxidative phosphorylation deficiency type 2 |
icd11.foundation:1576919076 |
MONDO:equivalentTo |
Combined oxidative phosphorylation deficiency type 2 |
This is the combined oxiedative deficiency addition of a phosphate (PO43-) group to a protein or other organic molecule. This diagnosis is type 2. |
MONDO:0000732 |
| MONDO:0972518 |
idiopathic portal hypertension |
icd11.foundation:157703821 |
MONDO:equivalentTo |
Idiopathic portal hypertension |
|
MONDO:0005080 |
| MONDO:0972519 |
distal deletions of the short arm of chromosome 7 |
icd11.foundation:1577554510 |
MONDO:equivalentTo |
Distal deletions of the short arm of chromosome 7 |
|
MONDO:0016889 |
| MONDO:0972520 |
tuberculosis of anus and rectum |
icd11.foundation:1578143543 |
MONDO:equivalentTo |
Tuberculosis of anus and rectum |
|
MONDO:0957466 |
| MONDO:0972521 |
19q13 duplication |
icd11.foundation:1578219142 |
MONDO:equivalentTo |
19q13 duplication |
|
MONDO:0016969 |
| MONDO:0972522 |
muckle wells syndrome with amyloidosis |
icd11.foundation:1579637011 |
MONDO:equivalentTo |
Muckle Wells Syndrome with amyloidosis |
|
MONDO:0008633 |
| MONDO:0972523 |
congenital coronary arterial fistula |
icd11.foundation:1580310858 |
MONDO:equivalentTo |
Congenital coronary arterial fistula |
A congenital cardiovascular malformation in which a coronary artery communicates, through an anomalous channel, with a cardiac chamber or with any segment of the systemic or pulmonary circulation. |
MONDO:0015203 |
|
|
|
|
|
|
|
|
|
|
|
|
Additional information: this communication may be simple and direct or may be tortuous and dilated. In order of frequency the involved coronary artery is the right, the left and, rarely, both coronary arteries. Occasionally multiple fistulas are present. |
|
| MONDO:0972524 |
deletions of chromosome 17 |
icd11.foundation:1580437534 |
MONDO:equivalentTo |
Deletions of chromosome 17 |
|
MONDO:0020054 |
| MONDO:0972525 |
frontal sinus fistula |
icd11.foundation:1580466080 |
MONDO:equivalentTo |
Frontal sinus fistula |
|
MONDO:0001120 |
| MONDO:0972526 |
xeroderma due to vitamin a deficiency |
icd11.foundation:1581032752 |
MONDO:equivalentTo |
Xeroderma due to vitamin A deficiency |
|
MONDO:0007016 |
| MONDO:0972527 |
mucocele of gallbladder |
icd11.foundation:1582069677 |
MONDO:equivalentTo |
Mucocele of gallbladder |
|
MONDO:0004859 |
| MONDO:0972528 |
eosinophilic duodenal ulcer |
icd11.foundation:1582490772 |
MONDO:equivalentTo |
Eosinophilic duodenal ulcer |
Duodenal ulcer caused by eosinophilic duodenitis |
MONDO:0005412 |
| MONDO:0972529 |
osteoporosis, shoulder region |
icd11.foundation:1582819269 |
MONDO:equivalentTo |
Osteoporosis, shoulder region |
|
MONDO:0005298 |
| MONDO:0972530 |
pagetoid reticulosis |
icd11.foundation:1582899122 |
MONDO:equivalentTo |
Pagetoid reticulosis |
Pagetoid reticulosis is an indolent cutaneous T-cell lymphoma, most often presenting with a solitary hyperkeratotic acral lesion. It is characterised histologically by a marked pagetoid infiltration of the epidermis. In contrast to classical mycosis fungoides, a greater proportion of cases show CD8+ neoplastic T-cells. |
MONDO:0015821 |
| MONDO:0972531 |
beta thalassaemia major |
icd11.foundation:1583088290 |
MONDO:equivalentTo |
Beta thalassaemia major |
Beta-thalassemia major is a severe early-onset form of beta-thalassemia (see this term) characterised by reduced (beta+) or absent (beta0) synthesis of the beta-chains of haemoglobin (Hb) leading to severe anaemia requiring regular red blood cell transfusions. |
MONDO:0019402 |
| MONDO:0972532 |
familial hemiplegic migraine 1 |
icd11.foundation:1583236457 |
MONDO:equivalentTo |
Familial hemiplegic migraine 1 |
|
MONDO:0000700 |
| MONDO:0972533 |
adenocarcinoma of thymus |
icd11.foundation:1583991874 |
MONDO:equivalentTo |
Adenocarcinoma of thymus |
|
MONDO:0006451 |
| MONDO:0972534 |
paroxysmal exertional dyskinesia |
icd11.foundation:1584375934 |
MONDO:equivalentTo |
Paroxysmal exertional dyskinesia |
Paroxysmal exertion-induced dystonia is characterised by attacks occurring after prolonged exertion. |
MONDO:0016058 |
| MONDO:0972535 |
autoimmune chronic active hepatitis |
icd11.foundation:1584684375 |
MONDO:equivalentTo |
Autoimmune chronic active hepatitis |
|
MONDO:0016264 |
| MONDO:0972536 |
chronic telogen hair shedding secondary to specified cause |
icd11.foundation:1585443443 |
MONDO:equivalentTo |
Chronic telogen hair shedding secondary to specified cause |
Diffuse telogen hair shedding lasting longer than six months secondary to an identified cause. To be a true cause of chronic diffuse telogen hair loss, the relationship between the trigger and the hair loss must be reversible and reproducible. Firm diagnosis requires exclusion of other known causes of shedding (especially androgenetic alopecia) and reversal of the hair loss following correction of the causative factor. Accepted causes of chronic diffuse telogen hair loss are thyroid disorders (both hyperthyroidism and hypothyroidism), profound iron deficiency, severe zinc deficiency, chronic starvation, retinoid drugs and systemic lupus erythematosus. |
MONDO:0002153 |
| MONDO:0972537 |
blistering distal dactylitis |
icd11.foundation:1585764147 |
MONDO:equivalentTo |
Blistering distal dactylitis |
A specific form of bullous impetigo in which large bullae develop on the finger pulps or, less commonly, more proximally on the fingers or on the palms. Either Staphylococcus aureus or Streptococcus pyogenes may be implicated. It typically affects infants and children. |
MONDO:0018182 |
| MONDO:0972538 |
chronic laryngopharyngitis |
icd11.foundation:1585950841 |
MONDO:equivalentTo |
Chronic laryngopharyngitis |
|
MONDO:0001369 |
| MONDO:0972539 |
type iv a combined intrahepatic and extrahepatic duct dilatation |
icd11.foundation:1586171905 |
MONDO:equivalentTo |
Type IV A Combined intrahepatic and extrahepatic duct dilatation |
|
MONDO:0018805 |
| MONDO:0972540 |
glycogen storage liver disease |
icd11.foundation:1586354843 |
MONDO:equivalentTo |
Glycogen storage liver disease |
|
MONDO:0002412 |
| MONDO:0972541 |
aarskog syndrome |
icd11.foundation:1586518852 |
MONDO:equivalentTo |
Aarskog syndrome |
|
MONDO:0010026 |
| MONDO:0972542 |
ankyloblepharon filiforme adnatum, bilateral |
icd11.foundation:1586647629 |
MONDO:equivalentTo |
Ankyloblepharon filiforme adnatum, bilateral |
|
MONDO:0019626 |
| MONDO:0972543 |
anterior communicating artery aneurysm |
icd11.foundation:1586881944 |
MONDO:equivalentTo |
Anterior communicating artery aneurysm |
|
MONDO:0019543 |
| MONDO:0972544 |
hutterite-type cataract |
icd11.foundation:1587536305 |
MONDO:equivalentTo |
Hutterite-type cataract |
|
MONDO:0011060 |
| MONDO:0972545 |
anterior urethral stricture |
icd11.foundation:1588108148 |
MONDO:equivalentTo |
Anterior urethral stricture |
|
MONDO:0002127 |
| MONDO:0972546 |
lateral facial cleft |
icd11.foundation:1588123786 |
MONDO:equivalentTo |
Lateral facial cleft |
A condition caused by failure of the structures of the face to correctly develop during the antenatal period. This condition is characterised by a malformation positioned horizontally on the face. |
MONDO:0015411 |
| MONDO:0972547 |
extramammary paget disease of anus |
icd11.foundation:1589600380 |
MONDO:equivalentTo |
Extramammary Paget disease of anus |
An intraepithelial adenocarcinoma of apocrine gland-bearing anal and perianal skin. It presents as irritating, itchy, burning, red scaly patches or plaques that may be solitary or multifocal and may be mistaken for an inflammatory dermatosis. |
MONDO:0008177 |
| MONDO:0972548 |
superficial acne without nodules |
icd11.foundation:1590188940 |
MONDO:equivalentTo |
Superficial acne without nodules |
|
MONDO:0011438 |
| MONDO:0972549 |
complications of diphtheria |
icd11.foundation:1590242739 |
MONDO:equivalentTo |
Complications of diphtheria |
Any complication caused by or subsequent to diphtheria that is caused by the gram-positive bacteria Corynebacterium diphtheriae. Complications may include blocked airways, myocarditis, polyneuropathy, paralysis, respiratory failure, or pneumonia. Confirmation is by identification of Corynebacterium diphtheriae from a throat swab or infected tissue, and by clinical signs. |
MONDO:0005504 |
| MONDO:0972550 |
thyrotoxicosis from ectopic thyroid tissue |
icd11.foundation:1590862814 |
MONDO:equivalentTo |
Thyrotoxicosis from ectopic thyroid tissue |
|
MONDO:0010138 |
| MONDO:0972551 |
long qt syndrome, type 12 |
icd11.foundation:1591875973 |
MONDO:equivalentTo |
Long QT syndrome, type 12 |
Genetically proven Long QT syndrome type 12 (SNTA1), with or without clinical manifestations. |
MONDO:0019171 |
| MONDO:0972552 |
phosphoglucomutase-1 deficiency |
icd11.foundation:1592319293 |
MONDO:equivalentTo |
Phosphoglucomutase-1 deficiency |
|
MONDO:0017740 |
| MONDO:0972553 |
nonfamilial primary hyperparathyroidism |
icd11.foundation:1593681770 |
MONDO:equivalentTo |
Nonfamilial primary hyperparathyroidism |
This refers to non-familial primary overactivity of the parathyroid glands resulting in excess production of parathyroid hormone (PTH) |
MONDO:0010837 |
| MONDO:0972554 |
classical hodgkin lymphoma, lymphocyte depletion, diffuse fibrosis |
icd11.foundation:1593769549 |
MONDO:equivalentTo |
Classical Hodgkin lymphoma, lymphocyte depletion, diffuse fibrosis |
|
MONDO:0004620 |
| MONDO:0972555 |
myositis ossificans associated with dermatopolymyositis |
icd11.foundation:1594099999 |
MONDO:equivalentTo |
Myositis ossificans associated with dermatopolymyositis |
|
MONDO:0007606 |
| MONDO:0972556 |
complete cryptophthalmia, unilateral |
icd11.foundation:1594304486 |
MONDO:equivalentTo |
Complete cryptophthalmia, unilateral |
|
MONDO:0020360 |
| MONDO:0972557 |
neurogenic arthrogryposis multiplex congenita |
icd11.foundation:1594376206 |
MONDO:equivalentTo |
Neurogenic arthrogryposis multiplex congenita |
Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenital, characterised by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy. |
MONDO:0015168 |
| MONDO:0972558 |
right ventricular failure |
icd11.foundation:1594578199 |
MONDO:equivalentTo |
Right ventricular failure |
Heart failure associated with right ventricular dysfunction manifest by distention of the neck veins, enlargement of the liver, and dependent oedema. |
MONDO:0005252 |
| MONDO:0972559 |
catecholaminergic polymorphic ventricular tachycardia due to calsequestrin mutation |
icd11.foundation:1594892019 |
MONDO:equivalentTo |
Catecholaminergic polymorphic ventricular tachycardia due to Calsequestrin mutation |
Genetically proven catecholaminergic polymorphic ventricular tachycardia due to Calsequestrin mutation (autosomal recessive). |
MONDO:0017990 |
| MONDO:0972560 |
postmenopausal osteoporosis, skull |
icd11.foundation:1595319204 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, skull |
|
MONDO:0008159 |
| MONDO:0972561 |
syndactyly of fingers and toes |
icd11.foundation:1596118227 |
MONDO:equivalentTo |
Syndactyly of fingers and toes |
|
MONDO:0019530 |
| MONDO:0972562 |
liver thrombocytopaenia |
icd11.foundation:1596430501 |
MONDO:equivalentTo |
Liver thrombocytopaenia |
|
MONDO:0001198 |
| MONDO:0972563 |
epithelial hyperplasia of nipple |
icd11.foundation:1596605657 |
MONDO:equivalentTo |
Epithelial hyperplasia of nipple |
|
MONDO:0001100 |
| MONDO:0972564 |
tibio-fibular synostosis, unilateral |
icd11.foundation:1596656231 |
MONDO:equivalentTo |
Tibio-fibular synostosis, unilateral |
|
MONDO:0017467 |
| MONDO:0972565 |
gingival pocket |
icd11.foundation:1597362926 |
MONDO:equivalentTo |
Gingival pocket |
|
MONDO:0020782 |
| MONDO:0972566 |
cicatrizing conjunctivitis |
icd11.foundation:1598536988 |
MONDO:equivalentTo |
Cicatrizing conjunctivitis |
|
MONDO:0003799 |
| MONDO:0972567 |
autoimmune thyroiditis |
icd11.foundation:1599407074 |
MONDO:equivalentTo |
Autoimmune thyroiditis |
A chronic inflammatory disorder of the thyroid gland associated with abnormal circulatory antibodies. |
MONDO:0004126 |
| MONDO:0972568 |
proximal deletions of the long arm of chromosome 6 |
icd11.foundation:1599486202 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 6 |
|
MONDO:0016905 |
| MONDO:0972569 |
recurrent urethral stricture after transurethral or open surgical manipulation for urethral stricture |
icd11.foundation:1599761709 |
MONDO:equivalentTo |
Recurrent urethral stricture after transurethral or open surgical manipulation for urethral stricture |
Surgical manipulations for urethral strictures lead to defects of the mucosa and the corpus spongiosum which may cause fibrotic processes leading to recurrent strictures. |
MONDO:0002127 |
| MONDO:0972570 |
solitary bone cyst, ankle or foot |
icd11.foundation:1600093466 |
MONDO:equivalentTo |
Solitary bone cyst, ankle or foot |
|
MONDO:0019372 |
| MONDO:0972571 |
congenital myasthenic syndrome with glycosylation deficiency |
icd11.foundation:1600121647 |
MONDO:equivalentTo |
Congenital myasthenic syndrome with glycosylation deficiency |
Congenital myasthenic syndromes with glycosylation deficiency include GFPT1 defect, DPAGT1 defect, ALG2 defect, and ALG14 defect. Loss-of-function mutations of these genes combine a limbgirdle pattern of autosomal recessively inherited myasthenia and tubular aggregates on muscle biopsies. |
MONDO:0018940 |
| MONDO:0972572 |
allergic asthma with status asthmaticus |
icd11.foundation:1600219939 |
MONDO:equivalentTo |
Allergic asthma with status asthmaticus |
|
MONDO:0004784 |
| MONDO:0972573 |
ascariasis with intestinal complications |
icd11.foundation:1601158066 |
MONDO:equivalentTo |
Ascariasis with intestinal complications |
Infection by nematodes of the genus Ascaris. Ingestion of infective eggs causes diarrhoea and pneumonitis. Its distribution is more prevalent in areas of poor sanitation and where human faeces are used for fertilizer. Intestinal complications may include (radiating) abdominal pain, distention, colic, nausea, anorexia or intestinal obstruction. |
MONDO:0005654 |
| MONDO:0972574 |
x-linked recessive fabry disease |
icd11.foundation:160117042 |
MONDO:equivalentTo |
X-linked recessive Fabry disease |
This is a rare X-linked lysosomal storage disease, which can cause a wide range of systemic symptoms. The inheritance is X-linked recessive. |
MONDO:0010526 |
| MONDO:0972575 |
adenocarcinoma of ampulla of vater |
icd11.foundation:1601321941 |
MONDO:equivalentTo |
Adenocarcinoma of ampulla of Vater |
A malignant glandular epithelial tumour arising in the ampulla of Vater |
MONDO:0017590 |
| MONDO:0972576 |
intermediate stomatocytosis syndrome |
icd11.foundation:1601478953 |
MONDO:equivalentTo |
Intermediate stomatocytosis syndrome |
|
MONDO:0020102 |
| MONDO:0972577 |
heart paresis |
icd11.foundation:1601656670 |
MONDO:equivalentTo |
Heart paresis |
|
MONDO:0005252 |
| MONDO:0972578 |
pelizaeus-merzbacher-like due to hspd1 mutation |
icd11.foundation:1602587432 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher-like due to HSPD1 mutation |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; ). This type is due to a mutation in the HSPD1 gene. |
MONDO:0017226 |
| MONDO:0972579 |
congenital pulmonary alveolar proteinosis |
icd11.foundation:1603032478 |
MONDO:equivalentTo |
Congenital pulmonary alveolar proteinosis |
This is a primary, rare lung disease in which abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. PAP can occur in a primary form or secondarily in the settings of malignancy (especially in myeloid leukemia), pulmonary infection, or environmental exposure to dusts or chemicals. |
MONDO:0001437 |
| MONDO:0972580 |
congenital perforated nasal septum |
icd11.foundation:160354112 |
MONDO:equivalentTo |
Congenital perforated nasal septum |
A condition caused by trauma during birth or by failure of the nasal septum to correctly develop during the antenatal period. This condition is characterised by the presence of a hole in the nasal septum. |
MONDO:0015503 |
| MONDO:0972581 |
drug-induced osteoporosis, shoulder region |
icd11.foundation:160608220 |
MONDO:equivalentTo |
Drug-induced osteoporosis, shoulder region |
|
MONDO:0024650 |
| MONDO:0972582 |
palindromic rheumatism, ankle or foot |
icd11.foundation:1606863351 |
MONDO:equivalentTo |
Palindromic rheumatism, ankle or foot |
|
MONDO:0001332 |
| MONDO:0972583 |
distal interphalangeal psoriatic arthritis |
icd11.foundation:1607360052 |
MONDO:equivalentTo |
Distal interphalangeal psoriatic arthritis |
|
MONDO:0011849 |
| MONDO:0972584 |
paraneoplastic limbic encephalitis, neural autoantibody positive |
icd11.foundation:1607842542 |
MONDO:equivalentTo |
Paraneoplastic limbic encephalitis, neural autoantibody positive |
Paraneoplastic limbic encephalitis seropositive for neural autoantibodies. When these neural antibodies target plasma membrane antigens they are effectors of injury (e.g. gamma-aminobutyric-acid type-B [GABA-B] associated with small cell lung cancer) through multiple effector mechanisms. However, when targeting nuclear or cytoplasmic antigens (e.g. antineuronal nuclear antibody type 1 [ANNA-1 or anti-Hu] associated with small cell lung cancer) they are markers of a T-cell effector mediated injury as they are inaccessible to immune attack in situ, but peptides from intracellular proteins are displayed on upregulated MHC class 1 molecules in a pro-inflammatory cytokine milieu and then accessible to peptide specific cytotoxic T-cells. |
MONDO:0015589 |
|
|
|
|
|
Associated neural autoantibodies include: |
|
|
|
|
|
|
AMPA-R (aquaporin-4 autoantibodies); amphiphysin; ANNA-1(anti-Hu) (antineuronal nuclear autoantibody type 1); ANNA-2(anti-Ri) (antineuronal nuclear autoantibody type 2); ANNA-3 (antineuronal nuclear autoantibody type 1); CRMP5(anti-CV2) (collapsin response mediator protein 5); GABABR (Gamma-aminobutyric-acid type-B); Ma1; Ma2; mGluR5 (metabotropic glutamate receptor antibody type 5); NMDA-R (N-methyl-D-aspartate receptor autoantibodies); PCA-2 (purkinje cell cytoplasmic autoantibody type 2); PCA-Tr (purkinje cell autoantibody-Tr); |
|
| MONDO:0972585 |
nonfamilial hypertrophic cardiomyopathy |
icd11.foundation:1608206534 |
MONDO:equivalentTo |
Nonfamilial hypertrophic cardiomyopathy |
Nonfamilial hypertrophic cardiomyopathy is hypertrophic cardiomyopathy without a familial-genetic cause or secondary to an acquired systemic disorder that is known to be associated with hypertrophic cardiomyopathy such as due to hyperinsulinism or amyloid. |
MONDO:0005045 |
| MONDO:0972586 |
mannosyltransferase 8 deficiency |
icd11.foundation:160861812 |
MONDO:equivalentTo |
Mannosyltransferase 8 deficiency |
The CDG (Congenital disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ig is characterised by psychomotor delay, hypotonia, facial dysmorphism, failure to thrive and coagulation anomalies. It has been described in six children. Genital hypoplasia in the males and recurrent infections, probably associated with a decrease in immunoglobulin G levels, were also reported in some of the patients. The syndrome is associated with mutations in the ALG12 gene (localised to chromosome 22) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,6-mannosyl transferase. |
MONDO:0017740 |
| MONDO:0972587 |
fetal rhabdomyoma |
icd11.foundation:1608974374 |
MONDO:equivalentTo |
Fetal rhabdomyoma |
|
MONDO:0036688 |
| MONDO:0972588 |
respiratory failure, unspecified as acute or chronic |
icd11.foundation:1609027855 |
MONDO:equivalentTo |
Respiratory failure, unspecified as acute or chronic |
This is inadequate gas exchange by the respiratory system, with the result that levels of arterial oxygen, carbon dioxide or both cannot be maintained within their normal ranges, unspecified. |
MONDO:0021113 |
| MONDO:0972589 |
congenital bowing of tibia |
icd11.foundation:1609519581 |
MONDO:equivalentTo |
Congenital bowing of tibia |
A condition caused by failure of the tibia to develop correctly during the antenatal period. This condition is characterised by abnormal angling of the tibia. Confirmation is through observation of the bowed tibia by imaging. |
MONDO:0008882 |
| MONDO:0972590 |
cluster of differentiation 81 deficiency |
icd11.foundation:161007575 |
MONDO:equivalentTo |
Cluster of differentiation 81 deficiency |
|
MONDO:0015517 |
| MONDO:0972591 |
cauda equina compression due to inflammation |
icd11.foundation:1610169488 |
MONDO:equivalentTo |
Cauda equina compression due to inflammation |
|
MONDO:0005693 |
| MONDO:0972592 |
chronic pericarditis |
icd11.foundation:1610608772 |
MONDO:equivalentTo |
Chronic pericarditis |
|
MONDO:0005904 |
| MONDO:0972593 |
brugada syndrome with spontaneous brugada ecg pattern |
icd11.foundation:1610890189 |
MONDO:equivalentTo |
Brugada Syndrome with spontaneous Brugada ECG pattern |
Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death associated with a spontaneous Brugada pattern ECG. |
MONDO:0015263 |
| MONDO:0972594 |
igg4-related hepatopathy |
icd11.foundation:1611698550 |
MONDO:equivalentTo |
IgG4-related hepatopathy |
|
MONDO:0017287 |
| MONDO:0972595 |
multiple pterygium syndrome, lethal forms |
icd11.foundation:1611756128 |
MONDO:equivalentTo |
Multiple pterygium syndrome, lethal forms |
Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton. LMPS is characterised by growth deficiency of prenatal onset, pterygia present in multiple areas (chin to sternum, cervical, axillary, humero-ulnar, crural, popliteal, and the ankles) and flexion contractures giving rise to severe arthrogryposis. |
MONDO:0017415 |
| MONDO:0972596 |
acute recurrent haemorrhagic pancreatitis |
icd11.foundation:1612096527 |
MONDO:equivalentTo |
Acute recurrent haemorrhagic pancreatitis |
|
MONDO:0018989 |
| MONDO:0972597 |
megalocornea, unilateral |
icd11.foundation:1612584332 |
MONDO:equivalentTo |
Megalocornea, unilateral |
|
MONDO:0009576 |
| MONDO:0972598 |
platinum oculocutaneous albinism |
icd11.foundation:1612699364 |
MONDO:equivalentTo |
Platinum oculocutaneous albinism |
Platinum OCA is a variant of OCA-1B where patients have a "platinum" hair colour. |
MONDO:0011749 |
| MONDO:0972599 |
dextraposition of aorta in fallot tetralogy |
icd11.foundation:1612836831 |
MONDO:equivalentTo |
Dextraposition of aorta in Fallot tetralogy |
|
MONDO:0008542 |
| MONDO:0972600 |
x-linked hereditary spastic paraplegia |
icd11.foundation:1613343556 |
MONDO:equivalentTo |
X-linked hereditary spastic paraplegia |
|
MONDO:0019064 |
| MONDO:0972601 |
panniculitis, unspecified, lower leg |
icd11.foundation:161359909 |
MONDO:equivalentTo |
Panniculitis, unspecified, lower leg |
|
MONDO:0006591 |
| MONDO:0972602 |
cochleosaccular degeneration - cataract |
icd11.foundation:1613703869 |
MONDO:equivalentTo |
Cochleosaccular degeneration - cataract |
Cochleosaccular degeneration - cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. |
MONDO:0019589 |
| MONDO:0972603 |
secondary pigmentary degeneration |
icd11.foundation:1614333703 |
MONDO:equivalentTo |
Secondary pigmentary degeneration |
|
MONDO:0001451 |
| MONDO:0972604 |
20q13qter duplication |
icd11.foundation:1614389503 |
MONDO:equivalentTo |
20q13qter duplication |
|
MONDO:0016970 |
| MONDO:0972605 |
congenital coronary arterial orifice stenosis |
icd11.foundation:1614456856 |
MONDO:equivalentTo |
Congenital coronary arterial orifice stenosis |
A congenital cardiovascular malformation in which the orifice of a coronary artery is narrowed. |
MONDO:0015203 |
| MONDO:0972606 |
episodic ataxia type 3 - 1q42 mutation |
icd11.foundation:1614724528 |
MONDO:equivalentTo |
Episodic ataxia type 3 - 1q42 mutation |
Episodic ataxia, type 3 is characterised by episodes of generalised ataxia that are responsive to acetazolamide, vertigo, tinnitus, and interictal myokymia. |
MONDO:0016227 |
| MONDO:0972607 |
osteoporosis due to eating disorders |
icd11.foundation:1614749248 |
MONDO:equivalentTo |
Osteoporosis due to eating disorders |
|
MONDO:0005298 |
| MONDO:0972608 |
intrahepatic biliary atresia |
icd11.foundation:1614787527 |
MONDO:equivalentTo |
Intrahepatic biliary atresia |
|
MONDO:0008867 |
| MONDO:0972609 |
thymoma type b of thymus |
icd11.foundation:1614808680 |
MONDO:equivalentTo |
Thymoma type B of thymus |
Thymoma originates from the epithelial cell population in the thymus, and several microscopic subtypes are now recognised. Type B if they have an epithelioid shape (Type B has three subtypes: B1 (lymphocyte-rich), B2 (cortical) and B3 (epithelial)). |
MONDO:0006456 |
| MONDO:0972610 |
preductal coarctation of aorta |
icd11.foundation:1614972736 |
MONDO:equivalentTo |
Preductal coarctation of aorta |
A congenital cardiovascular malformation in which there is narrowing of the aortic lumen proximal to the insertion of the arterial duct (ductus arteriosus) or ligament (ligamentum arteriosum). |
MONDO:0007345 |
| MONDO:0972611 |
methylcobalamin deficiency type cbl e |
icd11.foundation:1615371226 |
MONDO:equivalentTo |
Methylcobalamin deficiency type cbl E |
|
MONDO:0018964 |
| MONDO:0972612 |
hyperplastic pulpitis |
icd11.foundation:1615422274 |
MONDO:equivalentTo |
Hyperplastic pulpitis |
|
MONDO:0001216 |
| MONDO:0972613 |
endometriosis of abdominal incision scar |
icd11.foundation:1616132791 |
MONDO:equivalentTo |
Endometriosis of abdominal incision scar |
|
MONDO:0001287 |
| MONDO:0972614 |
epiplosarcomphalocele |
icd11.foundation:1616149617 |
MONDO:equivalentTo |
Epiplosarcomphalocele |
|
MONDO:0019015 |
| MONDO:0972615 |
adult-onset still disease, ankle or foot |
icd11.foundation:1616179373 |
MONDO:equivalentTo |
Adult-onset Still disease, ankle or foot |
|
MONDO:0019355 |
| MONDO:0972616 |
gingivoglossitis |
icd11.foundation:1616833709 |
MONDO:equivalentTo |
Gingivoglossitis |
|
MONDO:0006771 |
| MONDO:0972617 |
acute myeloid leukaemia with mutated npm1 |
icd11.foundation:1617322056 |
MONDO:equivalentTo |
Acute myeloid leukaemia with mutated NPM1 |
An acute myeloid leukaemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy. |
MONDO:0020078 |
| MONDO:0972618 |
calcific tendinitis, ankle or foot |
icd11.foundation:1617732034 |
MONDO:equivalentTo |
Calcific tendinitis, ankle or foot |
|
MONDO:0001903 |
| MONDO:0972619 |
proximal duplications of the long arm of chromosome 10 |
icd11.foundation:1617804288 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 10 |
|
MONDO:0016961 |
| MONDO:0972620 |
tuberculous gastritis |
icd11.foundation:1618639246 |
MONDO:equivalentTo |
Tuberculous gastritis |
Gastritis caused by infection with Mycobacterium tuberculosis. |
MONDO:0957466 |
| MONDO:0972621 |
alport syndrome, x-linked |
icd11.foundation:1618884033 |
MONDO:equivalentTo |
Alport syndrome, X-linked |
|
MONDO:0018965 |
| MONDO:0972622 |
recessive hereditary methaemoglobinaemia type 1 |
icd11.foundation:1618977507 |
MONDO:equivalentTo |
Recessive hereditary methaemoglobinaemia type 1 |
Autosomal recessive type 1 congenital methemoglobinemia, also referred to as recessive hereditary methemoglobinemia type 1 (RCM type 1/RHM type 1), is a rare red blood cell disorder characterised by elevated concentrations of methemoglobin and cyanosis from birth. |
MONDO:0018963 |
| MONDO:0972623 |
chronic heart failure |
icd11.foundation:1619115863 |
MONDO:equivalentTo |
Chronic heart failure |
|
MONDO:0005252 |
| MONDO:0972624 |
prolapse of anterior vaginal wall |
icd11.foundation:1619125776 |
MONDO:equivalentTo |
Prolapse of anterior vaginal wall |
|
MONDO:0000082 |
| MONDO:0972625 |
intercalary staphyloma |
icd11.foundation:1619645552 |
MONDO:equivalentTo |
Intercalary staphyloma |
|
MONDO:0001579 |
| MONDO:0972626 |
congenital stenosis or stricture of oesophagus |
icd11.foundation:1619764541 |
MONDO:equivalentTo |
Congenital stenosis or stricture of oesophagus |
A form of incomplete oesophageal obstruction due to a developmental defect of the primitive foregut. Abnormal narrowing of the oesophagus occurs most often at the junction of the middle and lower thirds. Clinical manifestations, apparent 2 to 3 weeks after birth, include dysphagia and progressive vomiting. |
MONDO:0019513 |
| MONDO:0972627 |
distal deletions of the long arm of chromosome 6 |
icd11.foundation:1619776905 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 6 |
|
MONDO:0016905 |
| MONDO:0972628 |
microdontia - microtia type i - deafness |
icd11.foundation:1619903146 |
MONDO:equivalentTo |
Microdontia - microtia type I - deafness |
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. in which the profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia); microtia type I with small auricle and narrow external auditory canal; and microdontia with widely spaced teeth. |
MONDO:0019589 |
| MONDO:0972629 |
spondylolisthesis, cervicothoracic region |
icd11.foundation:1619916171 |
MONDO:equivalentTo |
Spondylolisthesis, cervicothoracic region |
|
MONDO:0008475 |
| MONDO:0972630 |
caries of dentine |
icd11.foundation:1620059450 |
MONDO:equivalentTo |
Caries of dentine |
This is an infection, bacterial in origin, that causes demineralization and destruction of the hard tissues (enamel, dentin and cementum), usually by production of acid by bacterial fermentation of the food debris accumulated on the tooth surface. |
MONDO:0005276 |
| MONDO:0972631 |
audiogenic epilepsy |
icd11.foundation:1621154548 |
MONDO:equivalentTo |
Audiogenic epilepsy |
A reflex epilepsy with seizures induced by auditory triggering factors. Also defined musicogenic epilepsy, it includes voice-induced epilepsy, playing music epilepsy, singing epilepsy and telephone-induced epilepsy. The effective stimulus is complex, prolonged and associated with strong emotional feelings. Right temporal lobe is most commonly involved. Seizures are focal (with impaired awareness) and occasionally become bilaterally tonic-clonic. This category does not include lateral temporal lobe epilepsy with auditory features. |
MONDO:0017768 |
| MONDO:0972632 |
juvenile enthesitis related arthritis, hla b27 negative |
icd11.foundation:1622341053 |
MONDO:equivalentTo |
Juvenile enthesitis related arthritis, HLA B27 negative |
|
MONDO:0019437 |
| MONDO:0972633 |
acute vaginitis |
icd11.foundation:1623272374 |
MONDO:equivalentTo |
Acute vaginitis |
|
MONDO:0002234 |
| MONDO:0972634 |
tumour necrosis factor receptor 1 associated periodic syndrome with amyloidosis |
icd11.foundation:1623292763 |
MONDO:equivalentTo |
Tumour necrosis factor receptor 1 associated periodic syndrome with amyloidosis |
|
MONDO:0007727 |
| MONDO:0972635 |
tetralogy of fallot with pulmonary stenosis |
icd11.foundation:1623463759 |
MONDO:equivalentTo |
Tetralogy of Fallot with pulmonary stenosis |
|
MONDO:0008542 |
| MONDO:0972636 |
skeletal fluorosis, vertebral column |
icd11.foundation:162350215 |
MONDO:equivalentTo |
Skeletal fluorosis, vertebral column |
|
MONDO:0400003 |
| MONDO:0972637 |
frontotemporal dementia with familial inclusion body myopathy with pagets disease of bone |
icd11.foundation:1623731956 |
MONDO:equivalentTo |
Frontotemporal dementia with familial inclusion body myopathy with Pagets disease of bone |
Frontotemporal dementia associated with the VCP mutation. Associated symptoms include muscle weakness, due to myositis, as well as deformity, pain, and nerve compression due to bone disease. |
MONDO:0017276 |
| MONDO:0972638 |
calculus of bile duct with cholecystitis |
icd11.foundation:1623827724 |
MONDO:equivalentTo |
Calculus of bile duct with cholecystitis |
Stones in bile duct present with inflammation of gallbladder wall. |
MONDO:0012672 |
| MONDO:0972639 |
complete cryptophthalmia, bilateral |
icd11.foundation:1624951445 |
MONDO:equivalentTo |
Complete cryptophthalmia, bilateral |
|
MONDO:0020360 |
| MONDO:0972640 |
squamous cell carcinoma of skin of penis |
icd11.foundation:1625117655 |
MONDO:equivalentTo |
Squamous cell carcinoma of skin of penis |
|
MONDO:0018352 |
| MONDO:0972641 |
corneal ghost vessels |
icd11.foundation:1625183093 |
MONDO:equivalentTo |
corneal ghost vessels |
|
MONDO:0006713 |
| MONDO:0972642 |
anaplastic large cell medulloblastoma |
icd11.foundation:1625424542 |
MONDO:equivalentTo |
Anaplastic large cell medulloblastoma |
Anaplastic large cell medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and higher clinical risk factors of metastatic disease and manifesting with symptoms (due to intracranial pressure) such as vomiting, headache, listlessness, papilledema and diplopia. |
MONDO:0007959 |
| MONDO:0972643 |
cluster of differentiation 19 deficiency |
icd11.foundation:162628921 |
MONDO:equivalentTo |
Cluster of differentiation 19 deficiency |
|
MONDO:0015517 |
| MONDO:0972644 |
karyotype 46, x iso xq |
icd11.foundation:1626557438 |
MONDO:equivalentTo |
Karyotype 46, X iso Xq |
A disease affecting females, caused by one of the two X chromosomes consisting of two q arms, which are structurally identical and contain the same genes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. This disease may be differentiated from classical Turner Syndrome by a near complete lack of gonadal development, resulting in a lack of menstruation or breast development. Confirmation is through observation of an iso Xq chromosome by karyotyping. |
MONDO:0019499 |
| MONDO:0972645 |
tibio-fibular synostosis, bilateral |
icd11.foundation:1626793750 |
MONDO:equivalentTo |
Tibio-fibular synostosis, bilateral |
|
MONDO:0017467 |
| MONDO:0972646 |
pyruvate dehydrogenase complex e2 subunit deficiency |
icd11.foundation:1626957624 |
MONDO:equivalentTo |
Pyruvate dehydrogenase complex E2 subunit deficiency |
Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. |
MONDO:0019169 |
| MONDO:0972647 |
non-acquired central diabetes insipidus |
icd11.foundation:1627007407 |
MONDO:equivalentTo |
Non-acquired central diabetes insipidus |
Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, ) characterised by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. |
MONDO:0015790 |
| MONDO:0972648 |
juvenile polymyositis, necrotising |
icd11.foundation:1627905326 |
MONDO:equivalentTo |
Juvenile polymyositis, necrotising |
Juvenile necrotizing polymyositis is an early-onset immune inflammatory muscle disorders characterised by high CK level, moderate to severe muscle weakness of acute or subacute onset and with histological features of muscle fibre necrosis mediated by macrophages as the main effector cell. There are no T cell infiltrates or MHC-I expression. However, some patients have antibodies against signal recognition particles (SRP). |
MONDO:0019734 |
| MONDO:0972649 |
normokalaemic periodic paralysis |
icd11.foundation:1628032239 |
MONDO:equivalentTo |
Normokalaemic periodic paralysis |
|
MONDO:0008224 |
| MONDO:0972650 |
distal duplications of the long arm of chromosome 5 |
icd11.foundation:162805078 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 5 |
|
MONDO:0016956 |
| MONDO:0972651 |
tuberculosis of adenoids |
icd11.foundation:162865271 |
MONDO:equivalentTo |
Tuberculosis of adenoids |
|
MONDO:0957462 |
| MONDO:0972652 |
deletions of chromosome 9 |
icd11.foundation:1629195517 |
MONDO:equivalentTo |
Deletions of chromosome 9 |
|
MONDO:0020054 |
| MONDO:0972653 |
minimal change glomerulonephritis |
icd11.foundation:1629260860 |
MONDO:equivalentTo |
Minimal change glomerulonephritis |
|
MONDO:0005377 |
| MONDO:0972654 |
arthrogryposis - ophthalmoplegia - retinopathy |
icd11.foundation:162950585 |
MONDO:equivalentTo |
Arthrogryposis - ophthalmoplegia - retinopathy |
Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. |
MONDO:0019942 |
| MONDO:0972655 |
chronic mucopurulent inflammation |
icd11.foundation:1631528126 |
MONDO:equivalentTo |
Chronic mucopurulent inflammation |
|
MONDO:0004514 |
| MONDO:0972656 |
typhoid meningitis |
icd11.foundation:1631651468 |
MONDO:equivalentTo |
Typhoid meningitis |
|
MONDO:0006670 |
| MONDO:0972657 |
gonococcal bursitis, trunk |
icd11.foundation:1631699847 |
MONDO:equivalentTo |
Gonococcal bursitis, trunk |
|
MONDO:0001719 |
| MONDO:0972658 |
ruptured arteriovenous cavernous sinus aneurysm |
icd11.foundation:1631777115 |
MONDO:equivalentTo |
Ruptured arteriovenous cavernous sinus aneurysm |
|
MONDO:0019543 |
| MONDO:0972659 |
triphalangeal thumb - polysyndactyly syndrome |
icd11.foundation:1632019173 |
MONDO:equivalentTo |
Triphalangeal thumb - polysyndactyly syndrome |
Triphalangeal thumb-polysyndactyly syndrome is a hand-foot malformation characterised by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. |
MONDO:0017434 |
| MONDO:0972660 |
acute hereditary circumscribed oedema |
icd11.foundation:163283497 |
MONDO:equivalentTo |
Acute hereditary circumscribed oedema |
|
MONDO:0019623 |
| MONDO:0972661 |
capillary bronchitis |
icd11.foundation:1633771065 |
MONDO:equivalentTo |
Capillary bronchitis |
|
MONDO:0005249 |
| MONDO:0972662 |
myxolipoma of unspecified site |
icd11.foundation:1634240217 |
MONDO:equivalentTo |
Myxolipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0972663 |
keratoconus, stable |
icd11.foundation:1634662656 |
MONDO:equivalentTo |
Keratoconus, stable |
|
MONDO:0015486 |
| MONDO:0972664 |
mosaic 1q duplication |
icd11.foundation:1634756694 |
MONDO:equivalentTo |
Mosaic 1q duplication |
|
MONDO:0016952 |
| MONDO:0972665 |
gastric erosion |
icd11.foundation:1634855479 |
MONDO:equivalentTo |
Gastric erosion |
Gastric erosion represents a mucosal breach extending up to, but not through, the muscularis mucosa. Gastric erosion may constitute a phase of ulcer development or accompany some forms of gastric ulcer. |
MONDO:0001126 |
| MONDO:0972666 |
lipodystrophia centrifugalis abdominalis infantilis |
icd11.foundation:1635003601 |
MONDO:equivalentTo |
Lipodystrophia centrifugalis abdominalis infantilis |
|
MONDO:0019552 |
| MONDO:0972667 |
congenital fibrosis of extraocular muscles 2 |
icd11.foundation:1637103204 |
MONDO:equivalentTo |
Congenital fibrosis of extraocular muscles 2 |
|
MONDO:0007614 |
| MONDO:0972668 |
tuberculosis of lung, without mention of bacteriological or histological confirmation |
icd11.foundation:1637642348 |
MONDO:equivalentTo |
Tuberculosis of lung, without mention of bacteriological or histological confirmation |
This is a common, and in many cases lethal, infectious disease of the lung caused by various strains of mycobacteria, usually Mycobacterium tuberculosis. This diagnosis is without mention of bacteriological or histological confirmation. |
MONDO:0957462 |
| MONDO:0972669 |
visceral leishmaniasis due to leishmania infantum |
icd11.foundation:163897552 |
MONDO:equivalentTo |
Visceral leishmaniasis due to Leishmania infantum |
|
MONDO:0005445 |
| MONDO:0972670 |
paroxysmal non-kinesigenic dystonia |
icd11.foundation:1639073039 |
MONDO:equivalentTo |
Paroxysmal non-kinesigenic dystonia |
The attacks in Paroxysmal non-kinesigenic dyskinesia usually begin during childhood, with a mean age of ~8 years, but may start until early 20s. Attacks occur at rest and may be precipitated by alcohol, coffee, cola, tobacco, emotional excitement and fatigue. They are less frequent than Paroxysmal kinesigenic dyskinesia but last longer. The underlying genetic defect in some families is a mutation in the myofibrillogenesia regulator 1 gene. |
MONDO:0016058 |
| MONDO:0972671 |
acquired orbital cyst |
icd11.foundation:1639301709 |
MONDO:equivalentTo |
Acquired orbital cyst |
#DRAFT# This is an acquired closed sac, having a distinct membrane and division compared to the nearby tissue. It may contain air, fluids, or semi-solid material. This diagnosis is of the cavity or socket of the skull in which the eye and its appendages are situated. |
MONDO:0001915 |
| MONDO:0972672 |
pulmonary hypertension due to left heart disease |
icd11.foundation:1639609522 |
MONDO:equivalentTo |
Pulmonary hypertension due to left heart disease |
#DRAFT# This is an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, together known as the lung vasculature, leading to shortness of breath, dizziness, fainting, and other symptoms, all of which are exacerbated by exertion, due to left heart disease. |
MONDO:0005149 |
| MONDO:0972673 |
idiopathic aseptic osteonecrosis, lower leg |
icd11.foundation:1639657269 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, lower leg |
|
MONDO:0018380 |
| MONDO:0972674 |
tetralogy of fallot with absent pulmonary valve syndrome |
icd11.foundation:1640350515 |
MONDO:equivalentTo |
Tetralogy of Fallot with absent pulmonary valve syndrome |
A congenital cardiovascular malformation that is a variant of tetralogy of Fallot in which the ventriculo-arterial junction of the right ventricle with the pulmonary trunk features an atypical valve with absent or rudimentary leaflets (cusps) that do not coapt. |
MONDO:0008542 |
|
|
|
|
|
|
|
|
|
|
|
|
Additional information: in its usual form there is dilatation of the pulmonary trunk and central right and left pulmonary arteries, which when extreme, is associated with abnormal arborization of lobar and segmental pulmonary artery branches and with compression of the trachea and mainstem bronchi, often with tracheobronchomalacia. The physiologic consequence is usually a combination of variable degrees of both stenosis and regurgitation of the pulmonary valve. |
|
| MONDO:0972675 |
microlissencephaly type a |
icd11.foundation:164166454 |
MONDO:equivalentTo |
Microlissencephaly type A |
Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. |
MONDO:0015204 |
| MONDO:0972676 |
pleomorphic mantle cell lymphoma |
icd11.foundation:1641721417 |
MONDO:equivalentTo |
Pleomorphic mantle cell lymphoma |
|
MONDO:0018876 |
| MONDO:0972677 |
nephrosis - deafness - urinary tract - digital malformations |
icd11.foundation:1641858563 |
MONDO:equivalentTo |
Nephrosis - deafness - urinary tract - digital malformations |
Nephrosis - deafness - urinary tract - digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. |
MONDO:0019589 |
| MONDO:0972678 |
scarring alopecia |
icd11.foundation:1642258398 |
MONDO:equivalentTo |
Scarring alopecia |
Hair loss in which there is irreversible damage to the hair follicle from inflammation, infection, malignant infiltration or trauma, resulting in destruction of the follicle and repair by fibrosis. Regeneration does not occur once the follicle has been destroyed. |
MONDO:0004907 |
| MONDO:0972679 |
meningeal tuberculoma |
icd11.foundation:164227092 |
MONDO:equivalentTo |
Meningeal tuberculoma |
Meningeal tuberculomas are conglomerate caseous foci within the meninges of the brain, caused by dissemination of tuberculosis to the central nervous system. |
MONDO:0005696 |
| MONDO:0972680 |
lipid nephrosis |
icd11.foundation:1642749578 |
MONDO:equivalentTo |
Lipid nephrosis |
|
MONDO:0005377 |
| MONDO:0972681 |
secondary hypertension associated with renal parenchymal disease |
icd11.foundation:164359725 |
MONDO:equivalentTo |
Secondary hypertension associated with renal parenchymal disease |
Hypertension secondary to renal parenchymal disease caused by chronic glomerulonephritis, polycystic kidney disease and hypertensive nephrosclerosis. |
MONDO:0001200 |
| MONDO:0972682 |
allergic contact dermatitis organised by site |
icd11.foundation:1643733121 |
MONDO:equivalentTo |
Allergic contact dermatitis organised by site |
Allergic contact dermatitis organised by the body part affected. |
MONDO:0006525 |
| MONDO:0972683 |
disseminated strongyloidiasis |
icd11.foundation:1644559256 |
MONDO:equivalentTo |
Disseminated strongyloidiasis |
|
MONDO:0005974 |
| MONDO:0972684 |
tetralogy of fallot with pulmonary atresia |
icd11.foundation:1645917296 |
MONDO:equivalentTo |
Tetralogy of Fallot with pulmonary atresia |
A congenital cardiovascular malformation that is a variant of tetralogy of Fallot in which there is no direct communication between the right ventricle and the pulmonary arterial tree. |
MONDO:0008542 |
| MONDO:0972685 |
autoimmune polyendocrinopathy type 1 |
icd11.foundation:1646077225 |
MONDO:equivalentTo |
Autoimmune polyendocrinopathy type 1 |
Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. |
MONDO:0017278 |
| MONDO:0972686 |
secondary moyamoya |
icd11.foundation:1646322006 |
MONDO:equivalentTo |
Secondary moyamoya |
|
MONDO:0016820 |
| MONDO:0972687 |
periodic paralysis 3 |
icd11.foundation:1646349940 |
MONDO:equivalentTo |
Periodic paralysis 3 |
|
MONDO:0008223 |
| MONDO:0972688 |
dilatation of bronchus |
icd11.foundation:1646529472 |
MONDO:equivalentTo |
Dilatation of bronchus |
|
MONDO:0004822 |
| MONDO:0972689 |
long-standing persistent atrial fibrillation |
icd11.foundation:1646531494 |
MONDO:equivalentTo |
Long-standing persistent atrial fibrillation |
Persistent atrial fibrillation that has lasted for 1 year or more. |
MONDO:0004981 |
| MONDO:0972690 |
mucocutaneous behet disease |
icd11.foundation:1646728781 |
MONDO:equivalentTo |
Mucocutaneous Behet disease |
|
MONDO:0007191 |
| MONDO:0972691 |
hypertensive retinopathy, stage 3, haemorrhage, blot, dot, or flame-shaped, microaneurysm, cotton-wool spot, hard exudate, or combination of these signs |
icd11.foundation:1647311915 |
MONDO:equivalentTo |
Hypertensive Retinopathy, Stage 3, Haemorrhage, blot, dot, or flame-shaped, microaneurysm, cotton-wool spot, hard exudate, or combination of these signs |
|
MONDO:0006797 |
| MONDO:0972692 |
dementia due to creutzfeldt-jakob disease |
icd11.foundation:1647377490 |
MONDO:equivalentTo |
Dementia due to Creutzfeldt-Jakob disease |
|
MONDO:0007403 |
| MONDO:0972693 |
steroid resistant nephrotic syndrome |
icd11.foundation:1647994026 |
MONDO:equivalentTo |
Steroid resistant nephrotic syndrome |
Nephrotic syndrome which does not resolve on treatment with steroids as in steroid responsive nephrotic syndrome. This may be regarded as an indication for renal biopsy to establish the histological diagnosis. Histological diagnoses other than minimal change disease respond incompletely, slowly or not at all to steroids administered as for steroid responsive nephrotic syndrome. |
MONDO:0005377 |
| MONDO:0972694 |
plasma cell myeloma in complete remission |
icd11.foundation:1648906775 |
MONDO:equivalentTo |
Plasma cell myeloma in complete remission |
|
MONDO:0009693 |
| MONDO:0972695 |
drug-induced osteoporosis, head |
icd11.foundation:1650386080 |
MONDO:equivalentTo |
Drug-induced osteoporosis, head |
|
MONDO:0024650 |
| MONDO:0972696 |
gastrointestinal mucormycosis |
icd11.foundation:1650428681 |
MONDO:equivalentTo |
Gastrointestinal mucormycosis |
This is any fungal infection caused by fungi in the order Mucorales. Generally, species in the Mucor, Rhizopus, Absidia, and Cunninghamella genera are most often implicated. This disease is often characterised by hyphae growing in and around vessels. This diagnosis is gastrointestinal. |
MONDO:0019136 |
| MONDO:0972697 |
acute pleurisy |
icd11.foundation:1650953671 |
MONDO:equivalentTo |
Acute pleurisy |
|
MONDO:0000986 |
| MONDO:0972698 |
syphilitic panuveitis |
icd11.foundation:1651488006 |
MONDO:equivalentTo |
Syphilitic panuveitis |
|
MONDO:0017211 |
| MONDO:0972699 |
chronic duodenitis |
icd11.foundation:1652124895 |
MONDO:equivalentTo |
Chronic duodenitis |
|
MONDO:0004627 |
| MONDO:0972700 |
3-hydroxyacyl-coa dehydrogenase deficiencies |
icd11.foundation:1653126905 |
MONDO:equivalentTo |
3-hydroxyacyl-CoA dehydrogenase deficiencies |
This refers to deficiencies in an enzyme that belongs to the family of oxidoreductases, to be specific those acting on the CH-OH group of donor with NAD+ or NADP+ as acceptor. |
MONDO:0017713 |
| MONDO:0972701 |
chondromalacia, upper arm |
icd11.foundation:1654226971 |
MONDO:equivalentTo |
Chondromalacia, upper arm |
|
MONDO:0002342 |
| MONDO:0972702 |
acquired lymphopenia |
icd11.foundation:1654306762 |
MONDO:equivalentTo |
Acquired lymphopenia |
|
MONDO:0003783 |
| MONDO:0972703 |
juvenile psoriatic arthritis, pelvic region or thigh |
icd11.foundation:1655346872 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, pelvic region or thigh |
|
MONDO:0019436 |
| MONDO:0972704 |
spastic bilateral cerebral palsy |
icd11.foundation:1655375736 |
MONDO:equivalentTo |
Spastic bilateral cerebral palsy |
|
MONDO:0000396 |
| MONDO:0972705 |
proximal deletions of the short arm of chromosome 8 |
icd11.foundation:1656063235 |
MONDO:equivalentTo |
Proximal deletions of the short arm of chromosome 8 |
|
MONDO:0016890 |
| MONDO:0972706 |
purulent endocarditis |
icd11.foundation:1656202881 |
MONDO:equivalentTo |
Purulent endocarditis |
|
MONDO:0000565 |
| MONDO:0972707 |
glycogen storage disease due to liver glycogen phosphorylase deficiency |
icd11.foundation:1656693213 |
MONDO:equivalentTo |
Glycogen storage disease due to liver glycogen phosphorylase deficiency |
Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers disease, GSD 6b) is a benign and rare form of glycogen storage disease characterised by hepatomegaly and growth delay, with hypoglycaemic episodes being mild or absent. |
MONDO:0002412 |
| MONDO:0972708 |
cerebellar abscess |
icd11.foundation:1656744891 |
MONDO:equivalentTo |
Cerebellar abscess |
A focal suppurative infection in the cerebellum, typically surrounded by a vascularised capsule. Cerebritis describes a nonencapsulated brain abscess. The infective agent may be bacterial, fungal, or parasitic. The signs and symptoms are variable but typically present as an expanding mass lesion, over a variable period of time, with headache, fever, and a focal neurologic deficit. Seizures may occur. Diagnosis is made by neuroimaging. Microbiologic diagnosis is made by gram stain and culture of abscess material. |
MONDO:0000939 |
| MONDO:0972709 |
gamma aminobutyric acid transaminase deficiency |
icd11.foundation:1657261411 |
MONDO:equivalentTo |
Gamma aminobutyric acid transaminase deficiency |
Gamma aminobutyric acid transaminase (GABA-T) deficiency is an inborn error of GABA degradation. In the one reported family (with an affected brother and sister), it was characterised by severe psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures and electroencephalographic abnormalities, and growth acceleration. The disorder had an autosomal recessive inheritance and was caused by a homozygous mutation in the GABA-T gene in the reported family. |
MONDO:0017684 |
| MONDO:0972710 |
acute catarrhal laryngitis |
icd11.foundation:165801267 |
MONDO:equivalentTo |
Acute catarrhal laryngitis |
|
MONDO:0001369 |
| MONDO:0972711 |
psammomatous meningioma of unspecified site |
icd11.foundation:1658053163 |
MONDO:equivalentTo |
Psammomatous meningioma of unspecified site |
|
MONDO:0016642 |
| MONDO:0972712 |
frontotemporal dementia due to genetic mutation |
icd11.foundation:1658154282 |
MONDO:equivalentTo |
Frontotemporal dementia due to genetic mutation |
|
MONDO:0017276 |
| MONDO:0972713 |
von willebrand disease type 2 |
icd11.foundation:1658351780 |
MONDO:equivalentTo |
Von Willebrand disease type 2 |
Type 2 von Willebrand disease is a form of VWD characterised by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF). The type 2 disease accounts for between 20 and 45% of cases of VWD. Age of onset of the bleeding anomalies varies, with earlier onset being associated with more severe VWF deficiency. Four type 2 VWD subtypes have been described (types 2A, 2B, 2M and 2N). |
MONDO:0019565 |
| MONDO:0972714 |
acitretin embryofetopathy |
icd11.foundation:1658414910 |
MONDO:equivalentTo |
Acitretin embryofetopathy |
Acitretin embryofetopathy is a teratogenic disorder due to acitretin exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including craniofacial, ear, and cardiac malformations suggestive of retinoid embryopathy . |
MONDO:0016677 |
| MONDO:0972715 |
malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency |
icd11.foundation:1659163210 |
MONDO:equivalentTo |
Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency |
This condition is characterised by mildly or strongly elevated levels of the amino acid phenylalanine in the blood. This diagnosis is due to a rare metabolic disorder that increases the blood levels of phenylalanine. |
MONDO:0017756 |
| MONDO:0972716 |
skeletal fluorosis, pelvic region or thigh |
icd11.foundation:1659335089 |
MONDO:equivalentTo |
Skeletal fluorosis, pelvic region or thigh |
|
MONDO:0400003 |
| MONDO:0972717 |
groove pancreatitis |
icd11.foundation:1659526717 |
MONDO:equivalentTo |
Groove pancreatitis |
|
MONDO:0005003 |
| MONDO:0972718 |
hyperparathyroidism - jaw tumour syndrome |
icd11.foundation:1660894556 |
MONDO:equivalentTo |
Hyperparathyroidism - jaw tumour syndrome |
This refers to overactivity of the parathyroid glands resulting in excess production of parathyroid hormone (PTH), with jaw tumour syndrome. |
MONDO:0016365 |
| MONDO:0972719 |
congenital triplegia |
icd11.foundation:1661270667 |
MONDO:equivalentTo |
Congenital triplegia |
|
MONDO:0006497 |
| MONDO:0972720 |
deficiency of homoserine deaminase |
icd11.foundation:1661645707 |
MONDO:equivalentTo |
Deficiency of homoserine deaminase |
|
MONDO:0019222 |
| MONDO:0972721 |
tuberculosis of axillary lymph nodes |
icd11.foundation:1661742695 |
MONDO:equivalentTo |
Tuberculosis of axillary lymph nodes |
|
MONDO:0957461 |
| MONDO:0972722 |
lethal congenital contracture syndrome type 1 |
icd11.foundation:1662577564 |
MONDO:equivalentTo |
Lethal congenital contracture syndrome type 1 |
|
MONDO:0017436 |
| MONDO:0972723 |
plasma cell cheilitis |
icd11.foundation:1662697317 |
MONDO:equivalentTo |
Plasma cell cheilitis |
Plasma cell cheilitis is an idiopathic benign inflammatory condition characterised by dense plasma cell infiltrates in the lips. It presents as circumscribed flat or elevated erythematous patches, usually on the lower lip. |
MONDO:0002102 |
| MONDO:0972724 |
glycogen storage disease due to glycogen synthase deficiency |
icd11.foundation:1662745339 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen synthase deficiency |
|
MONDO:0002412 |
| MONDO:0972725 |
abscess of areola |
icd11.foundation:1662746677 |
MONDO:equivalentTo |
Abscess of areola |
|
MONDO:0000749 |
| MONDO:0972726 |
transient congenital hypothyroidism due to heterozygous mutations of thox2 |
icd11.foundation:1663592623 |
MONDO:equivalentTo |
Transient congenital hypothyroidism due to heterozygous mutations of THOX2 |
Defects in the thyroid oxidase 2 (THOX2) gene result in a lack of H2O2, which is a protein essential for thyroid hormone synthesis. Therefore, heterozygous mutations in this gene lead to transient congenital hypothyroidism. |
MONDO:0015792 |
| MONDO:0972727 |
mitochondrial myopathy with complex i deficiency |
icd11.foundation:1663944846 |
MONDO:equivalentTo |
Mitochondrial myopathy with complex I deficiency |
Complex I deficiency (reduced nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase) is the most common cause mitochondrial disorders. Although the clinical presentations and genetic etiologies are highly diverse due to genetic and biochemical complexity, some typical manifestations include progressive encephalomyopathy, leukodystrophy, Leigh syndrome, lactic acidosis, and stroke-like episodes. The identified genetic causes of complex I deficiency range from mutations in structure component encoding genes to assembly factor encoding genes, or various enzymes involved in production of electron carriers or maintenance of mitochondrial DNA integrity. |
MONDO:0009637 |
| MONDO:0972728 |
disorders of zinc metabolism |
icd11.foundation:1664496125 |
MONDO:equivalentTo |
Disorders of zinc metabolism |
Any condition caused by failure to correctly metabolize zinc. These conditions may present with dermatitis, diarrhoea, alopecia, loss of appetite, growth impairment, neuropsychological changes, or immune deficiency syndromes. |
MONDO:0017761 |
| MONDO:0972729 |
fatty tumour of unspecified site |
icd11.foundation:1664805616 |
MONDO:equivalentTo |
Fatty tumour of unspecified site |
|
MONDO:0005106 |
| MONDO:0972730 |
acinar cell cystadenoma of pancreas |
icd11.foundation:1664905891 |
MONDO:equivalentTo |
Acinar cell cystadenoma of pancreas |
|
MONDO:0021470 |
| MONDO:0972731 |
chronic obstructive pulmonary disease with acute exacerbation, unspecified |
icd11.foundation:1665365733 |
MONDO:equivalentTo |
Chronic obstructive pulmonary disease with acute exacerbation, unspecified |
An exacerbation of COPD is an acute event characterised by a worsening of the patients respiratory symptoms that is beyond normal day-to-day variations and leads to a change in medication. Exacerbations of COPD can be precipitated by several factors. The most common causes appear to be viral upper respiratory tract infections and infection of the tracheobronchial tree. The diagnosis of an exacerbation relies exclusively on the clinical presentation of the patient complaining of an acute change of symptoms (baseline dyspnoea, cough, and/or sputum production) that is beyond normal day-to-day variation. |
MONDO:0005002 |
| MONDO:0972732 |
chronic ulcerative colitis |
icd11.foundation:1665630624 |
MONDO:equivalentTo |
Chronic ulcerative colitis |
|
MONDO:0005101 |
| MONDO:0972733 |
cloverleaf skull syndrome |
icd11.foundation:1665700933 |
MONDO:equivalentTo |
Cloverleaf skull syndrome |
Cloverleaf skull is a rare malformation syndrome in which the head has a cloverleaf aspect. It is caused by the premature closure of several sutures and is apparent from birth. |
MONDO:0015469 |
| MONDO:0972734 |
dentinogenesis imperfecta type 1 |
icd11.foundation:1665867595 |
MONDO:equivalentTo |
Dentinogenesis imperfecta type 1 |
A hereditary disorder of tooth development, transmitted as an autosomal dominant trait, and characterised by discoloration of the teeth, ranging from dusky blue to brownish, poorly formed dentin with an abnormally low mineral content, obliteration of the pulp canal, and normal enamel. The teeth usually wear down rapidly, leaving short, brown stumps. Called also d. hypoplastic hereditaria, Capdepont-Hodge syndrome, Capdeponts syndrome, Fargin-Fayelle syndrome, hereditary dark teeth, hereditary opalescent dentin, hereditary opalescent teeth, odontogenesis imperfect, Stainton-Capdepont syndrome, and Stainton syndrome. Type 1 is related to cementogenesis imperfecta and osteogenesia imperfect. |
MONDO:0018849 |
| MONDO:0972735 |
volkmann-type congenital cataract |
icd11.foundation:1665900452 |
MONDO:equivalentTo |
Volkmann-type congenital cataract |
|
MONDO:0011060 |
| MONDO:0972736 |
multiple epiphyseal dysplasia type 6 |
icd11.foundation:1668653846 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia type 6 |
|
MONDO:0015627 |
| MONDO:0972737 |
x-linked hypophosphataemia |
icd11.foundation:1670813530 |
MONDO:equivalentTo |
X-linked hypophosphataemia |
X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterised by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. |
MONDO:0000044 |
| MONDO:0972738 |
drug-induced adrenocortical insufficiency |
icd11.foundation:1671007491 |
MONDO:equivalentTo |
Drug-induced adrenocortical insufficiency |
This is a condition in which the adrenal glands do not produce adequate amounts of steroid hormones, primarily cortisol; but may also include impaired production of aldosterone (a mineralocorticoid), which regulates sodium conservation, potassium secretion, and water retention. |
MONDO:0100480 |
| MONDO:0972739 |
secondary non-genetic disorders of methionine cycle or sulfur amino acid metabolism |
icd11.foundation:1671664154 |
MONDO:equivalentTo |
Secondary non-genetic disorders of methionine cycle or sulfur amino acid metabolism |
|
MONDO:0019222 |
| MONDO:0972740 |
hyperoxaluria non1-non2 type |
icd11.foundation:1671999567 |
MONDO:equivalentTo |
Hyperoxaluria non1-non2 type |
This is an excessive urinary excretion of oxalate. Individuals with hyperoxaluria often have calcium oxalate kidney stones. This diagnosis is non1-non2 type. |
MONDO:0017703 |
| MONDO:0972741 |
juvenile myelomonocytic leukaemia in complete remission |
icd11.foundation:1672730125 |
MONDO:equivalentTo |
Juvenile myelomonocytic leukaemia in complete remission |
|
MONDO:0011908 |
| MONDO:0972742 |
hereditary giant urticaria |
icd11.foundation:167365321 |
MONDO:equivalentTo |
Hereditary giant urticaria |
|
MONDO:0019623 |
| MONDO:0972743 |
polyosteoarthritis |
icd11.foundation:1673736911 |
MONDO:equivalentTo |
Polyosteoarthritis |
|
MONDO:0005178 |
| MONDO:0972744 |
body dysmorphic disorder with fair to good insight |
icd11.foundation:1674048969 |
MONDO:equivalentTo |
Body dysmorphic disorder with fair to good insight |
All definitional requirements of body dysmorphic disorder are met. Much of the time, the individual is able to entertain the possibility that his or her disorder-specific beliefs may not be true and is willing to accept an alternative explanation for his or her experience. At circumscribed times (e.g., when highly anxious), the individual may demonstrate no insight. |
MONDO:0000690 |
| MONDO:0972745 |
normosmic congenital hypogonadotropic hypogonadism |
icd11.foundation:1675702254 |
MONDO:equivalentTo |
Normosmic congenital hypogonadotropic hypogonadism |
This is a normosmic congenital condition which is characterised by hypogonadism due to an impaired secretion of gonadotropins, including follicle-stimulating hormone (FSH) and luteinizing hormone (LH), by the pituitary gland in the brain, and in turn decreased gonadotropin levels and a resultant lack of sex steroid production. |
MONDO:0015770 |
| MONDO:0972746 |
xanthinuria type 2 |
icd11.foundation:1675893580 |
MONDO:equivalentTo |
Xanthinuria type 2 |
Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterised by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. |
MONDO:0000721 |
| MONDO:0972747 |
deletions of chromosome 13 |
icd11.foundation:1676144143 |
MONDO:equivalentTo |
Deletions of chromosome 13 |
|
MONDO:0020054 |
| MONDO:0972748 |
portal-systemic encephalopathy |
icd11.foundation:1676574381 |
MONDO:equivalentTo |
Portal-systemic encephalopathy |
|
MONDO:0001711 |
| MONDO:0972749 |
postmenopausal osteoporosis, forearm |
icd11.foundation:1676667756 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, forearm |
|
MONDO:0008159 |
| MONDO:0972750 |
bladder neck obstruction as complication of surgical manipulations |
icd11.foundation:1677373719 |
MONDO:equivalentTo |
Bladder neck obstruction as complication of surgical manipulations |
This refers to a condition where the bladder neck does not open enough during voiding subsequent to surgical intervention. |
MONDO:0006679 |
| MONDO:0972751 |
deletions of chromosome 7 |
icd11.foundation:1678128915 |
MONDO:equivalentTo |
Deletions of chromosome 7 |
|
MONDO:0020054 |
| MONDO:0972752 |
myasthenia gravis, familial |
icd11.foundation:1678732111 |
MONDO:equivalentTo |
Myasthenia gravis, familial |
Family history is positive in 3-5% of Myasthenia Gravis (MG) patients. Most commonly affected patients are of the same generation. Age at onset 2-20 years. The clinical picture is similar to that of non-familial MG with ocular, oculobulbar or generalised MG. |
MONDO:0009688 |
|
|
|
|
|
In an Italian-American family with parental consanguinity where 5 out of 10 siblings had late-onset autoimmune MG manifesting with ptosis, diplopia, and weakness in the neck and extremities a homozygous sequence variant in the Ecto-NOX Disulfide-Thiol exchanger 1 (ENOX1) gene was found. |
|
| MONDO:0972753 |
polycythaemia due to phd2 mutation |
icd11.foundation:1678883156 |
MONDO:equivalentTo |
Polycythaemia due to PHD2 mutation |
|
MONDO:0007572 |
| MONDO:0972754 |
glaucoma in lowe syndrome |
icd11.foundation:1679073765 |
MONDO:equivalentTo |
Glaucoma in Lowe syndrome |
This is a term describing a group of ocular disorders with multi-factorial etiology united by a clinically characteristic intraocular pressure-associated optic neuropathy. This diagnosis is in a rare X-linked recessive disorder characterised by congenital cataracts, hypotonia and areflexia, mental retardation, proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria. |
MONDO:0010645 |
| MONDO:0972755 |
gynaecomastia |
icd11.foundation:1679667711 |
MONDO:equivalentTo |
Gynaecomastia |
|
MONDO:0001100 |
| MONDO:0972756 |
acute periprocedural myocardial infarction |
icd11.foundation:1679681893 |
MONDO:equivalentTo |
Acute periprocedural myocardial infarction |
Myocardial infarction associated with percutaneous coronary intervention (PCI, stent thrombosis, as documented by angiography or autopsy, coronary artery bypass grafting (CABG)). |
MONDO:0004781 |
| MONDO:0972757 |
endemic pemphigus foliaceus |
icd11.foundation:1681537638 |
MONDO:equivalentTo |
Endemic pemphigus foliaceus |
Endemic pemphigus foliaceus is a chronic autoimmune skin diseases characterised by superficial blister formation on the skin mediated by auto-antibodies to the desmosome component desmoglein 1. Endemic pemphigus foliaceus has unique epidemiological features of geographical, temporal and familial clustering. |
MONDO:0019324 |
| MONDO:0972758 |
arrest of spermatogenesis |
icd11.foundation:1681590394 |
MONDO:equivalentTo |
Arrest of spermatogenesis |
|
MONDO:0005372 |
| MONDO:0972759 |
medial deletions of the long arm of chromosome 7 |
icd11.foundation:1681951302 |
MONDO:equivalentTo |
Medial deletions of the long arm of chromosome 7 |
|
MONDO:0016906 |
| MONDO:0972760 |
limb-girdle muscular dystrophy 2n, pomt2 gene mutation |
icd11.foundation:1682388047 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2N, POMT2 gene mutation |
Limb-girdle muscular dystrophy-dystroglycanopathy (type C2; MDDGC2), previously designated limb-girdle muscular dystrophy type 2N (LGMD2N), is caused by homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. It is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. |
MONDO:0015152 |
| MONDO:0972761 |
long qt syndrome type 7 |
icd11.foundation:1684553772 |
MONDO:equivalentTo |
Long QT syndrome type 7 |
Cardiodysrythmic potassium-sensitive periodic paralysis or Andersen's syndrome is a rare muscular channelopathy characterised by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. |
MONDO:0008224 |
| MONDO:0972762 |
drug-induced serum sickness-like reaction |
icd11.foundation:1685139990 |
MONDO:equivalentTo |
Drug-induced serum sickness-like reaction |
|
MONDO:0016664 |
| MONDO:0972763 |
osteoarthritis of knee |
icd11.foundation:1685726407 |
MONDO:equivalentTo |
Osteoarthritis of knee |
Primary osteoarthritis occurring in an otherwise intact knee joint, involving genetically related, age-related or use-related degeneration with microscopic and macroscopic anatomical changes, which ultimately limit motion in one or more joints. Changes to the joint include increasing cartilage loss and osseous transformation such as sclerosis, osteophyte formation and cysts as well as potential inflammatory changes in surrounding soft tissue structures. |
MONDO:0005178 |
| MONDO:0972764 |
listerial endocarditis |
icd11.foundation:1686035373 |
MONDO:equivalentTo |
Listerial endocarditis |
|
MONDO:0000565 |
| MONDO:0972765 |
autism spectrum disorder with disorder of intellectual development and with absence of functional language |
icd11.foundation:1686726595 |
MONDO:equivalentTo |
Autism spectrum disorder with disorder of intellectual development and with absence of functional language |
All definitional requirements for both autism spectrum disorder and disorder of intellectual development are met and there is complete, or almost complete, absence of ability relative to the individuals age to use functional language (spoken or signed) for instrumental purposes, such as to express personal needs and desires |
MONDO:0005258 |
| MONDO:0972766 |
lysine metabolic disorder |
icd11.foundation:1686745474 |
MONDO:equivalentTo |
Lysine metabolic disorder |
|
MONDO:0017351 |
| MONDO:0972767 |
parasitic panuveitis |
icd11.foundation:1687053954 |
MONDO:equivalentTo |
Parasitic panuveitis |
|
MONDO:0017211 |
| MONDO:0972768 |
benign tumour of oral aspect of lip |
icd11.foundation:1687659361 |
MONDO:equivalentTo |
Benign tumour of oral aspect of lip |
|
MONDO:0021496 |
| MONDO:0972769 |
mechanical strabismus due to adhesions |
icd11.foundation:1688725898 |
MONDO:equivalentTo |
Mechanical strabismus due to adhesions |
|
MONDO:0004753 |
| MONDO:0972770 |
aleukaemic mast cell leukaemia |
icd11.foundation:1688839734 |
MONDO:equivalentTo |
Aleukaemic mast cell leukaemia |
|
MONDO:0020334 |
| MONDO:0972771 |
postmenopausal osteoporosis, ankle or foot |
icd11.foundation:1689004039 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, ankle or foot |
|
MONDO:0008159 |
| MONDO:0972772 |
ascending aorta aneurysm |
icd11.foundation:1689725604 |
MONDO:equivalentTo |
Ascending aorta aneurysm |
|
MONDO:0005396 |
| MONDO:0972773 |
taeniasis due to taenia saginata |
icd11.foundation:1689945769 |
MONDO:equivalentTo |
Taeniasis due to Taenia saginata |
A disease of the intestines, caused by an infection with the adult parasitic worm Taenia saginata. This disease is characterised by abdominal pain, weight loss, diarrhoea, constipation, or may be asymptomatic. Transmission is by ingestion of larval cysts in undercooked beef. Confirmation is by identification of Taenia saginata eggs or proglottids in faecal samples (samples from multiple days). |
MONDO:0000367 |
| MONDO:0972774 |
acute miliary tuberculosis, unspecified site |
icd11.foundation:1690351031 |
MONDO:equivalentTo |
Acute miliary tuberculosis, unspecified site |
|
MONDO:0005848 |
| MONDO:0972775 |
congenital digital clubbing, unilateral |
icd11.foundation:1690546258 |
MONDO:equivalentTo |
Congenital digital clubbing, unilateral |
|
MONDO:0007343 |
| MONDO:0972776 |
bicervical bicornuate uterus |
icd11.foundation:1691111436 |
MONDO:equivalentTo |
Bicervical bicornuate uterus |
|
MONDO:0015842 |
| MONDO:0972777 |
aneurysm of aortic arch |
icd11.foundation:1691151766 |
MONDO:equivalentTo |
Aneurysm of aortic arch |
|
MONDO:0005396 |
| MONDO:0972778 |
deafness - epiphyseal dysplasia - short stature |
icd11.foundation:1692558024 |
MONDO:equivalentTo |
Deafness - epiphyseal dysplasia - short stature |
Deafness - epiphyseal dysplasia - short stature syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). |
MONDO:0019589 |
| MONDO:0972779 |
combined immunodeficiency t+ b+ due to partial rag1 deficiency |
icd11.foundation:1692593795 |
MONDO:equivalentTo |
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency |
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; ) characterised by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. |
MONDO:0015131 |
| MONDO:0972780 |
frontotemporal dementia, language variant |
icd11.foundation:1693157226 |
MONDO:equivalentTo |
Frontotemporal dementia, language variant |
A clinical syndrome primarily affecting language. It is characterised by an insidious onset and gradual progressive impairment of language that affects activities of daily living. Aphasia should be the most prominent deficit during the initial phases of the disease. As the clinical syndrome progresses, other cognitive functions may be involved as well, but language remains the most impaired domain throughout the disease. |
MONDO:0017276 |
| MONDO:0972781 |
coronary atherosclerosis of non-autologous bypass graft |
icd11.foundation:1694252775 |
MONDO:equivalentTo |
Coronary atherosclerosis of non-autologous bypass graft |
Atherosclerotic lesions, or atherosclerotic plaques of non-autologous bypass graft. |
MONDO:0021661 |
| MONDO:0972782 |
sporadic parkinson disease |
icd11.foundation:169504799 |
MONDO:equivalentTo |
Sporadic Parkinson disease |
This is defined as Parkinson Disease occurring sporadically with no apparent mode of inheritance. |
MONDO:0005180 |
| MONDO:0972783 |
necrotic cholecystitis without calculus |
icd11.foundation:1695471516 |
MONDO:equivalentTo |
Necrotic cholecystitis without calculus |
|
MONDO:0043994 |
| MONDO:0972784 |
lipofibroma of unspecified site |
icd11.foundation:1696605515 |
MONDO:equivalentTo |
Lipofibroma of unspecified site |
|
MONDO:0005106 |
| MONDO:0972785 |
eclampsia in pregnancy |
icd11.foundation:1696606198 |
MONDO:equivalentTo |
Eclampsia in pregnancy |
This condition is characterised by seizure or convulsions newly arising in pregnancy. The condition is often associated with pregnancy-induced hypertension, convulsions, seizure, anxiety, epigastric pain, severe headache, blurred vision, proteinuria, and oedema that occurs during pregnancy. |
MONDO:0001754 |
| MONDO:0972786 |
tree allergy with asthma |
icd11.foundation:169661808 |
MONDO:equivalentTo |
Tree allergy with asthma |
|
MONDO:0004784 |
| MONDO:0972787 |
diabetes mellitus, type unspecified |
icd11.foundation:1697306310 |
MONDO:equivalentTo |
Diabetes mellitus, type unspecified |
|
MONDO:0005015 |
| MONDO:0972788 |
adrenal gland haemorrhage |
icd11.foundation:1697476647 |
MONDO:equivalentTo |
Adrenal gland haemorrhage |
|
MONDO:0000004 |
| MONDO:0972789 |
avellino corneal dystrophy |
icd11.foundation:1697722697 |
MONDO:equivalentTo |
Avellino corneal dystrophy |
|
MONDO:0018102 |
| MONDO:0972790 |
juvenile psoriatic arthritis, vertebral column |
icd11.foundation:1698721599 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, vertebral column |
|
MONDO:0019436 |
| MONDO:0972791 |
seropositive rheumatoid arthritis |
icd11.foundation:1698769251 |
MONDO:equivalentTo |
Seropositive rheumatoid arthritis |
|
MONDO:0008383 |
| MONDO:0972792 |
tropical pyomyositis |
icd11.foundation:169932128 |
MONDO:equivalentTo |
Tropical pyomyositis |
|
MONDO:0016127 |
| MONDO:0972793 |
mannosyltransferase 6 deficiency |
icd11.foundation:1699521762 |
MONDO:equivalentTo |
Mannosyltransferase 6 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Id is characterised by severe psychomotor delay, seizures, hypotonia, facial dysmorphism, microcephaly and ocular anomalies. It has been described in five children. The syndrome is caused by mutations in the ALG3 gene (localised to the q27 region of chromosome 3) leading to a deficiency of one of the endoplasmic reticulum mannosyltransferases (dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase). |
MONDO:0017740 |
| MONDO:0972794 |
obstructive paraurethral ducts anomaly |
icd11.foundation:1699570176 |
MONDO:equivalentTo |
Obstructive paraurethral ducts anomaly |
|
MONDO:0018559 |
| MONDO:0972795 |
thoracic endometriosis |
icd11.foundation:1700220656 |
MONDO:equivalentTo |
Thoracic endometriosis |
Thoracic endometriosis lesions can affect the diaphragm, pleura, lung and bronchi. There may be a greater affinity for the right hemi thorax, and the parenchyma is more commonly affected in the lower lobes. Macroscopically, the endometriotic implants appear as brownyellow and sometimes red nodules surrounded by neovascularization. Symptoms include: dyspnea, shortness of breath, rapid heartbeat, coughing up blood and a variety of pain patterns to include scapula, chest, ipsilateral neck and shoulder, upper abdominal and epigastric. Thoracic endometriosis may present with catamenial pneumothorax (recurrent pneumothorax occurring within 72 hours of menstruation), haemoptysis in case of bronchial location, haemothorax, pericardial effusions. A diagnosis of thoracic endometriosis is simple when both endometrial stroma and gland are present. In cases of endometriosis with stroma only, a further classification of aggregated pattern, in which immunohistochemistry is ER-, PR- and CD10-positive might be necessary for diagnosis. |
MONDO:0005133 |
| MONDO:0972796 |
spherocytic elliptocytosis |
icd11.foundation:1700407055 |
MONDO:equivalentTo |
Spherocytic elliptocytosis |
|
MONDO:0017319 |
| MONDO:0972797 |
encephalomyopathic mitochondrial dna depletion syndrome with methylmalonic aciduria |
icd11.foundation:1700584252 |
MONDO:equivalentTo |
Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. |
MONDO:0016796 |
| MONDO:0972798 |
trichinosis due to trichinella murelli |
icd11.foundation:1701421116 |
MONDO:equivalentTo |
Trichinosis due to Trichinella murelli |
|
MONDO:0019444 |
| MONDO:0972799 |
streptococcal laryngitis |
icd11.foundation:170169208 |
MONDO:equivalentTo |
Streptococcal laryngitis |
|
MONDO:0004777 |
| MONDO:0972800 |
pericardial calcification |
icd11.foundation:1702054843 |
MONDO:equivalentTo |
Pericardial calcification |
|
MONDO:0006711 |
| MONDO:0972801 |
arteriosclerotic congestive heart failure |
icd11.foundation:170291672 |
MONDO:equivalentTo |
Arteriosclerotic congestive heart failure |
|
MONDO:0021661 |
| MONDO:0972802 |
verbal apraxia |
icd11.foundation:1703207856 |
MONDO:equivalentTo |
Verbal apraxia |
|
MONDO:0000665 |
| MONDO:0972803 |
glomerular disorders in thrombotic thrombocytopenic purpura |
icd11.foundation:1703689495 |
MONDO:equivalentTo |
Glomerular disorders in thrombotic thrombocytopenic purpura |
This refers to a disorder of the tubular structure called the nephron filters blood to form urine, in a rare disorder of the blood-coagulation system, causing extensive microscopic clots to form in the small blood vessels throughout the body. |
MONDO:0018896 |
| MONDO:0972804 |
congestive heart failure nyha class i |
icd11.foundation:1703792511 |
MONDO:equivalentTo |
Congestive heart failure NYHA Class I |
|
MONDO:0005009 |
| MONDO:0972805 |
autoimmune limbic encephalitis, neural autoantibody positive |
icd11.foundation:1704108774 |
MONDO:equivalentTo |
Autoimmune limbic encephalitis, Neural autoantibody positive |
|
MONDO:0850097 |
| MONDO:0972806 |
maxillary fistula |
icd11.foundation:170510163 |
MONDO:equivalentTo |
Maxillary fistula |
|
MONDO:0001122 |
| MONDO:0972807 |
skeletal fluorosis, shoulder region |
icd11.foundation:1705292508 |
MONDO:equivalentTo |
Skeletal fluorosis, shoulder region |
|
MONDO:0400003 |
| MONDO:0972808 |
athabaskan brainstem dysgenesis syndrome |
icd11.foundation:1706255981 |
MONDO:equivalentTo |
Athabaskan brainstem dysgenesis syndrome |
Athabaskan brainstem dysgenesis is a central nervous system developmental anomaly characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. |
MONDO:0019589 |
| MONDO:0972809 |
systemic lupus erythematosus with multiple system involvement |
icd11.foundation:1706571781 |
MONDO:equivalentTo |
Systemic lupus erythematosus with multiple system involvement |
|
MONDO:0007915 |
| MONDO:0972810 |
teratoma of undescended testis |
icd11.foundation:1706977572 |
MONDO:equivalentTo |
Teratoma of undescended testis |
|
MONDO:0021282 |
| MONDO:0972811 |
chronic obstructive pulmonary disease, unspecified, severe airflow limitation |
icd11.foundation:170710808 |
MONDO:equivalentTo |
Chronic obstructive pulmonary disease, unspecified, severe airflow limitation |
Chronic obstructive pulmonary disease (COPD), unspecified, with severe airflow limitation, 30% equal to or less than FEV1 less than 50% predicted (post bronchodilator FEV1). |
MONDO:0005002 |
| MONDO:0972812 |
fibular aplasia - ectrodactyly |
icd11.foundation:1707230506 |
MONDO:equivalentTo |
Fibular aplasia - ectrodactyly |
Fibular aplasia - ectrodactyly syndrome is characterised by fibular aplasia and ectrodactyly. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. |
MONDO:0017433 |
| MONDO:0972813 |
male pattern hair loss |
icd11.foundation:1707380076 |
MONDO:equivalentTo |
Male pattern hair loss |
Male pattern hair loss (common baldness; male androgenetic alopecia) is the result of a progressive, patterned hair loss mediated by exposure to androgens. Although over 90% of men demonstrate some degree of frontoparietal recession of the hairline by the age of 20, the extent of hair loss is genetically determined and only 30% of men ever develop extensive hair loss. |
MONDO:0004907 |
| MONDO:0972814 |
conductive deafness - ptosis - skeletal anomalies |
icd11.foundation:1707474724 |
MONDO:equivalentTo |
Conductive deafness - ptosis - skeletal anomalies |
|
MONDO:0019287 |
| MONDO:0972815 |
periorificial tuberculosis |
icd11.foundation:1707607718 |
MONDO:equivalentTo |
Periorificial tuberculosis |
Orificial or periorificial tuberculosis results from autoinoculation of M. tuberculosis in individuals with impaired immunity and advanced internal tuberculosis (especially pulmonary or intestinal). It presents as one or more undermined ulcers within or around a natural body orifice. |
MONDO:0021948 |
| MONDO:0972816 |
congenital fibrosis of extraocular muscles 3a |
icd11.foundation:1707890892 |
MONDO:equivalentTo |
Congenital fibrosis of extraocular muscles 3A |
|
MONDO:0007614 |
| MONDO:0972817 |
protracted bacterial bronchitis |
icd11.foundation:1708025148 |
MONDO:equivalentTo |
Protracted bacterial bronchitis |
Protracted bacterial bronchitis (PBB) is a disease caused by the chronic infection of the conducting airways. The condition causes a persistent wet cough lasting more than four weeks that responds to antibiotic treatment. |
MONDO:0005607 |
| MONDO:0972818 |
juvenile idiopathic oligoarthritis, onset extended |
icd11.foundation:1708331758 |
MONDO:equivalentTo |
Juvenile idiopathic oligoarthritis, onset extended |
Onset extended refers to the fact that after the initial six month period, the total number of affected joints exceeds four. |
MONDO:0019433 |
| MONDO:0972819 |
pulmonary fibrosis due to chronic paracoccidioidomycosis |
icd11.foundation:1708416927 |
MONDO:equivalentTo |
Pulmonary fibrosis due to chronic paracoccidioidomycosis |
Persistence of pulmonary dysfunction despite prolonged and successful antifungal therapy. Distortion of the pulmonary parenchyma, lung fibrosis and bullae can be demonstrated radiologically. |
MONDO:0005894 |
| MONDO:0972820 |
chondromalacia, lower leg |
icd11.foundation:1708802928 |
MONDO:equivalentTo |
Chondromalacia, lower leg |
|
MONDO:0002342 |
| MONDO:0972821 |
venous thromboembolism originating from vena cava |
icd11.foundation:1709504857 |
MONDO:equivalentTo |
Venous thromboembolism originating from vena cava |
|
MONDO:0005399 |
| MONDO:0972822 |
juvenile psoriatic arthritis, shoulder region |
icd11.foundation:1709790685 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, shoulder region |
|
MONDO:0019436 |
| MONDO:0972823 |
other genetic disorders of folate transport or metabolism |
icd11.foundation:1709873077 |
MONDO:equivalentTo |
Other genetic disorders of folate transport or metabolism |
|
MONDO:0017313 |
| MONDO:0972824 |
acquired immunodeficiency due to loss of immunoglobulin |
icd11.foundation:1709907983 |
MONDO:equivalentTo |
Acquired immunodeficiency due to loss of immunoglobulin |
Acquired immunodeficiency due to loss of immunoglobulins (protein loss) may occur via the GI tract (protein losing enteropathy), via the kidney (nephrotic syndrome) or via the skin (in severe skin damage). |
MONDO:0017769 |
| MONDO:0972825 |
disorders of chloride metabolism |
icd11.foundation:1710037621 |
MONDO:equivalentTo |
Disorders of chloride metabolism |
|
MONDO:0017761 |
| MONDO:0972826 |
dementia due to psychoactive substances including medications |
icd11.foundation:1710319105 |
MONDO:equivalentTo |
Dementia due to psychoactive substances including medications |
Dementia due to psychoactive substances including medications includes forms of dementia that are judged to be a direct consequence of substance use and that persist beyond the usual duration of action or withdrawal syndrome associated with the substance. The amount and duration of substance use must be sufficient to produce the cognitive impairment. The cognitive impairment is not better accounted for by a disorder that is not induced by substances such as a dementia due to another medical condition. |
MONDO:0001627 |
| MONDO:0972827 |
simple or mucopurulent chronic bronchitis |
icd11.foundation:1710791237 |
MONDO:equivalentTo |
Simple or mucopurulent chronic bronchitis |
Simple chronic bronchitis is characterised by mucoid sputum production, while the chronic mucopurulent bronchitis comes with a persistent purulent sputum production but without any localised diseases. |
MONDO:0005607 |
| MONDO:0972828 |
juvenile psoriatic arthritis, ana positive |
icd11.foundation:171102429 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, ANA positive |
|
MONDO:0019436 |
| MONDO:0972829 |
typhoid osteomyelitis |
icd11.foundation:1711457761 |
MONDO:equivalentTo |
Typhoid osteomyelitis |
|
MONDO:0005619 |
| MONDO:0972830 |
cysteinylglycinase deficiency |
icd11.foundation:1711477495 |
MONDO:equivalentTo |
Cysteinylglycinase deficiency |
|
MONDO:0019241 |
| MONDO:0972831 |
carcinosarcoma of uterus |
icd11.foundation:1711927798 |
MONDO:equivalentTo |
Carcinosarcoma of uterus |
|
MONDO:0004321 |
| MONDO:0972832 |
plasma cell leukaemia in complete remission |
icd11.foundation:1712340153 |
MONDO:equivalentTo |
Plasma cell leukaemia in complete remission |
|
MONDO:0018689 |
| MONDO:0972833 |
hemosiderin in old cornea scars |
icd11.foundation:1712420006 |
MONDO:equivalentTo |
Hemosiderin in old cornea scars |
|
MONDO:0001308 |
| MONDO:0972834 |
idiopathic aseptic osteonecrosis, trunk |
icd11.foundation:171269627 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, trunk |
|
MONDO:0018380 |
| MONDO:0972835 |
thymidine phosphorylase deficiency |
icd11.foundation:1713233288 |
MONDO:equivalentTo |
Thymidine phosphorylase deficiency |
This refers to deficiency in an enzyme that belongs to the family of glycosyltransferases, specifically the pentosyltransferases. |
MONDO:0019238 |
| MONDO:0972836 |
familial hyperaldosteronism type 3 |
icd11.foundation:1713452924 |
MONDO:equivalentTo |
Familial hyperaldosteronism type 3 |
Type 3 familial aldosteronism displays particularly high aldosterone production and also a poor response to full doses of several classes of antihypertensive drugs, including spironolactone and amiloride. The genetic basis is debated. |
MONDO:0016525 |
| MONDO:0972837 |
papillary squamous cell carcinoma of oropharynx |
icd11.foundation:1713603210 |
MONDO:equivalentTo |
Papillary squamous cell carcinoma of oropharynx |
|
MONDO:0044704 |
| MONDO:0972838 |
alzheimer disease without dementia |
icd11.foundation:171377735 |
MONDO:equivalentTo |
Alzheimer disease without dementia |
|
MONDO:0004975 |
| MONDO:0972839 |
alopecia areata of beard |
icd11.foundation:1713879023 |
MONDO:equivalentTo |
Alopecia areata of beard |
Alopecia areata affecting the beard area |
MONDO:0005340 |
| MONDO:0972840 |
immature cortical cataract |
icd11.foundation:1713896875 |
MONDO:equivalentTo |
Immature cortical cataract |
|
MONDO:0045051 |
| MONDO:0972841 |
borderline tuberculoid leprosy |
icd11.foundation:1713999823 |
MONDO:equivalentTo |
Borderline tuberculoid leprosy |
Borderline tuberculoid (BT) leprosy is similar to polar (TT) tuberculoid leprosy but lesions are smaller and more numerous and nerves are less enlarged. Nerve damage is common [Dermatology TAG]. |
MONDO:0041752 |
| MONDO:0972842 |
symbrachydactyly of hands or feet, bilateral |
icd11.foundation:171481799 |
MONDO:equivalentTo |
Symbrachydactyly of hands or feet, bilateral |
|
MONDO:0015516 |
| MONDO:0972843 |
polydactyly of fingers |
icd11.foundation:1715167731 |
MONDO:equivalentTo |
Polydactyly of fingers |
|
MONDO:0011348 |
| MONDO:0972844 |
pemphigus herpetiformis |
icd11.foundation:1716380485 |
MONDO:equivalentTo |
Pemphigus herpetiformis |
Pemphigus herpetiformis is a chronic autoimmune skin diseases characterised by papules and vesicles on the skin mediated by auto-antibodies to the desmosome components desmoglein 1 and more rarely desmoglein 3. |
MONDO:0019324 |
| MONDO:0972845 |
brucellosis due to brucella melitensis |
icd11.foundation:1716687275 |
MONDO:equivalentTo |
Brucellosis due to Brucella melitensis |
Brucella melitensis is non-motile, Gram-negative, aerobic, unencapsulated |
MONDO:0005683 |
|
|
|
|
|
cocci or short rods. Brucella melitensis is the most prevalent species causing human brucellosis, owing in part to difficulties in immunizing free-ranging goats and sheep. |
|
| MONDO:0972846 |
suppurative otitis media with myringitis |
icd11.foundation:1717909577 |
MONDO:equivalentTo |
Suppurative otitis media with myringitis |
|
MONDO:0005975 |
| MONDO:0972847 |
medial deletions of the long arm of chromosome 4 |
icd11.foundation:1718224399 |
MONDO:equivalentTo |
Medial deletions of the long arm of chromosome 4 |
|
MONDO:0016903 |
| MONDO:0972848 |
total anomalous pulmonary venous connection of the mixed type |
icd11.foundation:1719221652 |
MONDO:equivalentTo |
Total anomalous pulmonary venous connection of the mixed type |
A congenital cardiovascular malformation with total anomalous pulmonary venous connection at two or more levels (supracardiac, cardiac, or infracardiac). |
MONDO:0007130 |
| MONDO:0972849 |
acute myeloid leukaemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22), cbfb-myh11 |
icd11.foundation:1720169408 |
MONDO:equivalentTo |
Acute myeloid leukaemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22), CBFB-MYH11 |
|
MONDO:0020078 |
| MONDO:0972850 |
papillary pseudomucinous cystadenoma, borderline malignancy of ovary |
icd11.foundation:1722094866 |
MONDO:equivalentTo |
Papillary pseudomucinous cystadenoma, borderline malignancy of ovary |
|
MONDO:0008170 |
| MONDO:0972851 |
degenerative dementia |
icd11.foundation:1722135299 |
MONDO:equivalentTo |
Degenerative dementia |
|
MONDO:0001627 |
| MONDO:0972852 |
acute chikungunya virus disease, severe |
icd11.foundation:1722755804 |
MONDO:equivalentTo |
Acute Chikungunya virus disease, severe |
Acute, clinical case of laboratory-confirmed chikungunya presenting dysfunction of at least one organ or system that threatens life and requires hospitalization. |
MONDO:0017941 |
| MONDO:0972853 |
vasculitis associated with systemic disease |
icd11.foundation:1722917375 |
MONDO:equivalentTo |
Vasculitis associated with systemic disease |
Vasculitis that is associated with and may be secondary to (caused by) a systemic disease. The name (diagnosis) should have a prefix term specifying the systemic disease (e.g. rheumatoid vasculitis, lupus vasculitis, etc.).(Chapel Hill Consensus Conference, 2011) |
MONDO:0018882 |
| MONDO:0972854 |
limb-girdle muscular dystrophy 1a, myotilin myopathy |
icd11.foundation:172327936 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 1A, myotilin myopathy |
Autosomal dominant limb-girdle muscular dystrophy type 1A belongs to a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD 1A is characterised by dysarthria and has not been associated with cardiac problems, with onset in young adulthood. |
MONDO:0015151 |
| MONDO:0972855 |
diffuse primary cutaneous mucinosis |
icd11.foundation:1723545 |
MONDO:equivalentTo |
Diffuse primary cutaneous mucinosis |
Forms of primary cutaneous mucinosis in which there is diffuse infiltration of the dermis by mucin. |
MONDO:0002523 |
| MONDO:0972856 |
streptococcal nonbacterial thrombotic endocarditis |
icd11.foundation:1723682291 |
MONDO:equivalentTo |
Streptococcal nonbacterial thrombotic endocarditis |
|
MONDO:0000565 |
| MONDO:0972857 |
hypomaturation amelogenesis imperfecta |
icd11.foundation:1724039678 |
MONDO:equivalentTo |
Hypomaturation amelogenesis imperfecta |
|
MONDO:0019507 |
| MONDO:0972858 |
ehlers-danlos syndrome, classical type |
icd11.foundation:1724920772 |
MONDO:equivalentTo |
Ehlers-Danlos syndrome, classical type |
Ehlers-Danlos syndrome, classic type is a type of Ehlers-Danlos syndromes (EDS), a heterogeneous group of hereditary connective tissue diseases characterised by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility, and is characterised by the following major clinical diagnostic criteria: hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. |
MONDO:0020066 |
| MONDO:0972859 |
cortical sporadic creutzfeldt-jakob disease |
icd11.foundation:1724965250 |
MONDO:equivalentTo |
Cortical sporadic Creutzfeldt-Jakob Disease |
Cortical sporadic Creutzfeldt-Jakob disease (sCJD) is predominantly characterised by dementia. The accumulated prion protein is MM2 (MM2-cortical) and VV1 which means there is a type 1 abnormal prion protein with valine homozygote at codon 129 polymorphic site of prion protein gene. Ataxic sCJD is characterised by predominant ataxia and accumulation of MV2 or VV2. |
MONDO:0016079 |
| MONDO:0972860 |
accessory sinus abscess |
icd11.foundation:172534059 |
MONDO:equivalentTo |
Accessory sinus abscess |
|
MONDO:0006031 |
| MONDO:0972861 |
deletions of chromosome 21 |
icd11.foundation:1725516492 |
MONDO:equivalentTo |
Deletions of chromosome 21 |
|
MONDO:0020054 |
| MONDO:0972862 |
irritable bowel syndrome, constipation predominant |
icd11.foundation:1726061609 |
MONDO:equivalentTo |
Irritable bowel syndrome, constipation predominant |
This is a bowel pattern subtype of irritable bowel syndrome, characterised by alteration of bowel habits with constipation predominant. |
MONDO:0005052 |
| MONDO:0972863 |
acute antral gastric ulcer |
icd11.foundation:1726149974 |
MONDO:equivalentTo |
Acute antral gastric ulcer |
|
MONDO:0001126 |
| MONDO:0972864 |
acute chikungunya virus disease, typical |
icd11.foundation:1726833210 |
MONDO:equivalentTo |
Acute Chikungunya virus disease, typical |
1) Clinical criterion: Fever >38.5C (101.3F) and joint pain (Usually accompanied by exanthema, myalgia, back pain, headache and, occasionally, vomiting and diarrhoea [paediatric age gro]) (usually incapacitating) with acute onset and 2) Epidemiological criterion: resident or visitor in areas with local transmission of Chikungunya on the last 15 days. (suspect case for epidemiological surveillance) or 3) Laboratory criterion: confirmation by laboratory: PCR, serology, or viral culture (confirmed case for epidemiological surveillance) Duration: up to 3 weeks (21 days) from the beginning of symptoms. |
MONDO:0017941 |
| MONDO:0972865 |
encephalitis due to herpes simplex type 2 |
icd11.foundation:1726912581 |
MONDO:equivalentTo |
Encephalitis due to herpes simplex type 2 |
An inflammatory process of the brain, frequently with evidence of meningeal involvement, due to infection by Herpes simplex type 2 virus. The clinical manifestations are usually acute, but may be subacute, with fever and variable combinations of convulsions, impaired mental state, and focal deficits. The spinal fluid may show a cellular reaction and elevated protein. Diagnosis is by neuroimaging, spinal fluid analysis and culture, PCR, and serologic tests. |
MONDO:0012521 |
| MONDO:0972866 |
idiopathic aseptic osteonecrosis, upper arm |
icd11.foundation:1727589472 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, upper arm |
|
MONDO:0018380 |
| MONDO:0972867 |
immune-related type 1 diabetes mellitus |
icd11.foundation:1727622794 |
MONDO:equivalentTo |
Immune-related Type 1 diabetes mellitus |
This form, previously called insulin-dependent diabetes or juvenile-onset diabetes, accounts for 510% of diabetes and is due to cellular-mediated autoimmune destruction of the pancreatic -cells. Autoimmune markers include islet cell autoantibodies and autoantibodies to GAD (GAD65), insulin, the tyrosine phosphatases IA-2 and IA-2, and ZnT8. Type 1 diabetes is defined by the presence of one or more of these autoimmune markers. The disease has strong HLA associations, with linkage to the DQA and DQB genes. These HLA-DR/DQ alleles can be either predisposing or protective. The rate of -cell destruction is quite variable, being rapid in some individuals (mainly infants and children) and slow in others (mainly adults). |
MONDO:0005147 |
| MONDO:0972868 |
squamous cell carcinoma of lateral wall of oropharynx |
icd11.foundation:1727718883 |
MONDO:equivalentTo |
Squamous cell carcinoma of lateral wall of oropharynx |
|
MONDO:0044704 |
| MONDO:0972869 |
cote-katsantoni syndrome |
icd11.foundation:1727720851 |
MONDO:equivalentTo |
Cote-Katsantoni syndrome |
|
MONDO:0019287 |
| MONDO:0972870 |
hypertrophic actinic keratosis |
icd11.foundation:1728103643 |
MONDO:equivalentTo |
Hypertrophic actinic keratosis |
|
MONDO:0005173 |
| MONDO:0972871 |
syphilophobia |
icd11.foundation:172816459 |
MONDO:equivalentTo |
Syphilophobia |
|
MONDO:0001596 |
| MONDO:0972872 |
symptomatic form of duchenne muscular dystrophy in female carriers |
icd11.foundation:1728612144 |
MONDO:equivalentTo |
Symptomatic form of Duchenne muscular dystrophy in female carriers |
Duchenne muscular dystrophy in females carriers is characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Prevalence is unknown: Only a small percentage of female carriers have been reported to manifest these diseases (24% of female carriers from families with DMD. Symptomatic female carriers usually present later in life. Females with clinical features of DMD are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome (complete or partial absence of an X chromosome). The prognosis for symptomatic female carriers is variable, but the disease course tends to be milder in females than in males and progression is slow. |
MONDO:0010679 |
| MONDO:0972873 |
canthus abscess |
icd11.foundation:1729065386 |
MONDO:equivalentTo |
Canthus abscess |
|
MONDO:0002307 |
| MONDO:0972874 |
acute pericoronitis |
icd11.foundation:1729448001 |
MONDO:equivalentTo |
Acute pericoronitis |
|
MONDO:0006899 |
| MONDO:0972875 |
adult-onset still disease, forearm |
icd11.foundation:1729573830 |
MONDO:equivalentTo |
Adult-onset Still disease, forearm |
|
MONDO:0019355 |
| MONDO:0972876 |
schizoaffective disorder, multiple episodes |
icd11.foundation:1730029381 |
MONDO:equivalentTo |
Schizoaffective disorder, multiple episodes |
Schizoaffective disorder, multiple episodes should be used to identify individuals experiencing symptoms that meet the diagnostic requirements for Schizoaffective disorder and who have also previously experienced episodes during which diagnostic requirements for Schizoaffective disorder or Schizophrenia were met, with substantial remission of symptoms between episodes. Some attenuated symptoms may remain during period of remission, and remissions may have occurred in response to medication or other treatment. |
MONDO:0005487 |
| MONDO:0972877 |
necrotising enterocolitis of newborn, stage 3b |
icd11.foundation:173070181 |
MONDO:equivalentTo |
Necrotising enterocolitis of newborn, Stage 3B |
|
MONDO:0005313 |
| MONDO:0972878 |
cystathioninemia |
icd11.foundation:1730746903 |
MONDO:equivalentTo |
Cystathioninemia |
|
MONDO:0019222 |
| MONDO:0972879 |
congenital absence of thigh or lower leg with foot present, unilateral |
icd11.foundation:1730825310 |
MONDO:equivalentTo |
Congenital absence of thigh or lower leg with foot present, unilateral |
|
MONDO:0017442 |
| MONDO:0972880 |
calcific tendinitis, forearm |
icd11.foundation:1731158699 |
MONDO:equivalentTo |
Calcific tendinitis, forearm |
|
MONDO:0001903 |
| MONDO:0972881 |
oblique facial cleft |
icd11.foundation:1731246019 |
MONDO:equivalentTo |
Oblique facial cleft |
Cleft extending from angles of mouth to outer canthi of eyes following no line of embryonic fusion of facial processes |
MONDO:0015411 |
| MONDO:0972882 |
adenocarcinoma of lower third of oesophagus |
icd11.foundation:1732495111 |
MONDO:equivalentTo |
Adenocarcinoma of lower third of oesophagus |
|
MONDO:0005028 |
| MONDO:0972883 |
labioglossal paralysis |
icd11.foundation:1732704299 |
MONDO:equivalentTo |
Labioglossal paralysis |
|
MONDO:0020128 |
| MONDO:0972884 |
bronchial infection |
icd11.foundation:1732977394 |
MONDO:equivalentTo |
Bronchial infection |
|
MONDO:0003781 |
| MONDO:0972885 |
cervical irritation |
icd11.foundation:1733024563 |
MONDO:equivalentTo |
Cervical irritation |
|
MONDO:0002345 |
| MONDO:0972886 |
ambulatory plague |
icd11.foundation:1734198181 |
MONDO:equivalentTo |
Ambulatory plague |
|
MONDO:0019095 |
| MONDO:0972887 |
juvenile idiopathic oligoarthritis, onset persistent |
icd11.foundation:1734201115 |
MONDO:equivalentTo |
Juvenile idiopathic oligoarthritis, onset persistent |
Onset persistent refers to the fact that the child never has more than four joints involved throughout the course of the disease. |
MONDO:0019433 |
| MONDO:0972888 |
mucinous cystic neoplasm with low- or intermediate-grade intraepithelial neoplasia of gallbladder |
icd11.foundation:1734702708 |
MONDO:equivalentTo |
Mucinous cystic neoplasm with low- or intermediate-grade intraepithelial neoplasia of gallbladder |
|
MONDO:0021503 |
| MONDO:0972889 |
primary cholangitis |
icd11.foundation:1734787729 |
MONDO:equivalentTo |
Primary cholangitis |
|
MONDO:0004789 |
| MONDO:0972890 |
juvenile systemic arthritis, neck |
icd11.foundation:1734984764 |
MONDO:equivalentTo |
Juvenile systemic arthritis, neck |
|
MONDO:0019434 |
| MONDO:0972891 |
stickler syndrome type 4 |
icd11.foundation:1735024561 |
MONDO:equivalentTo |
Stickler syndrome type 4 |
Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome, found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with ophthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms |
MONDO:0019354 |
| MONDO:0972892 |
classical hodgkin lymphoma, nodular sclerosis, grade 2 |
icd11.foundation:1735859362 |
MONDO:equivalentTo |
Classical Hodgkin lymphoma, nodular sclerosis, grade 2 |
|
MONDO:0004665 |
| MONDO:0972893 |
lattice degeneration of retina |
icd11.foundation:1736115308 |
MONDO:equivalentTo |
Lattice degeneration of retina |
This is a disease of the eye where peripheral retina becomes atrophic in a lattice pattern and may develop tears / breaks / holes, which may further progress to retinal detachment. It is an important cause of retinal detachment in young myopic individuals. |
MONDO:0001451 |
| MONDO:0972894 |
mucolipidosis type 3 |
icd11.foundation:1736525440 |
MONDO:equivalentTo |
Mucolipidosis type 3 |
Mucolipidosis III (MLIII) or pseudo-Hurler-polydystrophy is an inborn error of metabolism clinically similar to Scheie's or Hurler-Scheie's mucopolysaccharidoses. Clinical manifestations include joint stiffness leading to the diagnosis during childhood, dysostosis multiplex and a less severe facial dysmorphism. Intelligence may be normal but most children have hearing difficulties. Corneal clouding appears as the disorder progresses. |
MONDO:0019248 |
| MONDO:0972895 |
abscess of vulva |
icd11.foundation:1736632543 |
MONDO:equivalentTo |
Abscess of vulva |
A condition of the vulva, caused by an infection with a bacterial, viral, or fungal source. This condition is characterised by a focal accumulation of purulent material in the vulva. This condition may present with pain and swelling of the vulva, pain on sexual intercourse, or fever. Confirmation is by gynaecological examination. |
MONDO:0007018 |
| MONDO:0972896 |
calculus of gallbladder or cystic duct with acute cholecystitis |
icd11.foundation:1737123431 |
MONDO:equivalentTo |
Calculus of gallbladder or cystic duct with acute cholecystitis |
Stones in gallbladder or cystic duct present with acute inflammation of the gall bladder wall typically follows the cystic duct obstruction by the stone. |
MONDO:0012672 |
| MONDO:0972897 |
acute pulpitis |
icd11.foundation:1737612969 |
MONDO:equivalentTo |
Acute pulpitis |
|
MONDO:0006937 |
| MONDO:0972898 |
classical hodgkin lymphoma, nodular sclerosis, cellular phase |
icd11.foundation:1737679922 |
MONDO:equivalentTo |
Classical Hodgkin lymphoma, nodular sclerosis, cellular phase |
|
MONDO:0004665 |
| MONDO:0972899 |
endophthalmitis in ascariasis |
icd11.foundation:1738183150 |
MONDO:equivalentTo |
Endophthalmitis in ascariasis |
This refers to an inflammation of the internal coats of the eye. This diagnosis is in a disease of humans caused by the parasitic roundworm Ascaris lumbricoides. |
MONDO:0024315 |
| MONDO:0972900 |
abortive plague |
icd11.foundation:1740127029 |
MONDO:equivalentTo |
Abortive plague |
|
MONDO:0019095 |
| MONDO:0972901 |
dental polyp |
icd11.foundation:1740151879 |
MONDO:equivalentTo |
Dental polyp |
|
MONDO:0006937 |
| MONDO:0972902 |
dipygus |
icd11.foundation:1740463625 |
MONDO:equivalentTo |
Dipygus |
A condition characterised as conjoined twins in which there is a single head and thorax with the pelvis and lower extremities duplicated. |
MONDO:0958083 |
| MONDO:0972903 |
achondrogenesis type 1b |
icd11.foundation:1740585991 |
MONDO:equivalentTo |
Achondrogenesis type 1B |
Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterised by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. |
MONDO:0019648 |
| MONDO:0972904 |
moderately severe haemophilia b |
icd11.foundation:1741015882 |
MONDO:equivalentTo |
Moderately severe haemophilia B |
Moderately severe haemophilia B is a form of haemophilia B (see this term) characterised by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Moderately severe haemophilia B accounts for around 30% of all cases of haemophilia B. The biological activity of factor IX is between 1% and 5%. Spontaneous haemorrhages are rare. Transmission is X-linked recessive and the disorder is caused by mutations in the F9 gene (Xq28) encoding coagulation factor IX. |
MONDO:0010604 |
| MONDO:0972905 |
mucormycosis of the cranial and peripheral nerves |
icd11.foundation:1741180629 |
MONDO:equivalentTo |
Mucormycosis of the cranial and peripheral nerves |
|
MONDO:0019136 |
| MONDO:0972906 |
spondylolysis, lumbosacral region |
icd11.foundation:1741567714 |
MONDO:equivalentTo |
Spondylolysis, lumbosacral region |
|
MONDO:0005541 |
| MONDO:0972907 |
chronic infantile neurological, cutaneous and articular syndrome |
icd11.foundation:1741624812 |
MONDO:equivalentTo |
Chronic infantile neurological, cutaneous and articular syndrome |
Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is an autoinflammatory syndrome characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. |
MONDO:0016168 |
| MONDO:0972908 |
homozygous hereditary elliptocytosis |
icd11.foundation:1742011130 |
MONDO:equivalentTo |
Homozygous hereditary elliptocytosis |
|
MONDO:0017319 |
| MONDO:0972909 |
endometriosis of the nervous system |
icd11.foundation:1742176750 |
MONDO:equivalentTo |
Endometriosis of the nervous system |
|
MONDO:0005133 |
| MONDO:0972910 |
partial agenesis of pericardium |
icd11.foundation:1742434564 |
MONDO:equivalentTo |
Partial agenesis of pericardium |
A congenital cardiac malformation in which the fibroserous pericardium is partly absent. |
MONDO:0017300 |
| MONDO:0972911 |
primary sclerosing cholangitis without cirrhosis |
icd11.foundation:1743067117 |
MONDO:equivalentTo |
Primary sclerosing cholangitis without cirrhosis |
Primary sclerosing cholangitis without cirrhosis is primary sclerosing cholangitis not complicated with liver cirrhosis. |
MONDO:0013433 |
| MONDO:0972912 |
polyneuropathy in pellagra |
icd11.foundation:1743067451 |
MONDO:equivalentTo |
Polyneuropathy in pellagra |
|
MONDO:0019975 |
| MONDO:0972913 |
thanatophoric dysplasia type i |
icd11.foundation:1743293343 |
MONDO:equivalentTo |
Thanatophoric dysplasia type I |
Thanatophoric dysplasia type 1 is a form of thanatophoric dysplasia characterised by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. |
MONDO:0017042 |
| MONDO:0972914 |
transposition of the great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction |
icd11.foundation:1744213081 |
MONDO:equivalentTo |
Transposition of the great arteries with concordant atrioventricular connections and ventricular septal defect and left ventricular outflow tract obstruction |
A congenital cardiovascular malformation in which the morphologically right atrium connects to the morphologically right ventricle, the morphologically left atrium connects to the morphologically left ventricle, the morphologically right ventricle connects to the aorta, the morphologically left ventricle connects to the pulmonary trunk, one or more ventricular septal defects are present, and left ventricular outflow tract obstruction is present. |
MONDO:0000153 |
| MONDO:0972915 |
mucinous cystic neoplasm of pancreas |
icd11.foundation:1744252272 |
MONDO:equivalentTo |
Mucinous cystic neoplasm of pancreas |
|
MONDO:0021470 |
| MONDO:0972916 |
tuberculous neuritis |
icd11.foundation:1744850806 |
MONDO:equivalentTo |
Tuberculous neuritis |
|
MONDO:0005696 |
| MONDO:0972917 |
hypertrichosis of lower eyelid |
icd11.foundation:1745432314 |
MONDO:equivalentTo |
Hypertrichosis of lower eyelid |
This refers to an abnormal amount of hair growth over the eyelid; extensive cases of hypertrichosis have informally been called werewolf syndrome, because the appearance is similar to the werewolf. Hypertrichosis can be either congenital (present at birth) or acquired later in life. |
MONDO:0001334 |
| MONDO:0972918 |
aml m5b |
icd11.foundation:174556288 |
MONDO:equivalentTo |
AML M5b |
|
MONDO:0007896 |
| MONDO:0972919 |
systemic lupus erythematosus with kidney involvement |
icd11.foundation:1746845302 |
MONDO:equivalentTo |
Systemic lupus erythematosus with kidney involvement |
|
MONDO:0007915 |
| MONDO:0972920 |
lymphangioleiomyomatosis associated with tuberous sclerosis complex |
icd11.foundation:1746892004 |
MONDO:equivalentTo |
Lymphangioleiomyomatosis associated with tuberous sclerosis complex |
This is a rare lung disease that results in a proliferation of disorderly smooth muscle growth (leiomyoma) throughout the lungs, in the bronchioles, alveolar septa, perivascular spaces, and lymphatics, resulting in the obstruction of small airways (leading to pulmonary cyst formation and pneumothorax) and lymphatics (leading to chylous pleural effusion). This diagnosis is associated with a rare multi-system genetic disease that causes non-malignant tumours to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. |
MONDO:0011705 |
| MONDO:0972921 |
saccular bronchiectasis |
icd11.foundation:1747410508 |
MONDO:equivalentTo |
Saccular bronchiectasis |
|
MONDO:0004822 |
| MONDO:0972922 |
acute myeloid leukaemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); rpn1-evi1 |
icd11.foundation:1747496011 |
MONDO:equivalentTo |
Acute myeloid leukaemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 |
An acute myeloid leukaemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) resulting in the expression of RPN1-EVI1 fusion protein. It may present de novo or follow a myelodysplastic syndrome. The clinical course is aggressive. |
MONDO:0020078 |
| MONDO:0972923 |
anomaly of retinal artery |
icd11.foundation:174766596 |
MONDO:equivalentTo |
Anomaly of retinal artery |
|
MONDO:0020247 |
| MONDO:0972924 |
sequelae of frostbite of multiple body regions |
icd11.foundation:1747683666 |
MONDO:equivalentTo |
Sequelae of frostbite of multiple body regions |
|
MONDO:0800177 |
| MONDO:0972925 |
osteoporosis, ribs |
icd11.foundation:1748636587 |
MONDO:equivalentTo |
Osteoporosis, ribs |
|
MONDO:0005298 |
| MONDO:0972926 |
certain specified rare variants of multiple sclerosis |
icd11.foundation:1749178244 |
MONDO:equivalentTo |
Certain specified rare variants of multiple sclerosis |
|
MONDO:0005301 |
| MONDO:0972927 |
isolated deficiency of pituitary hormone |
icd11.foundation:1749432547 |
MONDO:equivalentTo |
Isolated deficiency of pituitary hormone |
|
MONDO:0005152 |
| MONDO:0972928 |
paraneoplastic limbic encephalitis, neural autoantibody negative |
icd11.foundation:1749457812 |
MONDO:equivalentTo |
Paraneoplastic limbic encephalitis, neural autoantibody negative |
|
MONDO:0015589 |
| MONDO:0972929 |
olfactogenital dysplasia |
icd11.foundation:17497503 |
MONDO:equivalentTo |
Olfactogenital dysplasia |
|
MONDO:0005152 |
| MONDO:0972930 |
nephropathy - deafness - hyperparathyroidism |
icd11.foundation:1751642374 |
MONDO:equivalentTo |
Nephropathy - deafness - hyperparathyroidism |
Nephropathy - deafness - hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness |
MONDO:0019589 |
| MONDO:0972931 |
ulcerative endocarditis |
icd11.foundation:1752013490 |
MONDO:equivalentTo |
Ulcerative endocarditis |
|
MONDO:0000565 |
| MONDO:0972932 |
glycogenic rhabdomyoma |
icd11.foundation:17520823 |
MONDO:equivalentTo |
Glycogenic rhabdomyoma |
|
MONDO:0036688 |
| MONDO:0972933 |
eccrine hidrocystoma |
icd11.foundation:175216536 |
MONDO:equivalentTo |
Eccrine hidrocystoma |
|
MONDO:0006787 |
| MONDO:0972934 |
acute infective tonsillitis |
icd11.foundation:1752991130 |
MONDO:equivalentTo |
Acute infective tonsillitis |
|
MONDO:0020686 |
| MONDO:0972935 |
fibroblastic meningioma of unspecified site |
icd11.foundation:1753362949 |
MONDO:equivalentTo |
Fibroblastic meningioma of unspecified site |
|
MONDO:0016642 |
| MONDO:0972936 |
bursitis with unknown aetiology, forearm |
icd11.foundation:1753946773 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, forearm |
|
MONDO:0002471 |
| MONDO:0972937 |
erythema multiforme classified by aetiology |
icd11.foundation:175413833 |
MONDO:equivalentTo |
Erythema multiforme classified by aetiology |
|
MONDO:0006545 |
| MONDO:0972938 |
acth-independent cushing syndrome due to unilateral tumour |
icd11.foundation:1754799348 |
MONDO:equivalentTo |
ACTH-independent Cushing syndrome due to unilateral tumour |
This refers to an ACTH-independent condition with signs and symptoms associated with prolonged exposure to inappropriately high levels of the hormone cortisol. This diagnosis is due to unilateral tumour. |
MONDO:0020529 |
| MONDO:0972939 |
high output syndromes |
icd11.foundation:1754821737 |
MONDO:equivalentTo |
High output syndromes |
Increased cardiac output above normal associated with anaemia, arteriovenous fistulas, thyrotoxicosis and other syndromes. May result in heart failure. |
MONDO:0005252 |
| MONDO:0972940 |
chronic miliary lung tuberculosis |
icd11.foundation:1755009947 |
MONDO:equivalentTo |
Chronic miliary lung tuberculosis |
|
MONDO:0005848 |
| MONDO:0972941 |
inflammatory vaginitis |
icd11.foundation:1755113675 |
MONDO:equivalentTo |
Inflammatory vaginitis |
Clinical syndrome characterised by diffuse exudative vaginitis, epithelial cell exfoliation and a profuse purulent vaginal discharge, associated with vulvovaginal burning or irritation and dyspareunia. Signs may include vulvovaginal erythema and ecchymotic spots. |
MONDO:0002234 |
| MONDO:0972942 |
idiopathic aseptic osteonecrosis, ribs |
icd11.foundation:175576347 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, ribs |
|
MONDO:0018380 |
| MONDO:0972943 |
ex-vacuo hydrocephalus |
icd11.foundation:175641220 |
MONDO:equivalentTo |
Ex-vacuo hydrocephalus |
Hydrocephalus ex-vacuo occurs when there is damage to the brain caused by stroke, injury, or radiation, and there may be an actual shrinkage of brain substance. Although there is more CSF than usual, the CSF pressure itself is normal in hydrocephalus ex-vacuo. |
MONDO:0001150 |
| MONDO:0972944 |
acute disseminated encephalitis |
icd11.foundation:17566186 |
MONDO:equivalentTo |
Acute disseminated encephalitis |
|
MONDO:0019383 |
| MONDO:0972945 |
adenoma of retinal pigment epithelium |
icd11.foundation:175662396 |
MONDO:equivalentTo |
Adenoma of retinal pigment epithelium |
|
MONDO:0021453 |
| MONDO:0972946 |
permanent congenital hypothyroidism without goitre |
icd11.foundation:1756727158 |
MONDO:equivalentTo |
Permanent congenital hypothyroidism without goitre |
This is a permanent congenital state in which the thyroid gland does not make enough thyroid hormone. This diagnosis is without swelling of the thyroid gland. |
MONDO:0016408 |
| MONDO:0972947 |
hereditary allergic angioedema |
icd11.foundation:1756804012 |
MONDO:equivalentTo |
Hereditary allergic angioedema |
|
MONDO:0019623 |
| MONDO:0972948 |
sterol carrier protein deficiency |
icd11.foundation:1757012054 |
MONDO:equivalentTo |
Sterol carrier protein deficiency |
This refers to the deficiency of a family of proteins that transfer steroids and probably also phospholipids and gangliosides between cellular membranes. |
MONDO:0017753 |
| MONDO:0972949 |
deafness - skeletal dysplasia - lip granuloma |
icd11.foundation:1757651132 |
MONDO:equivalentTo |
Deafness - skeletal dysplasia - lip granuloma |
Deafness - skeletal dysplasia - lip granuloma syndrome is characterised by the association of deafness, intellectual deficit, facial dysmorphy, and skeletal abnormalities. |
MONDO:0019589 |
| MONDO:0972950 |
bartter syndrome with hypocalcaemia |
icd11.foundation:1757681822 |
MONDO:equivalentTo |
Bartter syndrome with hypocalcaemia |
This is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterised by low potassium levels (hypokalaemia), increased blood pH (alkalosis), and normal to low blood pressure in the presence of low serum calcium levels in the blood (hypocalcaemia), specifically less than 2.1 mmol/L or 9 mg/dl or an ionized calcium level of less than 1.1 mmol/L or 4.5 mg/dL. |
MONDO:0015231 |
| MONDO:0972951 |
distal deletions of the long arm of chromosome 5 |
icd11.foundation:1757747588 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 5 |
|
MONDO:0016904 |
| MONDO:0972952 |
typhoid enteritis |
icd11.foundation:1758228980 |
MONDO:equivalentTo |
Typhoid enteritis |
This refers to inflammation of the small intestine due to infection with bacteria, Salmonella typhi. |
MONDO:0005619 |
| MONDO:0972953 |
9q22.3 deletion |
icd11.foundation:17584690 |
MONDO:equivalentTo |
9q22.3 deletion |
Interstitial 9q22.3 microdeletion is a chromosomal anomaly associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features are also observed. |
MONDO:0016908 |
| MONDO:0972954 |
acute viral pharyngitis |
icd11.foundation:1758486982 |
MONDO:equivalentTo |
Acute viral pharyngitis |
|
MONDO:0020600 |
| MONDO:0972955 |
hydronephrosis with ureteropelvic junction obstruction with infection |
icd11.foundation:1758979353 |
MONDO:equivalentTo |
Hydronephrosis with ureteropelvic junction obstruction with infection |
|
MONDO:0021750 |
| MONDO:0972956 |
ulcer of pylorus |
icd11.foundation:1759201130 |
MONDO:equivalentTo |
Ulcer of pylorus |
|
MONDO:0001126 |
| MONDO:0972957 |
gastric phlegmon |
icd11.foundation:1759664954 |
MONDO:equivalentTo |
Gastric phlegmon |
A spreading diffuse inflammatory process with formation of suppurative/purulent exudate or pus in the gastric wall. It often develops to a defined pocket of pus, gastric abscess. This is mainly due to the result of acute inflammation by bacterial infection. |
MONDO:0004966 |
| MONDO:0972958 |
mesometric pregnancy |
icd11.foundation:1759864548 |
MONDO:equivalentTo |
Mesometric pregnancy |
|
MONDO:0000755 |
| MONDO:0972959 |
certain specified rare distal myopathy |
icd11.foundation:1760014100 |
MONDO:equivalentTo |
Certain specified rare distal myopathy |
Rare progressive genetic disorders characterised by wasting and weakness of the voluntary muscles of the distal extremities of upper and lower limbs. Although age of onset can occur anytime from infancy to adulthood, most forms develop later in life and are slowly progressive. Inheritance is autosomal dominant or recessive. |
MONDO:0018949 |
| MONDO:0972960 |
gastroduodenal ulcer |
icd11.foundation:1760691592 |
MONDO:equivalentTo |
Gastroduodenal ulcer |
|
MONDO:0001126 |
| MONDO:0972961 |
congenital amyotonia |
icd11.foundation:1762031176 |
MONDO:equivalentTo |
Congenital amyotonia |
|
MONDO:0018940 |
| MONDO:0972962 |
exposure keratitis due to exophthalmus |
icd11.foundation:1762053930 |
MONDO:equivalentTo |
Exposure keratitis due to exophthalmus |
|
MONDO:0004794 |
| MONDO:0972963 |
certain cholelithiasis |
icd11.foundation:1762517169 |
MONDO:equivalentTo |
Certain cholelithiasis |
This is a group of conditions that are associated with gallstone formation from bile that are not classified elsewhere. |
MONDO:0012672 |
| MONDO:0972964 |
bursitis with unknown aetiology, lower leg |
icd11.foundation:176362602 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, lower leg |
|
MONDO:0002471 |
| MONDO:0972965 |
hereditary cryohydrocytosis |
icd11.foundation:1764091350 |
MONDO:equivalentTo |
Hereditary cryohydrocytosis |
|
MONDO:0020102 |
| MONDO:0972966 |
congenital myopia |
icd11.foundation:1764828792 |
MONDO:equivalentTo |
Congenital myopia |
|
MONDO:0001384 |
| MONDO:0972967 |
cervicocolpitis |
icd11.foundation:1765384833 |
MONDO:equivalentTo |
Cervicocolpitis |
|
MONDO:0002345 |
| MONDO:0972968 |
acute respiratory failure, type ii |
icd11.foundation:1765820617 |
MONDO:equivalentTo |
Acute respiratory failure, Type II |
When acute respiratory failure causes a high level of carbon dioxide in the blood, it's called hypercapnic acute respiratory failure. |
MONDO:0001208 |
| MONDO:0972969 |
chronic multiple tuberculosis |
icd11.foundation:1767017038 |
MONDO:equivalentTo |
Chronic multiple tuberculosis |
|
MONDO:0005848 |
| MONDO:0972970 |
hodgkin granuloma |
icd11.foundation:1767366864 |
MONDO:equivalentTo |
Hodgkin granuloma |
|
MONDO:0009348 |
| MONDO:0972971 |
simple schizophrenia |
icd11.foundation:1767482926 |
MONDO:equivalentTo |
Simple schizophrenia |
A disorder in which there is an insidious but progressive development of oddities of conduct, inability to meet the demands of society, and decline in total performance. The characteristic negative features of residual schizophrenia (e.g. blunting of affect and loss of volition) develop without being preceded by any overt psychotic symptoms. |
MONDO:0005090 |
| MONDO:0972972 |
localised castleman disease |
icd11.foundation:1767858385 |
MONDO:equivalentTo |
Localised Castleman disease |
localised Castleman disease is the most common form of Castleman disease and it is usually asymptomatic or it may present with enlarged lymph nodes. |
MONDO:0015564 |
| MONDO:0972973 |
mannosyltransferase 2 deficiency |
icd11.foundation:1768777374 |
MONDO:equivalentTo |
Mannosyltransferase 2 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ii is characterised by severe psychomotor delay, seizures, bilateral colobomas of the iris, cataract, nystagmus and coagulation anomalies. To date, the syndrome has been reported in only one girl. It is associated with a mutation in the ALG2 gene (localised to the q22 region of chromosome 9) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,3-mannosyl transferase. |
MONDO:0017740 |
| MONDO:0972974 |
familial drusen |
icd11.foundation:1768933446 |
MONDO:equivalentTo |
Familial drusen |
These are tiny familial yellow or white accumulations of extracellular material that build up between Bruch's membrane and the retinal pigment epithelium of the eye. The presence of a few small ("hard") drusen is normal with advancing age, and most people over 40 have some hard drusen. However, the presence of larger and more numerous drusen in the macula is a common early sign of age-related macular degeneration (AMD). |
MONDO:0016420 |
| MONDO:0972975 |
xeroderma pigmentosum e |
icd11.foundation:1769061869 |
MONDO:equivalentTo |
Xeroderma pigmentosum E |
Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers. XPE patients present with mild XP symptoms and no neurological abnormalities. |
MONDO:0019600 |
| MONDO:0972976 |
fibrolipoma of unspecified site |
icd11.foundation:1769732094 |
MONDO:equivalentTo |
Fibrolipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0972977 |
proximal deletions of the short arm of chromosome 7 |
icd11.foundation:1771352880 |
MONDO:equivalentTo |
Proximal deletions of the short arm of chromosome 7 |
|
MONDO:0016889 |
| MONDO:0972978 |
epstein's nephrosis |
icd11.foundation:177156339 |
MONDO:equivalentTo |
Epstein's nephrosis |
|
MONDO:0005377 |
| MONDO:0972979 |
immunodeficiency due to purine nucleoside phosphorylase deficiency |
icd11.foundation:1771940876 |
MONDO:equivalentTo |
Immunodeficiency due to purine nucleoside phosphorylase deficiency |
Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anaemia, and 2/3 have neurological signs (ataxia, spastic tetraplegia and tremor). |
MONDO:0015131 |
| MONDO:0972980 |
congenital subglottic stenosis, grade 4 |
icd11.foundation:1772834386 |
MONDO:equivalentTo |
Congenital subglottic stenosis, grade 4 |
A condition characterised by 100% stenosis according to the Cotton-Meyer scale. |
MONDO:0015395 |
| MONDO:0972981 |
chapping of the lips |
icd11.foundation:1773105462 |
MONDO:equivalentTo |
Chapping of the lips |
Chapping of the lips occurs as a result of exposure to adverse environmental conditions, particularly freezing cold or hot dry winds. Desiccation of the vermilion results in soreness, cracking and scaling. |
MONDO:0002102 |
| MONDO:0972982 |
cauda equina syndrome due to spinal stenosis |
icd11.foundation:1773867695 |
MONDO:equivalentTo |
Cauda equina syndrome due to spinal stenosis |
|
MONDO:0005693 |
| MONDO:0972983 |
acrodysostosis with multiple hormone resistance |
icd11.foundation:1774073397 |
MONDO:equivalentTo |
Acrodysostosis with multiple hormone resistance |
|
MONDO:0019797 |
| MONDO:0972984 |
recessive hereditary methaemoglobinaemia type 2 |
icd11.foundation:1774491112 |
MONDO:equivalentTo |
Recessive hereditary methaemoglobinaemia type 2 |
Hemoglobin C disease is characterised by the synthesis of an abnormal haemoglobin called haemoglobin C (HbC), instead of the normal haemoglobin A (HbA). Subjects heterozygous for HbC (AC) are asymptomatic and may present with a mild microcytosis with an increased red blood cell resistance to haemolysis. Subjects homozygous for HbC (CC) have usually compensated haemolysis with splenomegaly. There is an increased risk of hypersplenism, biliary lithiasis, folate deficiency and worsening of anaemia following Parvovirus B19 infection. |
MONDO:0018963 |
| MONDO:0972985 |
multiple syringomata |
icd11.foundation:1774705970 |
MONDO:equivalentTo |
Multiple syringomata |
|
MONDO:0002191 |
| MONDO:0972986 |
mesenteric tuberculosis |
icd11.foundation:1774867184 |
MONDO:equivalentTo |
Mesenteric tuberculosis |
|
MONDO:0957466 |
| MONDO:0972987 |
hereditary persistence of fetal haemoglobin, non-deletional |
icd11.foundation:177515345 |
MONDO:equivalentTo |
Hereditary persistence of fetal haemoglobin, non-deletional |
|
MONDO:0018749 |
| MONDO:0972988 |
amoebic appendicitis |
icd11.foundation:1775228393 |
MONDO:equivalentTo |
Amoebic appendicitis |
|
MONDO:0005649 |
| MONDO:0972989 |
fibular aplasia - complex brachydactyly |
icd11.foundation:1776518998 |
MONDO:equivalentTo |
Fibular aplasia - complex brachydactyly |
Fibular aplasia - complex brachydactyly syndrome is characterised by severe reduction or absence of the fibula and complex brachydactyly. |
MONDO:0017433 |
| MONDO:0972990 |
extragenital granuloma inguinale |
icd11.foundation:177740802 |
MONDO:equivalentTo |
Extragenital granuloma inguinale |
Klebsiella granulomatis, the causative organism of granuloma inguinale, may rarely cause localised or disseminated infection of extragenital sites including lymph nodes and bone. |
MONDO:0005777 |
| MONDO:0972991 |
dementia due to lewy body disease |
icd11.foundation:1777436789 |
MONDO:equivalentTo |
Dementia due to Lewy body disease |
Dementia preceding or occurring within one year after the onset of motor parkinsonian signs in the setting of Lewy body disease. Characterized by presence of Lewy bodies, which are intraneuronal inclusions containing -synuclein and ubiquitin in the brain stem, limbic area, forebrain, and neocortex. Onset is insidious with attentional and executive functioning deficits often present. These cognitive deficits are often accompanied by visual hallucinations and symptoms of REM sleep behaviour disorder. Hallucinations in other sensory modalities, depressive symptoms, and delusions may also be present. The symptom presentation usually varies significantly over the course of days necessitating longitudinal assessment and differentiation from delirium. Spontaneous onset of Parkinsonism within approximately 1 year of the onset of cognitive symptoms is common. |
MONDO:0001627 |
| MONDO:0972992 |
secondary paroxysmal dyskinesia |
icd11.foundation:1778157828 |
MONDO:equivalentTo |
Secondary paroxysmal dyskinesia |
Paroxysmal dyskinesia occurring secondary to a known etiology such as a structural or metabolic cause. |
MONDO:0016058 |
| MONDO:0972993 |
haemangiopericytic meningioma |
icd11.foundation:1778840661 |
MONDO:equivalentTo |
Haemangiopericytic meningioma |
|
MONDO:0016642 |
| MONDO:0972994 |
long qt syndrome, type 10 |
icd11.foundation:1778871871 |
MONDO:equivalentTo |
Long QT syndrome, type 10 |
Genetically proven Long QT syndrome type 10 (SCN4B), with or without clinical manifestations. |
MONDO:0019171 |
| MONDO:0972995 |
hypertrophic pulmonary osteoarthropathy |
icd11.foundation:1779492685 |
MONDO:equivalentTo |
Hypertrophic pulmonary osteoarthropathy |
|
MONDO:0006965 |
| MONDO:0972996 |
allergic asthma, uncomplicated |
icd11.foundation:1779929269 |
MONDO:equivalentTo |
Allergic asthma, uncomplicated |
|
MONDO:0004784 |
| MONDO:0972997 |
absence of nostril |
icd11.foundation:1781805631 |
MONDO:equivalentTo |
Absence of nostril |
|
MONDO:0015503 |
| MONDO:0972998 |
acute bacterial endocarditis |
icd11.foundation:1782854071 |
MONDO:equivalentTo |
Acute bacterial endocarditis |
|
MONDO:0006669 |
| MONDO:0972999 |
bradycardic cardiac arrest |
icd11.foundation:1782916831 |
MONDO:equivalentTo |
Bradycardic cardiac arrest |
Slow escape rhythm associated with hemodynamic collapse. |
MONDO:0000745 |
| MONDO:0973000 |
traumatic limitation of duction of eye muscle |
icd11.foundation:1783609490 |
MONDO:equivalentTo |
Traumatic limitation of duction of eye muscle |
|
MONDO:0004753 |
| MONDO:0973001 |
gangrenous purpura |
icd11.foundation:178389636 |
MONDO:equivalentTo |
Gangrenous purpura |
|
MONDO:0001243 |
| MONDO:0973002 |
radiculopathy due to neoplastic disease |
icd11.foundation:1784166269 |
MONDO:equivalentTo |
Radiculopathy due to neoplastic disease |
|
MONDO:0002959 |
| MONDO:0973003 |
total anomalous pulmonary venous connection of the infracardiac type |
icd11.foundation:1784217576 |
MONDO:equivalentTo |
Total anomalous pulmonary venous connection of the infracardiac type |
A congenital cardiovascular malformation with infradiaphragmatic total anomalous pulmonary venous connection. |
MONDO:0007130 |
| MONDO:0973004 |
syndrome with hypogonadotropic hypogonadism |
icd11.foundation:1784289513 |
MONDO:equivalentTo |
Syndrome with hypogonadotropic hypogonadism |
This is a syndrome condition which is characterised by hypogonadism due to an impaired secretion of gonadotropins, including follicle-stimulating hormone (FSH) and luteinizing hormone (LH), by the pituitary gland in the brain, and in turn decreased gonadotropin levels and a resultant lack of sex steroid production. |
MONDO:0015770 |
| MONDO:0973005 |
deletions of chromosome 12 |
icd11.foundation:1784469770 |
MONDO:equivalentTo |
Deletions of chromosome 12 |
|
MONDO:0020054 |
| MONDO:0973006 |
corneal ulcer with hypopyon |
icd11.foundation:178460613 |
MONDO:equivalentTo |
Corneal ulcer with hypopyon |
This is an inflammatory or more seriously, infective condition of the cornea involving disruption of its epithelial layer with involvement of the corneal stroma. This diagnosis is with inflammatory cells in the anterior chamber of eye. |
MONDO:0004577 |
| MONDO:0973007 |
adult heart tumour |
icd11.foundation:1784866291 |
MONDO:equivalentTo |
Adult heart tumour |
Primary tumours of the heart in adult age can be either benign or malignant. The most common benign tumours are in order of frequency: myxoma, lipoma, papillary fibroelastoma, rhabdomyoma, fibroma, hemangioma, teratoma, mesothelioma of the atrio-ventricular node, granular cell tumour, neurofibroma, lymphangioma. The most common malignant tumours are: angiosarcoma, rhabdomyosarcoma, mesothelioma, fibrosarcoma, malignant lymphoma, extra-skeletal osteosarcoma, thymoma, neurogenic sarcoma, leiomyosarcoma, liposarcoma, synovial sarcoma. |
MONDO:0021450 |
| MONDO:0973008 |
non-specific balanoposthitis |
icd11.foundation:1785364989 |
MONDO:equivalentTo |
Non-specific balanoposthitis |
Inflammation of the glans penis and/or prepuce which cannot be attributed to a specific cause. It is usually regarded as an irritant reaction to the presence of certain microorganisms including Pseudomonas and Candida. |
MONDO:0001618 |
| MONDO:0973009 |
proximal symphalangism, unilateral |
icd11.foundation:1785507801 |
MONDO:equivalentTo |
Proximal symphalangism, unilateral |
|
MONDO:0008511 |
| MONDO:0973010 |
congenital central hypothyroidism due to deficient transcription factors involved in pituitary development or function |
icd11.foundation:1785926555 |
MONDO:equivalentTo |
Congenital central hypothyroidism due to deficient transcription factors involved in pituitary development or function |
This refers to a congenital central state in which the thyroid gland does not make enough thyroid hormone. This diagnosis is due to deficient transcription factors involved in pituitary development or function. |
MONDO:0016410 |
| MONDO:0973011 |
cocaine-induced acrocyanosis and livedo reticularis |
icd11.foundation:1786797210 |
MONDO:equivalentTo |
Cocaine-induced acrocyanosis and livedo reticularis |
|
MONDO:0005186 |
| MONDO:0973012 |
angiomyolipomatosis and isolated cysts associated with tuberous sclerosis |
icd11.foundation:1787195447 |
MONDO:equivalentTo |
Angiomyolipomatosis and isolated cysts associated with tuberous sclerosis |
|
MONDO:0001734 |
| MONDO:0973013 |
humeral agenesis or hypoplasia, unilateral |
icd11.foundation:1787611693 |
MONDO:equivalentTo |
Humeral agenesis or hypoplasia, unilateral |
|
MONDO:0017440 |
| MONDO:0973014 |
aneurysmal bone cyst, upper arm |
icd11.foundation:1787968510 |
MONDO:equivalentTo |
Aneurysmal bone cyst, upper arm |
|
MONDO:0018815 |
| MONDO:0973015 |
mucinous papillary cystadenocarcinoma, unspecified site |
icd11.foundation:1788202409 |
MONDO:equivalentTo |
Mucinous papillary cystadenocarcinoma, unspecified site |
|
MONDO:0008170 |
| MONDO:0973016 |
acute myeloid leukaemia with t(8;21)(q22;q22), runx1-runx1t1 |
icd11.foundation:1788290685 |
MONDO:equivalentTo |
Acute myeloid leukaemia with t(8;21)(q22;q22), RUNX1-RUNX1T1 |
|
MONDO:0020078 |
| MONDO:0973017 |
isolated systolic hypertension |
icd11.foundation:1788452129 |
MONDO:equivalentTo |
Isolated systolic hypertension |
|
MONDO:0001134 |
| MONDO:0973018 |
muscle dysmorphia |
icd11.foundation:178847963 |
MONDO:equivalentTo |
Muscle dysmorphia |
|
MONDO:0000690 |
| MONDO:0973019 |
autosomal recessive hereditary spastic paraplegia |
icd11.foundation:1789135912 |
MONDO:equivalentTo |
Autosomal recessive hereditary spastic paraplegia |
|
MONDO:0019064 |
| MONDO:0973020 |
systemic sclerosis with lung involvement |
icd11.foundation:1789182887 |
MONDO:equivalentTo |
Systemic sclerosis with lung involvement |
|
MONDO:0005100 |
| MONDO:0973021 |
familial partial lipodystrophy, kbberling type |
icd11.foundation:1790224502 |
MONDO:equivalentTo |
Familial partial lipodystrophy, Kbberling type |
Familial partial lipodystrophy, Kbberling type belongs to the group of lipodystrophy syndromes characterised by anomalies of adipose tissue distribution and often associated with severe insulin resistance manifested by hyperinsulinaemia (insulin levels above 20mUI/l), carbohydrate intolerance or diabetes, hypertriglyceridaemia with low levels of high-density lipoproteins (HDL) and arterial hypertension. Acanthosis nigricans, hepatic steatosis and polycystic ovary syndrome are also frequent. |
MONDO:0020088 |
| MONDO:0973022 |
autonomic faciocephalalgia |
icd11.foundation:1790448215 |
MONDO:equivalentTo |
Autonomic faciocephalalgia |
|
MONDO:0001295 |
| MONDO:0973023 |
incomplete rotator cuff or supraspinatus tear or rupture, not specified as traumatic |
icd11.foundation:1790455240 |
MONDO:equivalentTo |
Incomplete rotator cuff or supraspinatus tear or rupture, not specified as traumatic |
|
MONDO:0007028 |
| MONDO:0973024 |
congestive larynx |
icd11.foundation:1790881921 |
MONDO:equivalentTo |
Congestive larynx |
|
MONDO:0001369 |
| MONDO:0973025 |
acquired bladder neck stenosis |
icd11.foundation:1791412357 |
MONDO:equivalentTo |
Acquired bladder neck stenosis |
This refers to an abnormal narrowing in the bladder-neck which is not present at birth. |
MONDO:0006679 |
| MONDO:0973026 |
euryblepharon, unilateral |
icd11.foundation:1793440480 |
MONDO:equivalentTo |
Euryblepharon, unilateral |
|
MONDO:0020464 |
| MONDO:0973027 |
kaschin-beck disease, lower leg |
icd11.foundation:1794665391 |
MONDO:equivalentTo |
Kaschin-Beck disease, lower leg |
|
MONDO:0005610 |
| MONDO:0973028 |
deletions of chromosome 22 |
icd11.foundation:1794672824 |
MONDO:equivalentTo |
Deletions of chromosome 22 |
|
MONDO:0020054 |
| MONDO:0973029 |
congenital absence of upper arm or forearm with hand present, unilateral |
icd11.foundation:1795061032 |
MONDO:equivalentTo |
Congenital absence of upper arm or forearm with hand present, unilateral |
|
MONDO:0017441 |
| MONDO:0973030 |
amyloid pterygium |
icd11.foundation:1795384121 |
MONDO:equivalentTo |
Amyloid pterygium |
|
MONDO:0005085 |
| MONDO:0973031 |
chronic atrophic rhinitis |
icd11.foundation:1795554974 |
MONDO:equivalentTo |
Chronic atrophic rhinitis |
|
MONDO:0004514 |
| MONDO:0973032 |
intermediate age-related macular degeneration |
icd11.foundation:179567065 |
MONDO:equivalentTo |
Intermediate age-related macular degeneration |
consists of extensive intermediate drusen, at least one large druse (>=125 microns in diameter), or geographic atrophy not involving the centre of the fovea |
MONDO:0005150 |
| MONDO:0973033 |
systemic lupus erythematosus with gastrointestinal involvement |
icd11.foundation:1796679566 |
MONDO:equivalentTo |
Systemic lupus erythematosus with gastrointestinal involvement |
|
MONDO:0007915 |
| MONDO:0973034 |
acute congenital pyelitis |
icd11.foundation:1797013204 |
MONDO:equivalentTo |
Acute congenital pyelitis |
|
MONDO:0003529 |
| MONDO:0973035 |
carney stratakis syndrome |
icd11.foundation:1797208660 |
MONDO:equivalentTo |
Carney Stratakis syndrome |
Carney-Stratakis syndrome is a familial syndrome characterised by gastrointestinal stromal tumours (GIST) and paragangliomas, often at multiple sites. |
MONDO:0015079 |
| MONDO:0973036 |
acute and subacute anterior uveitis of unknown aetiology |
icd11.foundation:1797362403 |
MONDO:equivalentTo |
Acute and subacute anterior uveitis of unknown aetiology |
Rapid or recent onset of inflammation of the iris and ciliary body characterised by exudates into the anterior chamber, discoloration of the iris, and constricted, sluggish pupil. Symptoms include radiating pain, photophobia, lacrimation, and interference with vision. |
MONDO:0006651 |
| MONDO:0973037 |
autosomal recessive dystrophic epidermolysis bullosa |
icd11.foundation:1797589304 |
MONDO:equivalentTo |
Autosomal recessive dystrophic epidermolysis bullosa |
Dystrophic forms of epidermolysis bullosa with autosomal recessive inheritance. |
MONDO:0006543 |
| MONDO:0973038 |
squamous cell carcinoma of vallecula |
icd11.foundation:1798233239 |
MONDO:equivalentTo |
Squamous cell carcinoma of vallecula |
|
MONDO:0044704 |
| MONDO:0973039 |
retinopathy of prematurity, zone 3 |
icd11.foundation:1798347410 |
MONDO:equivalentTo |
Retinopathy of prematurity, Zone 3 |
The residual temporal crescent of retina anterior to zone II. By convention, zones II and III are considered to be mutually exclusive. |
MONDO:0006952 |
| MONDO:0973040 |
proximal deletions of the long arm of chromosome 9 |
icd11.foundation:179966631 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 9 |
|
MONDO:0016908 |
| MONDO:0973041 |
juvenile polymyositis with anti-synthetase auto-antibody |
icd11.foundation:1799798848 |
MONDO:equivalentTo |
Juvenile polymyositis with anti-synthetase auto-antibody |
Juvenile polymyositis with anti-synthetase auto-antibody is a rare childhood idiopathic inflammatory myopathy associated with anti-synthetase autoantibody, being the anti-Jo-1 the most common autoantibody. These patients have a constellation of symptoms, including myalgias, muscle weakness, and a combination of "core" symptoms, including interstitial lung disease, Raynaud phenomenon, seronegative arthritis of the distal joints, fever, mechanics hands, and a skin rash different from the heliotrope erythema seen in dermatomyositis. |
MONDO:0019734 |
| MONDO:0973042 |
cerebral lipidoses |
icd11.foundation:1800046191 |
MONDO:equivalentTo |
Cerebral lipidoses |
|
MONDO:0016295 |
| MONDO:0973043 |
spondylolisthesis without pars defect |
icd11.foundation:1800119289 |
MONDO:equivalentTo |
Spondylolisthesis without pars defect |
This is a condition characterised by forward displacement of a superior vertebral body over the vertebral body below without a defect in the pars interarticularis. |
MONDO:0008475 |
| MONDO:0973044 |
uridine-5'-monophosphate hydrolase superactivity |
icd11.foundation:1800317547 |
MONDO:equivalentTo |
Uridine-5'-monophosphate hydrolase superactivity |
This refers to superactivity of a nucleotide that is used as a monomer in RNA. It is an ester of phosphoric acid with the nucleoside uridine. |
MONDO:0019238 |
| MONDO:0973045 |
ataxia due to superficial siderosis of the brain |
icd11.foundation:1800505416 |
MONDO:equivalentTo |
Ataxia due to superficial siderosis of the brain |
Superficial siderosis of the central nervous system results from hemosiderin deposition in the subpial layers of the brain and spinal cord. Patients present with ataxia and sensorineural hearing loss. A clear history of subarachnoid haemorrhage may or may not be present. |
MONDO:0016593 |
| MONDO:0973046 |
genital porokeratosis |
icd11.foundation:1800676494 |
MONDO:equivalentTo |
Genital porokeratosis |
A rare form of porokeratosis affecting genital skin. It occurs almost exclusively in men and presents as one or more keratotic papules or plaques, more often affecting the scrotum than the penis. |
MONDO:0006602 |
| MONDO:0973047 |
mucinous or serous carcinoma of fallopian tube |
icd11.foundation:1800721232 |
MONDO:equivalentTo |
Mucinous or serous carcinoma of fallopian tube |
|
MONDO:0002158 |
| MONDO:0973048 |
autosomal dominant osteopetrosis type 1 |
icd11.foundation:1802011368 |
MONDO:equivalentTo |
Autosomal dominant osteopetrosis type 1 |
Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterised by skeletal densification that predominantly involves the cranial vault. Clinical signs include chronic bone pain and disorders of the cranial nerves (trigeminal neuralgia, facial palsy, hearing loss). |
MONDO:0017198 |
| MONDO:0973049 |
chylopericardium |
icd11.foundation:1802123271 |
MONDO:equivalentTo |
Chylopericardium |
|
MONDO:0001370 |
| MONDO:0973050 |
acanthosis of tongue |
icd11.foundation:1802744047 |
MONDO:equivalentTo |
Acanthosis of tongue |
|
MONDO:0001689 |
| MONDO:0973051 |
spastic hemiplegia of dominant side |
icd11.foundation:1803198234 |
MONDO:equivalentTo |
Spastic hemiplegia of dominant side |
|
MONDO:0001168 |
| MONDO:0973052 |
x-linked intellectual deficit, fichera type |
icd11.foundation:1803677058 |
MONDO:equivalentTo |
X-linked intellectual deficit, Fichera type |
|
MONDO:0010653 |
| MONDO:0973053 |
hordeolum internum |
icd11.foundation:1804498477 |
MONDO:equivalentTo |
Hordeolum internum |
A focal acute pyogenic infection, usually by Staphylococcus aureus, of a meibomian gland, the normal secretion from which into the eyelash follicle is blocked. It presents as an acute inflammatory swelling which may discharge onto the conjunctival surface of the eyelid, or rarely anteriorly through the eyelid skin. It may predispose to formation of a chalazion. |
MONDO:0005800 |
| MONDO:0973054 |
actinic reticuloid |
icd11.foundation:1804793992 |
MONDO:equivalentTo |
Actinic reticuloid |
|
MONDO:0018025 |
| MONDO:0973055 |
panniculitis, unspecified, forearm |
icd11.foundation:1805002458 |
MONDO:equivalentTo |
Panniculitis, unspecified, forearm |
|
MONDO:0006591 |
| MONDO:0973056 |
coated tongue |
icd11.foundation:1805011071 |
MONDO:equivalentTo |
Coated tongue |
|
MONDO:0001689 |
| MONDO:0973057 |
urban yellow fever |
icd11.foundation:1805149915 |
MONDO:equivalentTo |
Urban yellow fever |
This is an acute viral haemorrhagic disease. The virus is a 40 to 50nm enveloped positive sense RNA virus, the first human virus discovered and the namesake of the Flavivirus genus. |
MONDO:0020502 |
| MONDO:0973058 |
precapillary pulmonary hypertension |
icd11.foundation:180516823 |
MONDO:equivalentTo |
Precapillary pulmonary hypertension |
|
MONDO:0005149 |
| MONDO:0973059 |
drug-induced osteoporosis, hand |
icd11.foundation:1805295907 |
MONDO:equivalentTo |
Drug-induced osteoporosis, hand |
|
MONDO:0024650 |
| MONDO:0973060 |
squamous cell carcinoma of vulva, not otherwise specified |
icd11.foundation:1805507857 |
MONDO:equivalentTo |
Squamous cell carcinoma of vulva, not otherwise specified |
|
MONDO:0024609 |
| MONDO:0973061 |
infective inguinal bubo |
icd11.foundation:1805511520 |
MONDO:equivalentTo |
Infective inguinal bubo |
|
MONDO:0002052 |
| MONDO:0973062 |
acute central serous chorioretinopathy |
icd11.foundation:1805579540 |
MONDO:equivalentTo |
Acute Central Serous Chorioretinopathy |
This is an acute eye disease which causes visual impairment, often temporary, usually in one eye. When the disorder is active it is characterised by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia). A blurred or grey spot in the central visual field is common when the retina is detached. Reduced visual acuity may persist after the fluid has disappeared. |
MONDO:0018616 |
| MONDO:0973063 |
squamous cell carcinoma of vulva, hpv associated |
icd11.foundation:1806999551 |
MONDO:equivalentTo |
Squamous cell carcinoma of vulva, HPV associated |
|
MONDO:0024609 |
| MONDO:0973064 |
bidirectional ventricular tachycardia |
icd11.foundation:1807163817 |
MONDO:equivalentTo |
Bidirectional ventricular tachycardia |
Polymorphic ventricular tachycardia in which there is beat-to-beat shift of the frontal plane QRS axis. |
MONDO:0020575 |
| MONDO:0973065 |
acroscleroderma |
icd11.foundation:180728692 |
MONDO:equivalentTo |
Acroscleroderma |
|
MONDO:0005100 |
| MONDO:0973066 |
ataxia due to mitochondrial mutations |
icd11.foundation:180800797 |
MONDO:equivalentTo |
Ataxia due to mitochondrial mutations |
|
MONDO:0100309 |
| MONDO:0973067 |
chondromalacia, ribs |
icd11.foundation:180808603 |
MONDO:equivalentTo |
Chondromalacia, ribs |
|
MONDO:0002342 |
| MONDO:0973068 |
choanal atresia - deafness - cardiac defects - dysmorphism |
icd11.foundation:1808187093 |
MONDO:equivalentTo |
Choanal atresia - deafness - cardiac defects - dysmorphism |
Choanal atresia - deafness - cardiac defects - dysmorphism syndrome is characterised by bilateral choanal atresia associated with a characteristic facial appearance (prominent ears, hypertelorism with short palpebral fissures and abnormalities of the outer third of the lower eyelid). |
MONDO:0019589 |
| MONDO:0973069 |
mild haemophilia b |
icd11.foundation:1810106678 |
MONDO:equivalentTo |
Mild haemophilia B |
Mild haemophilia B is a form of haemophilia B characterised by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Mild haemophilia B accounts for around 30% of all cases of haemophilia B. The biological activity of factor IX is between 5 and 40%. Spontaneous haemorrhages do not occur. Transmission is X-linked recessive and the disorder is caused by mutations in the F9 gene (Xq28) encoding coagulation factor IX. |
MONDO:0010604 |
| MONDO:0973070 |
congenital short oesophagus |
icd11.foundation:1811282716 |
MONDO:equivalentTo |
Congenital short oesophagus |
This is a developmental anomaly in which an abnormally short oesophagus accompanied by an intrathoracic location of part of the stomach. Symptoms are often present at birth and include gastroesophageal reflux and vomiting. |
MONDO:0019513 |
| MONDO:0973071 |
benign androblastoma, unspecified site, male |
icd11.foundation:1811293212 |
MONDO:equivalentTo |
Benign androblastoma, unspecified site, male |
|
MONDO:0021447 |
| MONDO:0973072 |
multiple keratoacanthomas |
icd11.foundation:1811397628 |
MONDO:equivalentTo |
Multiple keratoacanthomas |
|
MONDO:0002527 |
| MONDO:0973073 |
alagille syndrome type 2 |
icd11.foundation:1811504873 |
MONDO:equivalentTo |
Alagille syndrome type 2 |
|
MONDO:0007318 |
| MONDO:0973074 |
ulcerative balanoposthitis |
icd11.foundation:1811834569 |
MONDO:equivalentTo |
Ulcerative balanoposthitis |
|
MONDO:0001618 |
| MONDO:0973075 |
osteochondrosis of patella |
icd11.foundation:1812673683 |
MONDO:equivalentTo |
Osteochondrosis of patella |
|
MONDO:0018381 |
| MONDO:0973076 |
fertile eunuch syndrome |
icd11.foundation:1812896625 |
MONDO:equivalentTo |
Fertile eunuch syndrome |
|
MONDO:0005152 |
| MONDO:0973077 |
animal scabies |
icd11.foundation:1812901354 |
MONDO:equivalentTo |
Animal scabies |
Subspecies of Sarcoptes scabiei other than that causing human scabies (Sarcoptes scabiei var. hominis) infest many different mammals and are host-specific. Close contact with infested animals (sarcoptic mange) may produce short-lived symptoms of irritation and itch in humans but the mites cannot survive and reproduce in human hosts. |
MONDO:0004525 |
| MONDO:0973078 |
neurological complications of behet disease |
icd11.foundation:1812940625 |
MONDO:equivalentTo |
Neurological complications of Behet disease |
|
MONDO:0007191 |
| MONDO:0973079 |
lane syndrome |
icd11.foundation:1813142333 |
MONDO:equivalentTo |
Lane syndrome |
|
MONDO:0005673 |
| MONDO:0973080 |
complete transverse myelitis |
icd11.foundation:1814503313 |
MONDO:equivalentTo |
Complete transverse myelitis |
Inflammation and demyelination across both sides of the spinal cord, resulting in symptoms of neurological dysfunction below the level of the demyelinating area. |
MONDO:0021553 |
| MONDO:0973081 |
multiple epiphyseal dysplasia type 3 |
icd11.foundation:1814680344 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia type 3 |
|
MONDO:0015627 |
| MONDO:0973082 |
chronic suppuration of nasal sinus |
icd11.foundation:1814714379 |
MONDO:equivalentTo |
Chronic suppuration of nasal sinus |
|
MONDO:0006031 |
| MONDO:0973083 |
homozygous hbe carriers |
icd11.foundation:1814940254 |
MONDO:equivalentTo |
Homozygous HbE carriers |
|
MONDO:0016243 |
| MONDO:0973084 |
yellow oculocutaneous albinism |
icd11.foundation:1816007840 |
MONDO:equivalentTo |
Yellow oculocutaneous albinism |
Yellow OCA is a variant of OCA-1B where patients are born with no pigment and associated severe visual problems, but develop some pigmentation, principally yellow-red phaeomelanin, from early childhood. This form is primarily reported in the Amish population of North America. |
MONDO:0011749 |
| MONDO:0973085 |
psoriatic arthritis, ankle or foot |
icd11.foundation:1816012557 |
MONDO:equivalentTo |
Psoriatic arthritis, ankle or foot |
|
MONDO:0011849 |
| MONDO:0973086 |
peripheral pterygium of eye, progressive |
icd11.foundation:1816174674 |
MONDO:equivalentTo |
Peripheral pterygium of eye, progressive |
|
MONDO:0005085 |
| MONDO:0973087 |
chondromalacia, vertebral column |
icd11.foundation:1816257067 |
MONDO:equivalentTo |
Chondromalacia, vertebral column |
|
MONDO:0002342 |
| MONDO:0973088 |
cephalic tetanus |
icd11.foundation:1816994419 |
MONDO:equivalentTo |
Cephalic tetanus |
|
MONDO:0005526 |
| MONDO:0973089 |
multiple evanescent white dot syndrome |
icd11.foundation:1817745681 |
MONDO:equivalentTo |
Multiple Evanescent White Dot Syndrome |
This is an uncommon inflammatory condition of the retina that typically affects otherwise healthy young females in the second to fourth decades of life. |
MONDO:0019541 |
| MONDO:0973090 |
isovaleric aciduria |
icd11.foundation:1817788413 |
MONDO:equivalentTo |
Isovaleric aciduria |
Isovalericacidaemia is caused by a deficit in isovaleryl CoA dehydrogenase which affects leucine metabolism. The disease is transmitted by autosomal recessive inheritance. The estimated prevalence in the general population of Europe is 1/100 000. As of the first days of life, newborns can present vomiting, dehydration, coma and abnormal movements. Biological examinations show metabolic acidosis with ketosis, hyperammonemia, neutropaenia, thrombopaenia, hypocalcaemia. Treatment is based on a moderate restriction of proteins in the diet and oral administration of glycine and carnitine which assure effective clearance of isovaleryl CoA. |
MONDO:0019215 |
| MONDO:0973091 |
chronic laryngotracheobronchitis |
icd11.foundation:1818227042 |
MONDO:equivalentTo |
Chronic laryngotracheobronchitis |
|
MONDO:0005607 |
| MONDO:0973092 |
alport syndrome, autosomal dominant |
icd11.foundation:1818228669 |
MONDO:equivalentTo |
Alport syndrome, autosomal dominant |
|
MONDO:0018965 |
| MONDO:0973093 |
postductal coarctation of aorta |
icd11.foundation:1818445124 |
MONDO:equivalentTo |
Postductal coarctation of aorta |
A congenital cardiovascular malformation in which there is narrowing of the aortic lumen distal to the insertion of the arterial duct (ductus arteriosus) or ligament (ligamentum arteriosum). |
MONDO:0007345 |
| MONDO:0973094 |
conduction aphasia |
icd11.foundation:1819410551 |
MONDO:equivalentTo |
Conduction aphasia |
Intact auditory comprehension, fluent speech, but poor speech repetition |
MONDO:0000598 |
| MONDO:0973095 |
metastatic tuberculous abscess |
icd11.foundation:1819488673 |
MONDO:equivalentTo |
Metastatic tuberculous abscess |
A metastatic tuberculous abscess (tuberculous gumma) is a tuberculous ulcer arising in the skin as a result of haematogenous spread of M. tuberculosis from an internal focus of infection. They can be multiple. |
MONDO:0021948 |
| MONDO:0973096 |
acute anterior polioencephalomyelitis |
icd11.foundation:182005728 |
MONDO:equivalentTo |
Acute anterior polioencephalomyelitis |
|
MONDO:0017373 |
| MONDO:0973097 |
pleuritic adhesions |
icd11.foundation:1820262011 |
MONDO:equivalentTo |
Pleuritic adhesions |
|
MONDO:0000986 |
| MONDO:0973098 |
tuberculous meningitis |
icd11.foundation:1820468614 |
MONDO:equivalentTo |
Tuberculous meningitis |
A disease of the meninges, caused by an infection with the bacteria Mycobacterium tuberculosis. This disease is characterised by fever, headache, or neurological deficits. Transmission is through haematogenous spread to the meninges after inhalation of infected respiratory secretions. Confirmation is by identification of Mycobacterium tuberculosis in the cerebrospinal fluid. |
MONDO:0006670 |
| MONDO:0973099 |
chronic myelomonocytic leukaemia with eosinophilia |
icd11.foundation:1821609913 |
MONDO:equivalentTo |
Chronic myelomonocytic leukaemia with eosinophilia |
|
MONDO:0020311 |
| MONDO:0973100 |
secondary portal hypertension |
icd11.foundation:1822573082 |
MONDO:equivalentTo |
Secondary portal hypertension |
This is secondary hypertension (high blood pressure) in the portal vein system, which is composed by the portal vein, and its branches and tributaries. |
MONDO:0005080 |
| MONDO:0973101 |
ovarioleukodystrophy |
icd11.foundation:1823072890 |
MONDO:equivalentTo |
Ovarioleukodystrophy |
|
MONDO:0015521 |
| MONDO:0973102 |
colloid cyst of pituitary gland |
icd11.foundation:1823157325 |
MONDO:equivalentTo |
Colloid cyst of pituitary gland |
|
MONDO:0015127 |
| MONDO:0973103 |
other fungal panuveitis |
icd11.foundation:1824565903 |
MONDO:equivalentTo |
Other fungal panuveitis |
|
MONDO:0017211 |
| MONDO:0973104 |
inborn errors of lipid metabolism |
icd11.foundation:182578312 |
MONDO:equivalentTo |
Inborn errors of lipid metabolism |
|
MONDO:0019052 |
| MONDO:0973105 |
panniculitis, unspecified, ankle or foot |
icd11.foundation:1825957297 |
MONDO:equivalentTo |
Panniculitis, unspecified, ankle or foot |
|
MONDO:0006591 |
| MONDO:0973106 |
drug-induced osteoporosis, multiple sites |
icd11.foundation:1826185802 |
MONDO:equivalentTo |
Drug-induced osteoporosis, multiple sites |
|
MONDO:0024650 |
| MONDO:0973107 |
sphenoidal infection |
icd11.foundation:1826392765 |
MONDO:equivalentTo |
Sphenoidal infection |
|
MONDO:0001123 |
| MONDO:0973108 |
distal myopathy with early respiratory muscle involvement |
icd11.foundation:1826485659 |
MONDO:equivalentTo |
Distal myopathy with early respiratory muscle involvement |
Distal myopathy with early respiratory muscle involvement is a clinically distinct myopathy with mid-life onset characterised by tibialis anterior weakness and progressive respiratory muscle involvement present from the onset of the disease. |
MONDO:0018949 |
| MONDO:0973109 |
frozen eyeball syndrome |
icd11.foundation:1827218823 |
MONDO:equivalentTo |
Frozen eyeball syndrome |
|
MONDO:0004753 |
| MONDO:0973110 |
classical scabies |
icd11.foundation:1827301146 |
MONDO:equivalentTo |
Classical scabies |
|
MONDO:0004525 |
| MONDO:0973111 |
congenital secondary hydronephrosis |
icd11.foundation:1827430510 |
MONDO:equivalentTo |
Congenital secondary hydronephrosis |
|
MONDO:0007741 |
| MONDO:0973112 |
periodic hereditary oedema |
icd11.foundation:1827593476 |
MONDO:equivalentTo |
Periodic hereditary oedema |
|
MONDO:0019623 |
| MONDO:0973113 |
congenital shoulder dislocation, bilateral |
icd11.foundation:1828701020 |
MONDO:equivalentTo |
Congenital shoulder dislocation, bilateral |
|
MONDO:0017468 |
| MONDO:0973114 |
immunodeficiency with factor i anomaly |
icd11.foundation:182877663 |
MONDO:equivalentTo |
Immunodeficiency with factor I anomaly |
This is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with factor I anomaly. |
MONDO:0015136 |
| MONDO:0973115 |
myelomeningocele with hydrocephalus |
icd11.foundation:182894151 |
MONDO:equivalentTo |
Myelomeningocele with hydrocephalus |
A condition caused by failure of the neural tube to correctly develop during the antenatal period. This condition is characterised by nerve damage and hydrocephalus. This condition may also present with syringomyelia, hip dislocation, headache, nausea, vomiting, blurry vision, balance problems, bladder control problems, meningitis, or mental impairment. |
MONDO:0017069 |
| MONDO:0973116 |
necrotising enterocolitis of newborn, stage 1a & b |
icd11.foundation:1829069221 |
MONDO:equivalentTo |
Necrotising enterocolitis of newborn, Stage 1A & B |
|
MONDO:0005313 |
| MONDO:0973117 |
renal pseudohypoaldosteronism type 1 |
icd11.foundation:1829275943 |
MONDO:equivalentTo |
Renal pseudohypoaldosteronism type 1 |
Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. Clinical expression: in general, patients present with a salt wasting syndrome in the neonatal period, with weight loss, failure to thrive, vomiting and dehydration. Occasionally, polyhydramnios has been noted. Symptoms of renal PHA1 usually improve in early childhood and older children are generally asymptomatic with normal growth and psychomotor development. |
MONDO:0019161 |
| MONDO:0973118 |
congenital symblepharon, bilateral |
icd11.foundation:1829696481 |
MONDO:equivalentTo |
Congenital symblepharon, bilateral |
This is a congenital partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. It results either from disease (conjunctival sequelae of Trachoma) or trauma. Cicatricial pemphigoid and, in severe cases, rosacea may cause symblepharon. This diagnosis is occurring in both eyes. |
MONDO:0020359 |
| MONDO:0973119 |
recurrent transverse myelitis aquaporin-4 antibody positive |
icd11.foundation:1829846416 |
MONDO:equivalentTo |
Recurrent transverse myelitis aquaporin-4 antibody positive |
Two or more episodes of transverse myelitis which is typically longitudinally extensive (>3 vertebral segments) associated with seropositivity for aquaporin-4 antibodies but without sufficient features to fulfill the 2006 NMO diagnostic criteria. |
MONDO:0019100 |
| MONDO:0973120 |
classic mast cell leukaemia |
icd11.foundation:1829933363 |
MONDO:equivalentTo |
Classic mast cell leukaemia |
|
MONDO:0020334 |
| MONDO:0973121 |
transient congenital hypothyroidism due to monoallelic or biallelic mutations of dual oxidase 2 mutation |
icd11.foundation:1830092908 |
MONDO:equivalentTo |
Transient congenital hypothyroidism due to monoallelic or biallelic mutations of dual oxidase 2 mutation |
This is a transient congenital state in which the thyroid gland does not make enough thyroid hormone. This diagnosis is due to heterozygous mutations of monoallelic or biallelic mutations of dual oxidase 2 mutation [DUOX2] |
MONDO:0015792 |
| MONDO:0973122 |
female infertility associated with pituitary-hypothalamic origin |
icd11.foundation:1830851265 |
MONDO:equivalentTo |
Female infertility associated with pituitary-hypothalamic origin |
|
MONDO:0005152 |
| MONDO:0973123 |
rachipagus |
icd11.foundation:1831926117 |
MONDO:equivalentTo |
Rachipagus |
A condition characterised as conjoined twins that are united at the spinal column. |
MONDO:0958083 |
| MONDO:0973124 |
vaginal and cervical prolapse |
icd11.foundation:1831940577 |
MONDO:equivalentTo |
Vaginal and cervical prolapse |
|
MONDO:0000082 |
| MONDO:0973125 |
omental fat necrosis |
icd11.foundation:1832102236 |
MONDO:equivalentTo |
Omental fat necrosis |
|
MONDO:0004522 |
| MONDO:0973126 |
budd-chiari syndrome with inferior vena cava obstruction |
icd11.foundation:183236831 |
MONDO:equivalentTo |
Budd-Chiari syndrome with inferior vena cava obstruction |
This is a condition of reduced venous flow out of the liver due to blockage in the inferior vena cava. |
MONDO:0010947 |
| MONDO:0973127 |
infantile hypophosphatasia |
icd11.foundation:1832803655 |
MONDO:equivalentTo |
Infantile hypophosphatasia |
|
MONDO:0018570 |
| MONDO:0973128 |
self-defeating personality disorder |
icd11.foundation:1833218466 |
MONDO:equivalentTo |
Self-defeating personality disorder |
|
MONDO:0001157 |
| MONDO:0973129 |
acute acquired pure red cell aplasia |
icd11.foundation:1834257206 |
MONDO:equivalentTo |
Acute acquired pure red cell aplasia |
This refers to transient (acute) and acquired type of anaemia affecting the precursors to red blood cells but not to white blood cells. In PRCA, the bone marrow ceases to produce red blood cells. |
MONDO:0020338 |
| MONDO:0973130 |
infantilism syndrome |
icd11.foundation:1834702323 |
MONDO:equivalentTo |
Infantilism syndrome |
|
MONDO:0005152 |
| MONDO:0973131 |
familial triphalangeal thumbs - big toe duplication |
icd11.foundation:1835491481 |
MONDO:equivalentTo |
Familial triphalangeal thumbs - big toe duplication |
|
MONDO:0017434 |
| MONDO:0973132 |
transverse myelitis, aquaporin-4 antibody positive |
icd11.foundation:183617595 |
MONDO:equivalentTo |
Transverse myelitis, aquaporin-4 antibody positive |
An inflammatory demyelinating disorder of the spinal cord with positive aquaporin-4 antibody. A longitudinally extensive spinal cord lesion indicates the sagittal spinal magnetic resonance images have an abnormal T2-weighted signal extending across at least 3 vertebral segments. Spinal cord lesions usually extend three or more segments in patients with positive aquaporin-4 antibodies. |
MONDO:0021553 |
| MONDO:0973133 |
chronic bronchorrhoea |
icd11.foundation:1836185810 |
MONDO:equivalentTo |
Chronic bronchorrhoea |
|
MONDO:0005607 |
| MONDO:0973134 |
intermediate anorectal malformation with fistula |
icd11.foundation:1836198057 |
MONDO:equivalentTo |
Intermediate anorectal malformation with fistula |
This is a type of anorectal atresia. This is an intermediate lesion, in which cul-de-sac at the level of the pubococcygeal line. There is a bulbar rectourethral (rectovestibular or low rectovaginal) fistula. |
MONDO:0015732 |
| MONDO:0973135 |
alcohol dependence, early full remission |
icd11.foundation:1836362492 |
MONDO:equivalentTo |
Alcohol dependence, early full remission |
After a diagnosis of alcohol dependence, and often following a treatment episode or other intervention (including self-help intervention), the individual has been abstinent from alcohol during a period lasting between 1 and 12 months. |
MONDO:0007079 |
| MONDO:0973136 |
epithelioid trophoblastic tumour |
icd11.foundation:1836453605 |
MONDO:equivalentTo |
Epithelioid trophoblastic tumour |
Epithelioid trophoblastic tumour is an extremely rare gestational trophoblastic tumour which generally occurs several years after pregnancy and may manifest as irregular metrorrhagia and moderate increases in chorionic gonadotropin levels. |
MONDO:0018944 |
| MONDO:0973137 |
anetoderma of schweninger-buzzi |
icd11.foundation:183648635 |
MONDO:equivalentTo |
Anetoderma of Schweninger-Buzzi |
Primary anetoderma without preceding inflammation |
MONDO:0016444 |
| MONDO:0973138 |
klinefelter syndrome with karyotype 47,xxy, mosaicism |
icd11.foundation:1836851606 |
MONDO:equivalentTo |
Klinefelter syndrome with karyotype 47,XXY, mosaicism |
|
MONDO:0006823 |
| MONDO:0973139 |
pantothenate-kinase-associated neurodegeneration |
icd11.foundation:183705274 |
MONDO:equivalentTo |
Pantothenate-kinase-associated neurodegeneration |
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease. |
MONDO:0018307 |
| MONDO:0973140 |
pelizaeus-merzbacher-like due to aimp1 mutation |
icd11.foundation:1837915951 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher-like due to AIMP1 mutation |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; ). This type is due to a mutation in the AIMP1 gene. |
MONDO:0017226 |
| MONDO:0973141 |
hyperkeratotic actinic keratosis |
icd11.foundation:1837982647 |
MONDO:equivalentTo |
Hyperkeratotic actinic keratosis |
|
MONDO:0005173 |
| MONDO:0973142 |
acute thyroiditis due to bacterial infection |
icd11.foundation:1838793096 |
MONDO:equivalentTo |
Acute thyroiditis due to bacterial infection |
|
MONDO:0001949 |
| MONDO:0973143 |
interrupted aortic arch between carotid arteries, type c |
icd11.foundation:1840336207 |
MONDO:equivalentTo |
Interrupted aortic arch between carotid arteries, type C |
A congenital cardiovascular malformation of the aorta in which there is an absence of luminal continuity of the aorta between the carotid arteries. |
MONDO:0009010 |
| MONDO:0973144 |
autosomal dominant dystrophic epidermolysis bullosa |
icd11.foundation:1840670133 |
MONDO:equivalentTo |
Autosomal dominant dystrophic epidermolysis bullosa |
Dystrophic forms of epidermolysis bullosa with autosomal dominant inheritance. |
MONDO:0006543 |
| MONDO:0973145 |
kaschin-beck disease, upper arm |
icd11.foundation:1841014980 |
MONDO:equivalentTo |
Kaschin-Beck disease, upper arm |
|
MONDO:0005610 |
| MONDO:0973146 |
deletions of chromosome 6 |
icd11.foundation:1841102870 |
MONDO:equivalentTo |
Deletions of chromosome 6 |
|
MONDO:0020054 |
| MONDO:0973147 |
adrenal virilism |
icd11.foundation:1841373699 |
MONDO:equivalentTo |
Adrenal virilism |
|
MONDO:0015898 |
| MONDO:0973148 |
anterior and posterior axial embryonal cataract |
icd11.foundation:1841644445 |
MONDO:equivalentTo |
Anterior and posterior axial embryonal cataract |
|
MONDO:0011060 |
| MONDO:0973149 |
erythropoietic protoporphyria due to ferrochelatase deficiency |
icd11.foundation:1842121166 |
MONDO:equivalentTo |
Erythropoietic protoporphyria due to ferrochelatase deficiency |
|
MONDO:0001676 |
| MONDO:0973150 |
46,xx disorders of sex development induced by androgens of fetal origin |
icd11.foundation:1842263206 |
MONDO:equivalentTo |
46,XX disorders of sex development induced by androgens of fetal origin |
This refers to 46,XX disorders of sex development induced by any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of male characteristics in vertebrates by binding to androgen receptors, of fetal origin. |
MONDO:0015898 |
| MONDO:0973151 |
myocardial bridging of coronary artery |
icd11.foundation:184231124 |
MONDO:equivalentTo |
Myocardial bridging of coronary artery |
A congenital cardiovascular malformation in which a usually epicardial coronary arterial segment is located within the ventricular myocardium, making this segment susceptible to compression during systole. |
MONDO:0015203 |
| MONDO:0973152 |
aneurysmal bone cyst, lower leg |
icd11.foundation:1842477205 |
MONDO:equivalentTo |
Aneurysmal bone cyst, lower leg |
|
MONDO:0018815 |
| MONDO:0973153 |
idiopathic aseptic osteonecrosis, vertebral column |
icd11.foundation:1843071896 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, vertebral column |
|
MONDO:0018380 |
| MONDO:0973154 |
congenital haemorrhagic pancreatic cyst |
icd11.foundation:1843466361 |
MONDO:equivalentTo |
Congenital haemorrhagic pancreatic cyst |
|
MONDO:0017783 |
| MONDO:0973155 |
adult-onset immunodeficiency |
icd11.foundation:1843843106 |
MONDO:equivalentTo |
Adult-onset immunodeficiency |
Adults with disseminated mycobacterial infections and/or other AIDS-defining infections, often involving concomitant neutrophilic dermatoses. All patients have high titres of anti-interferon-gamma and normal CD4 T helper cell counts. |
MONDO:0017769 |
| MONDO:0973156 |
tuberculosis of throat |
icd11.foundation:1844967742 |
MONDO:equivalentTo |
Tuberculosis of throat |
|
MONDO:0957462 |
| MONDO:0973157 |
hypertensive retinopathy, stage 4, signs of stage 3 retinopathy plus swelling of the optic disk |
icd11.foundation:1846427223 |
MONDO:equivalentTo |
Hypertensive Retinopathy, Stage 4, Signs of stage 3 retinopathy plus swelling of the optic disk |
|
MONDO:0006797 |
| MONDO:0973158 |
endophthalmitis in toxocariasis |
icd11.foundation:1847699177 |
MONDO:equivalentTo |
Endophthalmitis in toxocariasis |
This an inflammation of the internal coats of the eye. This diagnosis is in an illness of humans caused by a larvae (immature worms) of either the dog roundworm (Toxocara canis), the cat roundworm (Toxocara cati) or the fox (Toxocara canis). |
MONDO:0024315 |
| MONDO:0973159 |
amniocele |
icd11.foundation:1847985603 |
MONDO:equivalentTo |
Amniocele |
|
MONDO:0019015 |
| MONDO:0973160 |
primary open-angle glaucoma |
icd11.foundation:1849071057 |
MONDO:equivalentTo |
Primary open-angle glaucoma |
Primary open-angle glaucoma is a chronic progressive optic neuropathy with characteristic morphological changes at the optic nerve head and retinal nerve fibre layer in the absence of other ocular disease or congenital anomalies. Progressive retinal ganglion cell death and visual field loss are associated with these changes. Anterior chamber angle appearance is normal and major risk factors include level of intraocular pressure and older age. |
MONDO:0005041 |
| MONDO:0973161 |
cardiac asthenia |
icd11.foundation:184968605 |
MONDO:equivalentTo |
Cardiac asthenia |
|
MONDO:0005252 |
| MONDO:0973162 |
calcareous corneal degeneration |
icd11.foundation:1850401488 |
MONDO:equivalentTo |
Calcareous corneal degeneration |
|
MONDO:0001515 |
| MONDO:0973163 |
small cell lung cancer |
icd11.foundation:1851051911 |
MONDO:equivalentTo |
Small cell lung cancer |
|
MONDO:0008433 |
| MONDO:0973164 |
stickler syndrome type 3 |
icd11.foundation:1851139619 |
MONDO:equivalentTo |
Stickler syndrome type 3 |
|
MONDO:0019354 |
| MONDO:0973165 |
exposure keratitis due to incomplete eyelid closure |
icd11.foundation:1851327281 |
MONDO:equivalentTo |
Exposure keratitis due to incomplete eyelid closure |
|
MONDO:0004794 |
| MONDO:0973166 |
ochlophobia |
icd11.foundation:1852123918 |
MONDO:equivalentTo |
Ochlophobia |
|
MONDO:0003709 |
| MONDO:0973167 |
diffuse systemic sclerosis |
icd11.foundation:1852283743 |
MONDO:equivalentTo |
Diffuse systemic sclerosis |
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterised by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). |
MONDO:0005100 |
| MONDO:0973168 |
anterior uveitis not associated with systemic conditions |
icd11.foundation:1852679165 |
MONDO:equivalentTo |
Anterior uveitis not associated with systemic conditions |
|
MONDO:0006651 |
| MONDO:0973169 |
agenesis of lung, unilateral |
icd11.foundation:185353843 |
MONDO:equivalentTo |
Agenesis of lung, unilateral |
This refers to the failure of the lung to develop during embryonic growth and development due to the absence of primordial tissue, unilateral. |
MONDO:0020110 |
| MONDO:0973170 |
endometriosis in caesarean scar |
icd11.foundation:1854010229 |
MONDO:equivalentTo |
Endometriosis in caesarean scar |
Caesarean scar endometriosis is characterized by the presence of ectopic endometrium in the uterine scar after delivery by caesarean section. The endometrial tissue is embedded (inoculated) directly in the myometrial incision. |
MONDO:0001287 |
| MONDO:0973171 |
secondary hyperaldosteronism |
icd11.foundation:1854396649 |
MONDO:equivalentTo |
Secondary hyperaldosteronism |
|
MONDO:0003009 |
| MONDO:0973172 |
acute oedematous pancreatitis |
icd11.foundation:1855055889 |
MONDO:equivalentTo |
Acute oedematous pancreatitis |
|
MONDO:0006515 |
| MONDO:0973173 |
posterior uveitis, other viruses |
icd11.foundation:1855302690 |
MONDO:equivalentTo |
Posterior uveitis, other viruses |
|
MONDO:0017209 |
| MONDO:0973174 |
classical sporadic creutzfeldt-jakob disease |
icd11.foundation:1855860109 |
MONDO:equivalentTo |
Classical sporadic Creutzfeldt-Jakob Disease |
The most common human prion disease, typically characterised by rapidly progressive dementia, ataxic gait, myoclonus, akinetic mutism, and visual disturbance. Magnetic resonance imaging of the brain, on diffusion-weighted imaging (DWI) sequences, reveals patchy hyperintensity of the cerebral cortices and basal ganglia. Cerebrospinal fluid shows increased 14-3-3 and tau proteins. There are periodic synchronous discharges (PSD) on electroencephalogram (EEG). This is the classical or typical sCJD and its neuropathology is characterised by spongiform encephalopathy consisting of neuronal loss, neuropil vacuolation, and astrogliosis. |
MONDO:0016079 |
| MONDO:0973175 |
penile pemphigus |
icd11.foundation:1856108554 |
MONDO:equivalentTo |
Penile pemphigus |
Pemphigus vulgaris involving the mucocutaneous epithelium of the penis and presenting as ulceration of the glans penis and prepuce. Although blistering and ulceration is usually apparent elsewhere, the pemphigus may be confined to the penis and represent a diagnostic challenge. |
MONDO:0008219 |
| MONDO:0973176 |
glossophytia |
icd11.foundation:1856137089 |
MONDO:equivalentTo |
Glossophytia |
|
MONDO:0001689 |
| MONDO:0973177 |
respiratory distress syndrome of the newborn, altered by pulmonary surfactant replacement therapy |
icd11.foundation:1856506066 |
MONDO:equivalentTo |
Respiratory distress syndrome of the newborn, altered by pulmonary surfactant replacement therapy |
|
MONDO:0009971 |
| MONDO:0973178 |
sclerocornea, unilateral |
icd11.foundation:1857096193 |
MONDO:equivalentTo |
Sclerocornea, unilateral |
|
MONDO:0019629 |
| MONDO:0973179 |
familial pseudohyperkalaemia type 1 |
icd11.foundation:1857306192 |
MONDO:equivalentTo |
Familial pseudohyperkalaemia type 1 |
|
MONDO:0012204 |
| MONDO:0973180 |
yolk sac tumour, unspecified site, female |
icd11.foundation:1857446965 |
MONDO:equivalentTo |
Yolk sac tumour, unspecified site, female |
|
MONDO:0008170 |
| MONDO:0973181 |
pityriasis rubra pilaris, juvenile |
icd11.foundation:1857692788 |
MONDO:equivalentTo |
Pityriasis rubra pilaris, juvenile |
Pityriasis rubra pilaris with onset in childhood, the majority of cases of which are the classical juvenile type III. |
MONDO:0100017 |
| MONDO:0973182 |
chronic chagas disease with heart involvement |
icd11.foundation:1857904825 |
MONDO:equivalentTo |
Chronic Chagas disease with heart involvement |
A disease caused by a chronic infection with the protozoan parasite Trypanosoma cruzi. This disease commonly presents with severe malaise or cardiac involvement (such as cardiomyopathy, cardiac failure, thromboembolism, bradyarrhythmias, tachyarrhythmias, apical aneurysms, or cardiac arrest). Transmission is by direct contact with faeces from an infected triatomine bug, vertical transmission, iatrogenic transmission, or ingestion of contaminated food or water. Confirmation is by identification of Trypanosoma cruzi in a blood sample. |
MONDO:0001444 |
| MONDO:0973183 |
congenital tumour of the serous pericardium |
icd11.foundation:1858297032 |
MONDO:equivalentTo |
Congenital tumour of the serous pericardium |
|
MONDO:0017300 |
| MONDO:0973184 |
proximal deletions of the long arm of chromosome 17 |
icd11.foundation:1858411904 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 17 |
|
MONDO:0016915 |
| MONDO:0973185 |
balanoposthitis due to infection |
icd11.foundation:1858528032 |
MONDO:equivalentTo |
Balanoposthitis due to infection |
|
MONDO:0001618 |
| MONDO:0973186 |
descending abdominal aortic aneurysm |
icd11.foundation:185865681 |
MONDO:equivalentTo |
Descending abdominal aortic aneurysm |
|
MONDO:0005350 |
| MONDO:0973187 |
calcific pancreatitis |
icd11.foundation:1858837569 |
MONDO:equivalentTo |
Calcific pancreatitis |
This is inflammation of the pancreas which requires immediate medical attention and hospitalization during an attack, which calcium salts build up in soft tissue, causing it to harden. |
MONDO:0005003 |
| MONDO:0973188 |
homozygous or compound heterozygous alpha0 thalassaemia |
icd11.foundation:1859849042 |
MONDO:equivalentTo |
Homozygous or compound heterozygous alpha0 thalassaemia |
Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterised by fetal onset of generalised oedema, pleural and pericardial effusions, and severe hypochromic anaemia. |
MONDO:0011399 |
| MONDO:0973189 |
thrombotic thrombocytopenic purpura specified as refractory |
icd11.foundation:1859851797 |
MONDO:equivalentTo |
Thrombotic thrombocytopenic purpura specified as refractory |
|
MONDO:0018896 |
| MONDO:0973190 |
severe combined immunodeficiency with low t- and b-cell numbers |
icd11.foundation:1860071271 |
MONDO:equivalentTo |
Severe combined immunodeficiency with low T- and B-cell numbers |
This is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. This diagnosis is with low T- and B- cell numbers. |
MONDO:0015974 |
| MONDO:0973191 |
hodgkin disease, nodular sclerosis, mixed cellularity |
icd11.foundation:1860458281 |
MONDO:equivalentTo |
Hodgkin disease, nodular sclerosis, mixed cellularity |
|
MONDO:0004665 |
| MONDO:0973192 |
alpha-1 antitrypsin deficiency panniculitis |
icd11.foundation:1860615577 |
MONDO:equivalentTo |
Alpha-1 antitrypsin deficiency panniculitis |
|
MONDO:0013282 |
| MONDO:0973193 |
posterior urethral stricture |
icd11.foundation:1861253872 |
MONDO:equivalentTo |
Posterior urethral stricture |
|
MONDO:0002127 |
| MONDO:0973194 |
other genetic defects of methionine cycle or sulfur amino acid metabolism |
icd11.foundation:1861281273 |
MONDO:equivalentTo |
Other genetic defects of methionine cycle or sulfur amino acid metabolism |
|
MONDO:0019222 |
| MONDO:0973195 |
von willebrand disease type 1 |
icd11.foundation:1861858008 |
MONDO:equivalentTo |
Von Willebrand disease type 1 |
Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterised by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF). The type 1 disease is considered to be the most common form of VWD, accounting for between 50 and 75% of cases but its prevalence is probably overestimated. Age of onset of bleeding anomalies varies, with earlier onset and more severe symptoms being associated with more severe VWF deficiency. |
MONDO:0019565 |
| MONDO:0973196 |
monomelic amyotrophy of lower limb |
icd11.foundation:1862074957 |
MONDO:equivalentTo |
Monomelic amyotrophy of lower limb |
Monomelic amyotrophy of the lower limbs is relatively rare. It is characterised by insidious onset of lower limb weakness and wasting, predominantly affecting the posterior calf and anterior thigh muscles. Like monomelic amyotrophy of the upper limb, it most frequently affects males, but unlike the upper limb variant, age of onset is typically older. Slow progression followed by stabilisation is the usual clinical course. |
MONDO:0011224 |
| MONDO:0973197 |
gingival papillary blunting |
icd11.foundation:1862678886 |
MONDO:equivalentTo |
Gingival papillary blunting |
|
MONDO:0020782 |
| MONDO:0973198 |
aural polyp |
icd11.foundation:1862905354 |
MONDO:equivalentTo |
Aural polyp |
|
MONDO:0004223 |
| MONDO:0973199 |
luft disease |
icd11.foundation:1863060210 |
MONDO:equivalentTo |
Luft disease |
Lufts disease is clinically characterised by hypermetabolism and consequent abnormal transpiration. The hypermetabolism is caused by extensive uncoupling of mitochondrial respiration in skeletal muscle tissue. Muscle mitochondria are structurally modified, with the cristae assuming a zig-zag conformation. This damage is conceived to be caused by a genetic defect preventing proper aggregation of the enzyme molecules in the cristae. |
MONDO:0009637 |
| MONDO:0973200 |
pulmonary hypertension due to lung disease or hypoxia |
icd11.foundation:1863674681 |
MONDO:equivalentTo |
Pulmonary hypertension due to lung disease or hypoxia |
#DRAFT# This is an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, together known as the lung vasculature, leading to shortness of breath, dizziness, fainting, and other symptoms, all of which are exacerbated by exertion, due to lung disease and/or hypoxia. |
MONDO:0005149 |
| MONDO:0973201 |
diffuse labyrinthitis |
icd11.foundation:1864428776 |
MONDO:equivalentTo |
Diffuse labyrinthitis |
|
MONDO:0002008 |
| MONDO:0973202 |
congenital club finger |
icd11.foundation:1864632138 |
MONDO:equivalentTo |
Congenital club finger |
|
MONDO:0007343 |
| MONDO:0973203 |
cerebral arteriovenous malformation |
icd11.foundation:1864708451 |
MONDO:equivalentTo |
Cerebral arteriovenous malformation |
|
MONDO:0007154 |
| MONDO:0973204 |
brca1/2-associated hereditary breast and ovarian cancer syndrome |
icd11.foundation:1864891002 |
MONDO:equivalentTo |
BRCA1/2-associated hereditary breast and ovarian cancer syndrome |
|
MONDO:0003582 |
| MONDO:0973205 |
transverse thoracic aortic aneurysm |
icd11.foundation:1865223084 |
MONDO:equivalentTo |
Transverse thoracic aortic aneurysm |
|
MONDO:0005396 |
| MONDO:0973206 |
x-linked intellectual deficit, sutherland-haan type |
icd11.foundation:1867166285 |
MONDO:equivalentTo |
X-linked intellectual deficit, Sutherland-Haan type |
|
MONDO:0010653 |
| MONDO:0973207 |
type iii cyst or choledochocele distal intramural dilation of the common bile duct within the duodenal wall |
icd11.foundation:186719966 |
MONDO:equivalentTo |
Type III Cyst or choledochocele distal intramural dilation of the common bile duct within the duodenal wall |
|
MONDO:0018805 |
| MONDO:0973208 |
acute pharyngitis due to other bacteria |
icd11.foundation:1868957860 |
MONDO:equivalentTo |
Acute pharyngitis due to other bacteria |
Rapid onset inflammation of the pharynx, (back of the throat, between the tonsils and the voicebox (larynx)) due to a specifically identified organism not classified elsewhere. |
MONDO:0020600 |
| MONDO:0973209 |
chronic obstructive pulmonary disease, unspecified, very severe airflow limitation |
icd11.foundation:1869027970 |
MONDO:equivalentTo |
Chronic obstructive pulmonary disease, unspecified, very severe airflow limitation |
Chronic obstructive pulmonary disease (COPD), unspecified, with very severe airflow limitation, FEV1 less than 30% predicted (post bronchodilator FEV1). |
MONDO:0005002 |
| MONDO:0973210 |
acral skin peeling syndrome |
icd11.foundation:1869724137 |
MONDO:equivalentTo |
Acral skin peeling syndrome |
Acral peeling skin syndrome is caused by mutations in the TGM5 gene, the product of which is transglutaminase 5, an enzyme which plays a critical role in the formation of the cornified cell envelope which surrounds keratinocytes in the upper epidermis and is vital to epidermal integrity. Skin peeling is usually evident from birth and is most noticeable on the hands and feet. |
MONDO:0019347 |
| MONDO:0973211 |
endocrine pancreatic manifestations of unspecified cystic fibrosis |
icd11.foundation:1870098646 |
MONDO:equivalentTo |
Endocrine pancreatic manifestations of unspecified cystic fibrosis |
|
MONDO:0009061 |
| MONDO:0973212 |
cocaine dependence, current use |
icd11.foundation:1870512253 |
MONDO:equivalentTo |
Cocaine dependence, current use |
Current cocaine dependence with cocaine use within the past month. |
MONDO:0005186 |
| MONDO:0973213 |
melanocytic naevus of ciliary body |
icd11.foundation:187289480 |
MONDO:equivalentTo |
Melanocytic naevus of ciliary body |
|
MONDO:0021486 |
| MONDO:0973214 |
symptomatic late neurosyphilis |
icd11.foundation:1873247529 |
MONDO:equivalentTo |
Symptomatic late neurosyphilis |
A diverse constellation of neuropsychiatric signs resulting from prolonged untreated or inadequately treated syphilis. The protean clinical manifestations include chronic, insidious meningeal inflammation with cranial nerve palsy, cognitive and/or behavioural impairment, ataxia, stroke, seizures and visual or auditory impairment. |
MONDO:0004944 |
| MONDO:0973215 |
bursitis with unknown aetiology, ankle or foot |
icd11.foundation:1875433984 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, ankle or foot |
|
MONDO:0002471 |
| MONDO:0973216 |
lattice corneal dystrophy type 2 |
icd11.foundation:1875924799 |
MONDO:equivalentTo |
Lattice corneal dystrophy type 2 |
Type II lattice corneal dystrophy (LCD2) is a rare form of stromal corneal dystrophy characterised by a network of delicate interdigitating branching filamentous opacities within the cornea with late-onset visual impairment and multiple systemic manifestations. |
MONDO:0004686 |
| MONDO:0973217 |
localised gingival recession |
icd11.foundation:1876151626 |
MONDO:equivalentTo |
Localised gingival recession |
|
MONDO:0001268 |
| MONDO:0973218 |
sensory apraxia |
icd11.foundation:1876243328 |
MONDO:equivalentTo |
Sensory apraxia |
|
MONDO:0000665 |
| MONDO:0973219 |
secondary cholangitis |
icd11.foundation:1876249967 |
MONDO:equivalentTo |
Secondary cholangitis |
|
MONDO:0004789 |
| MONDO:0973220 |
familial hypophosphataemic rickets |
icd11.foundation:1877106894 |
MONDO:equivalentTo |
Familial hypophosphataemic rickets |
|
MONDO:0000044 |
| MONDO:0973221 |
chronic mucous inflammation |
icd11.foundation:1877667198 |
MONDO:equivalentTo |
Chronic mucous inflammation |
|
MONDO:0004514 |
| MONDO:0973222 |
monomorphic ventricular tachycardia |
icd11.foundation:1877954311 |
MONDO:equivalentTo |
Monomorphic ventricular tachycardia |
Ventricular tachycardia with a uniform QRS morphology |
MONDO:0005477 |
| MONDO:0973223 |
idiopathic trigeminal neuralgia |
icd11.foundation:1878070600 |
MONDO:equivalentTo |
Idiopathic trigeminal neuralgia |
Idiopathic trigeminal neuralgia is a persistent facial pain that does not have the characteristics of cranial neuralgias and cannot be attributed to a different disorder |
MONDO:0008599 |
| MONDO:0973224 |
periostitis osteomyelitis |
icd11.foundation:187878755 |
MONDO:equivalentTo |
Periostitis osteomyelitis |
|
MONDO:0004934 |
| MONDO:0973225 |
outlet ventricular septal defect |
icd11.foundation:1879356291 |
MONDO:equivalentTo |
Outlet ventricular septal defect |
A congenital cardiac malformation in which there is a ventricular septal defect that opens to the outlet of the right ventricle between or above the limbs of the septal band. |
MONDO:0002070 |
| MONDO:0973226 |
secondary hypertension, unspecified, with mention of hypertensive crisis |
icd11.foundation:1880186925 |
MONDO:equivalentTo |
Secondary hypertension, unspecified, with mention of hypertensive crisis |
This is a type of hypertension which by definition is caused by an identifiable underlying secondary cause, unspecified, with mention of hypertensive crisis. |
MONDO:0001200 |
| MONDO:0973227 |
subacute bronchiolitis |
icd11.foundation:188143345 |
MONDO:equivalentTo |
Subacute bronchiolitis |
|
MONDO:0020680 |
| MONDO:0973228 |
endocarditis lenta |
icd11.foundation:1882391507 |
MONDO:equivalentTo |
Endocarditis lenta |
|
MONDO:0000565 |
| MONDO:0973229 |
total congenital cataract |
icd11.foundation:1882705814 |
MONDO:equivalentTo |
Total congenital cataract |
|
MONDO:0011060 |
| MONDO:0973230 |
sertoli cell tumour, unspecified site, male |
icd11.foundation:1882759944 |
MONDO:equivalentTo |
Sertoli cell tumour, unspecified site, male |
|
MONDO:0021447 |
| MONDO:0973231 |
phosphoenolpyruvate carboxykinase 2 deficiency |
icd11.foundation:1882770987 |
MONDO:equivalentTo |
Phosphoenolpyruvate carboxykinase 2 deficiency |
This is an enzyme in the lyase family used in the metabolic pathway of gluconeogenesis. It converts oxaloacetate into phosphoenolpyruvate and carbon dioxide. |
MONDO:0017320 |
| MONDO:0973232 |
pyuria, unknown cause |
icd11.foundation:1882817893 |
MONDO:equivalentTo |
Pyuria, unknown cause |
|
MONDO:0001953 |
| MONDO:0973233 |
mixed brucellosis infection |
icd11.foundation:1883087780 |
MONDO:equivalentTo |
Mixed brucellosis infection |
|
MONDO:0005683 |
| MONDO:0973234 |
laryngeal hypoplasia |
icd11.foundation:1883097685 |
MONDO:equivalentTo |
Laryngeal hypoplasia |
A condition caused by failure of the pharynx and larynx to correctly develop during the antenatal period. This condition is characterised by a narrowed airway and protrusion of intestines through the belly button. This condition may also present with high pitched voice, spinal curvature, or learning difficulties. |
MONDO:0015504 |
| MONDO:0973235 |
hodgkin disease, nodular sclerosis, lymphocyte predominance |
icd11.foundation:1885124397 |
MONDO:equivalentTo |
Hodgkin disease, nodular sclerosis, lymphocyte predominance |
|
MONDO:0004665 |
| MONDO:0973236 |
idiopathic aseptic osteonecrosis, hand |
icd11.foundation:1885188702 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, hand |
|
MONDO:0018380 |
| MONDO:0973237 |
duodenal ulcer due to diseases classified elsewhere |
icd11.foundation:1886894620 |
MONDO:equivalentTo |
Duodenal ulcer due to diseases classified elsewhere |
This is an ulcer or erosion of the duodenum due to other diseases, classified elsewhere, such as Crohn disease, sarcoidosis, vasculitis, or Zollinger-Ellison syndrome. |
MONDO:0005412 |
| MONDO:0973238 |
deafness - small bowel diverticulosis - neuropathy |
icd11.foundation:1887446084 |
MONDO:equivalentTo |
Deafness - small bowel diverticulosis - neuropathy |
Deafness - small bowel diverticulosis - neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). |
MONDO:0019589 |
| MONDO:0973239 |
facial ectodermal dysplasia |
icd11.foundation:1887676366 |
MONDO:equivalentTo |
Facial ectodermal dysplasia |
|
MONDO:0019287 |
| MONDO:0973240 |
16p13.11 deletion |
icd11.foundation:1887710902 |
MONDO:equivalentTo |
16p13.11 deletion |
16p13.11 microdeletion syndrome is a chromosomal anomaly characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. |
MONDO:0016894 |
| MONDO:0973241 |
borderline lepromatous leprosy |
icd11.foundation:1888276943 |
MONDO:equivalentTo |
Borderline lepromatous leprosy |
Borderline lepromatous (BL) leprosy is similar to lepromatous leprosy but the presence of some cell-mediated immune response to infection prevents the unfettered proliferation of bacilli in the skin. It is characterised by large numbers of poorly-defined macules, papules and plaques with a tendency to be distributed symmetrically. Neuropathy tends to be of a diffuse "glove and stocking" type. Initiation of treatment, however, may be accompanied by recovery of cell-mediated immunity and a risk of severe nerve damage (upgrading reaction/Type I reaction) [Dermatology TAG]. |
MONDO:0041751 |
| MONDO:0973242 |
papular amyloidosis |
icd11.foundation:1889504911 |
MONDO:equivalentTo |
Papular amyloidosis |
Papular amyloidosis (lichen amyloidosis) presents as multiple discrete, firm, pruritic, skin-coloured or hyperpigmented papules which have a tendency to coalesce into plaques. These are located most commonly on the shins though the thighs and upper extremities may also be affected. The amyloid material is thought to originate from degenerate keratinocytes. Papular amyloidosis tends to be persistent and resistant to treatment. |
MONDO:0019438 |
| MONDO:0973243 |
typhoid pneumonia |
icd11.foundation:1890032609 |
MONDO:equivalentTo |
Typhoid pneumonia |
|
MONDO:0005619 |
| MONDO:0973244 |
intercellular iga dermatosis |
icd11.foundation:1890076483 |
MONDO:equivalentTo |
Intercellular IgA dermatosis |
Intercellular IgA dermatosis is a chronic autoimmune skin disease characterised by blister formation on the skin. The exact causes of the disease are unknown but the disease is mediated by IgA class autoantibodies to desmosome components. |
MONDO:0006594 |
| MONDO:0973245 |
systemic lupus erythematosus with articular involvement |
icd11.foundation:1890110240 |
MONDO:equivalentTo |
Systemic lupus erythematosus with articular involvement |
|
MONDO:0007915 |
| MONDO:0973246 |
ophiasis |
icd11.foundation:1890631259 |
MONDO:equivalentTo |
Ophiasis |
A characteristic and often treatment resistant form of alopecia areata affecting the occipital scalp |
MONDO:0005340 |
| MONDO:0973247 |
caudal appendage - deafness |
icd11.foundation:189102363 |
MONDO:equivalentTo |
Caudal appendage - deafness |
Caudal appendage - deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. |
MONDO:0019589 |
| MONDO:0973248 |
charcot-marie-tooth type progressive muscular dystrophy |
icd11.foundation:1891358287 |
MONDO:equivalentTo |
Charcot-Marie-Tooth type progressive muscular dystrophy |
|
MONDO:0015358 |
| MONDO:0973249 |
autosomal recessive dyskeratosis congenita |
icd11.foundation:1891479790 |
MONDO:equivalentTo |
Autosomal recessive dyskeratosis congenita |
|
MONDO:0015780 |
| MONDO:0973250 |
deletions of chromosome 1 |
icd11.foundation:1891639339 |
MONDO:equivalentTo |
Deletions of chromosome 1 |
|
MONDO:0020054 |
| MONDO:0973251 |
intraepithelial neoplasia of appendix, high grade |
icd11.foundation:1892477705 |
MONDO:equivalentTo |
Intraepithelial neoplasia of appendix, high grade |
This is an epithelial neoplasm of appendix localised in the intraepithelium with high-grade dysplasia, characterised by the presence of marked cytological abnormalities and/or significant histological architectural complexity. |
MONDO:0021290 |
| MONDO:0973252 |
x-linked immunodeficiency with magnesium defect, epstein-barr virus infection or neoplasia |
icd11.foundation:1892618217 |
MONDO:equivalentTo |
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection or neoplasia |
|
MONDO:0015131 |
| MONDO:0973253 |
acute uraemic pyelitis |
icd11.foundation:1892858320 |
MONDO:equivalentTo |
Acute uraemic pyelitis |
|
MONDO:0003529 |
| MONDO:0973254 |
juvenile psoriatic arthritis, rheumatoid factor positive, hla b27 negative |
icd11.foundation:1892971189 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, rheumatoid factor positive, HLA B27 negative |
|
MONDO:0019436 |
| MONDO:0973255 |
postmenopausal osteoporosis, vertebral column |
icd11.foundation:1893247892 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, vertebral column |
|
MONDO:0008159 |
| MONDO:0973256 |
pleomorphic lipoma of unspecified site |
icd11.foundation:189328160 |
MONDO:equivalentTo |
Pleomorphic lipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0973257 |
neuropathic muscular atrophy |
icd11.foundation:1894339475 |
MONDO:equivalentTo |
Neuropathic muscular atrophy |
|
MONDO:0015358 |
| MONDO:0973258 |
amnestic disorder due to multiple aetiological factors |
icd11.foundation:1894566955 |
MONDO:equivalentTo |
Amnestic disorder due to multiple aetiological factors |
All definitional requirements for amnestic disorder are met. There is evidence from history, physical examination, or laboratory findings that the amnestic disorder is caused by multiple etiological factors, which may include the direct physiological consequences of disorders or diseases not classified under mental and behavioural disorders or the direct physiological effects of substances or medications. |
MONDO:0001152 |
| MONDO:0973259 |
isolated systolic secondary hypertension |
icd11.foundation:1894811648 |
MONDO:equivalentTo |
Isolated systolic secondary hypertension |
|
MONDO:0001200 |
| MONDO:0973260 |
mesomelic dwarfism - cleft palate - camptodactyly |
icd11.foundation:1895529415 |
MONDO:equivalentTo |
Mesomelic dwarfism - cleft palate - camptodactyly |
Mesomelic dwarfism - cleft palate - camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. |
MONDO:0019697 |
| MONDO:0973261 |
congenital deformities of wrist |
icd11.foundation:1896394245 |
MONDO:equivalentTo |
Congenital deformities of wrist |
|
MONDO:0017429 |
| MONDO:0973262 |
hereditary motor or sensory neuropathy type 5 |
icd11.foundation:1896398871 |
MONDO:equivalentTo |
Hereditary motor or sensory neuropathy type 5 |
|
MONDO:0015358 |
| MONDO:0973263 |
mosaicism, 45, x, 46, xx or xy |
icd11.foundation:1897256597 |
MONDO:equivalentTo |
Mosaicism, 45, X, 46, XX or XY |
A disease caused by embryonic fusion, or by the loss of one of the sex chromosomes from a cell early in embryonic development; Gonadal status: normal or variable abnormalities of sexual anatomy, maturation or function. Phenotype: normal, or abnormal sexual development. |
MONDO:0019499 |
| MONDO:0973264 |
trichinosis due to trichinella nativa |
icd11.foundation:1897836466 |
MONDO:equivalentTo |
Trichinosis due to Trichinella nativa |
|
MONDO:0019444 |
| MONDO:0973265 |
acute vulvitis |
icd11.foundation:1898428127 |
MONDO:equivalentTo |
Acute vulvitis |
|
MONDO:0007018 |
| MONDO:0973266 |
sequelae of frostbite of eye |
icd11.foundation:1898536415 |
MONDO:equivalentTo |
Sequelae of frostbite of eye |
|
MONDO:0800177 |
| MONDO:0973267 |
echinococcus infection of bone |
icd11.foundation:1899449819 |
MONDO:equivalentTo |
Echinococcus infection of bone |
|
MONDO:0005738 |
| MONDO:0973268 |
localised vascularization of cornea |
icd11.foundation:1899548190 |
MONDO:equivalentTo |
Localised vascularization of cornea |
|
MONDO:0006713 |
| MONDO:0973269 |
juvenile systemic arthritis, vertebral column |
icd11.foundation:190015066 |
MONDO:equivalentTo |
Juvenile systemic arthritis, vertebral column |
|
MONDO:0019434 |
| MONDO:0973270 |
t-lymphoblastic neoplasms |
icd11.foundation:1900959754 |
MONDO:equivalentTo |
T-lymphoblastic neoplasms |
|
MONDO:0020512 |
| MONDO:0973271 |
parenchymatous tonsillitis |
icd11.foundation:1901532155 |
MONDO:equivalentTo |
Parenchymatous tonsillitis |
|
MONDO:0020686 |
| MONDO:0973272 |
spondylolysis, occipito-atlanto-axial region |
icd11.foundation:1902864608 |
MONDO:equivalentTo |
Spondylolysis, occipito-atlanto-axial region |
|
MONDO:0005541 |
| MONDO:0973273 |
atresia of oesophagus with tracheo-oesophageal fistula |
icd11.foundation:1902983254 |
MONDO:equivalentTo |
Atresia of oesophagus with tracheo-oesophageal fistula |
Congenital anomaly with an interruption in the continuity of the oesophagus, with persistent communication (fistula) with the trachea. |
MONDO:0008586 |
| MONDO:0973274 |
asystolic cardiac arrest |
icd11.foundation:1903057237 |
MONDO:equivalentTo |
Asystolic cardiac arrest |
Absence of electrical activity of the heart resulting in hemodynamic collapse. |
MONDO:0000745 |
| MONDO:0973275 |
navajo neurohepatopathy |
icd11.foundation:1903524982 |
MONDO:equivalentTo |
Navajo neurohepatopathy |
|
MONDO:0100512 |
| MONDO:0973276 |
arrested dental caries |
icd11.foundation:1903605841 |
MONDO:equivalentTo |
Arrested dental caries |
carious lesions that have become inactive and stopped progressing; they may exhibit changes in colour and consistency |
MONDO:0005276 |
| MONDO:0973277 |
teratoid medulloepithelioma of unspecified site |
icd11.foundation:190398478 |
MONDO:equivalentTo |
Teratoid medulloepithelioma of unspecified site |
|
MONDO:0003144 |
| MONDO:0973278 |
calcific tendinitis, pelvic region or thigh |
icd11.foundation:1904884907 |
MONDO:equivalentTo |
Calcific tendinitis, pelvic region or thigh |
|
MONDO:0001903 |
| MONDO:0973279 |
gonococcal bursitis, skull |
icd11.foundation:1904958001 |
MONDO:equivalentTo |
Gonococcal bursitis, skull |
|
MONDO:0001719 |
| MONDO:0973280 |
hereditary ataxia-muscular atrophy syndrome |
icd11.foundation:1905647615 |
MONDO:equivalentTo |
Hereditary ataxia-muscular atrophy syndrome |
|
MONDO:0015358 |
| MONDO:0973281 |
superficial ulcer of cornea |
icd11.foundation:1906143065 |
MONDO:equivalentTo |
Superficial ulcer of cornea |
|
MONDO:0004577 |
| MONDO:0973282 |
desmin myopathy |
icd11.foundation:190618985 |
MONDO:equivalentTo |
Desmin myopathy |
Desmin myopathy is a class of muscle disorders produced by abnormal desmin and characterised by a disorganisation of the desmin filament network, the accumulation of insoluble desmin-containing aggregates, and destructive changes in the sarcomeric organisation of striated muscles. The clinical phenotypes are heterogeneous, with progressive skeletal myopathy, cardiomyopathy, and respiratory insufficiency as the most prominent features. Most of the desmin mutations are autosomal dominant. |
MONDO:0018943 |
| MONDO:0973283 |
nervous depression |
icd11.foundation:1907460696 |
MONDO:equivalentTo |
Nervous depression |
|
MONDO:0001442 |
| MONDO:0973284 |
adult-onset still disease, pelvic region or thigh |
icd11.foundation:1907518920 |
MONDO:equivalentTo |
Adult-onset Still disease, pelvic region or thigh |
|
MONDO:0019355 |
| MONDO:0973285 |
apocrine hidrocystoma |
icd11.foundation:190815784 |
MONDO:equivalentTo |
Apocrine hidrocystoma |
|
MONDO:0006787 |
| MONDO:0973286 |
dandy-walker malformation without hydrocephalus |
icd11.foundation:1908706613 |
MONDO:equivalentTo |
Dandy-Walker malformation without hydrocephalus |
|
MONDO:0009072 |
| MONDO:0973287 |
bh4-responsive phenylketonuria |
icd11.foundation:1909085274 |
MONDO:equivalentTo |
BH4-responsive phenylketonuria |
|
MONDO:0009861 |
| MONDO:0973288 |
autosomal recessive hyperimmunoglobulin e syndrome |
icd11.foundation:1909398175 |
MONDO:equivalentTo |
Autosomal recessive hyperimmunoglobulin E syndrome |
Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterised by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; ), but other features such as persistent cutaneous viral infections are unique to AR-HIES. |
MONDO:0018037 |
| MONDO:0973289 |
distal symphalangism, unilateral |
icd11.foundation:1909670729 |
MONDO:equivalentTo |
Distal symphalangism, unilateral |
|
MONDO:0008509 |
| MONDO:0973290 |
long qt syndrome type 4 |
icd11.foundation:1910533777 |
MONDO:equivalentTo |
Long QT syndrome type 4 |
|
MONDO:0019171 |
| MONDO:0973291 |
tuberculous enteritis |
icd11.foundation:191056506 |
MONDO:equivalentTo |
Tuberculous enteritis |
|
MONDO:0957466 |
| MONDO:0973292 |
type iv b multiple extrahepatic bile duct dilatations |
icd11.foundation:191059520 |
MONDO:equivalentTo |
Type IV B Multiple extrahepatic bile duct dilatations |
|
MONDO:0018805 |
| MONDO:0973293 |
alternating exotropia with v pattern |
icd11.foundation:1910623034 |
MONDO:equivalentTo |
Alternating exotropia with V pattern |
Alternating exotropia with a V pattern is an abnormal binocular alignment in which one of the eyes alternately has an outward deviation. The additional descriptive feature of the presence of a V pattern is specified in which the eyes are more deviated in upgaze and less deviated in downgaze. |
MONDO:0001286 |
| MONDO:0973294 |
coronary atherosclerosis of native coronary artery |
icd11.foundation:1911344636 |
MONDO:equivalentTo |
Coronary atherosclerosis of native coronary artery |
Atherosclerotic lesions, or atherosclerotic plaques of native coronary artery. |
MONDO:0021661 |
| MONDO:0973295 |
congenital deformities of ankle |
icd11.foundation:1911379605 |
MONDO:equivalentTo |
Congenital deformities of ankle |
|
MONDO:0017429 |
| MONDO:0973296 |
postmenopausal osteoporosis, shoulder region |
icd11.foundation:1913222663 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, shoulder region |
|
MONDO:0008159 |
| MONDO:0973297 |
total anomalous pulmonary venous connection of the supracardiac type |
icd11.foundation:1914403600 |
MONDO:equivalentTo |
Total anomalous pulmonary venous connection of the supracardiac type |
A congenital cardiovascular malformation with total anomalous pulmonary venous connection to the superior caval vein (superior vena cava) or one of its venous tributaries. |
MONDO:0007130 |
| MONDO:0973298 |
nerve entrapment syndrome, not elsewhere classified |
icd11.foundation:1914474454 |
MONDO:equivalentTo |
Nerve entrapment syndrome, not elsewhere classified |
|
MONDO:0001397 |
| MONDO:0973299 |
immunodeficiencies with severe reduction in at least two serum immunoglobulin isotypes with normal or low numbers of b cells |
icd11.foundation:1915135976 |
MONDO:equivalentTo |
Immunodeficiencies with severe reduction in at least two serum immunoglobulin isotypes with normal or low numbers of B cells |
This refers to a nonfamilial type of primary immune deficiency disease characterised by a reduction in at least two serum immunoglobulin isotypes. Circulating B cells may be normal or low. |
MONDO:0015132 |
| MONDO:0973300 |
osteochondrosis of head of femur |
icd11.foundation:1915809570 |
MONDO:equivalentTo |
Osteochondrosis of head of femur |
|
MONDO:0018381 |
| MONDO:0973301 |
post traumatic pulmonary insufficiency |
icd11.foundation:1915889321 |
MONDO:equivalentTo |
Post traumatic pulmonary insufficiency |
|
MONDO:0100130 |
| MONDO:0973302 |
acute mediastinitis |
icd11.foundation:1916221484 |
MONDO:equivalentTo |
Acute mediastinitis |
|
MONDO:0004492 |
| MONDO:0973303 |
mycosis fungoides with limited patches or plaques |
icd11.foundation:1916946013 |
MONDO:equivalentTo |
Mycosis fungoides with limited patches or plaques |
Mycosis fungoides with patches, papules and/or plaques affecting less than 10 % of body surface |
MONDO:0009691 |
| MONDO:0973304 |
carrion disease |
icd11.foundation:1917297026 |
MONDO:equivalentTo |
Carrion disease |
Infection by Bartonella bacilliformis which can present as a systemic illness, Oroya fever, or as a benign skin eruption, verruga peruana. |
MONDO:0005664 |
| MONDO:0973305 |
combined diastolic and systolic hypertension |
icd11.foundation:1917449952 |
MONDO:equivalentTo |
Combined diastolic and systolic hypertension |
|
MONDO:0001134 |
| MONDO:0973306 |
hereditary angioedema type i |
icd11.foundation:1918767567 |
MONDO:equivalentTo |
Hereditary angioedema type I |
Hereditary angioedema associated with gene mutations resulting in reduced production of C1 inhibitor. |
MONDO:0019623 |
| MONDO:0973307 |
psoriasis of specified site or distribution |
icd11.foundation:1918887625 |
MONDO:equivalentTo |
Psoriasis of specified site or distribution |
The appearance, management and impact of psoriasis can vary considerably according to its location. Important variants are listed under this heading. |
MONDO:0005083 |
| MONDO:0973308 |
benign neoplasm of glans penis |
icd11.foundation:1919602481 |
MONDO:equivalentTo |
Benign neoplasm of glans penis |
|
MONDO:0021458 |
| MONDO:0973309 |
neuroendocrine tumour of anus or anal canal |
icd11.foundation:1920193598 |
MONDO:equivalentTo |
Neuroendocrine tumour of anus or anal canal |
|
MONDO:0015069 |
| MONDO:0973310 |
juvenile elastoma |
icd11.foundation:1920950653 |
MONDO:equivalentTo |
Juvenile elastoma |
|
MONDO:0016442 |
| MONDO:0973311 |
chronic epiglottiditis |
icd11.foundation:1921163394 |
MONDO:equivalentTo |
Chronic epiglottiditis |
|
MONDO:0001369 |
| MONDO:0973312 |
premenopausal idiopathic osteoporosis |
icd11.foundation:1921460797 |
MONDO:equivalentTo |
Premenopausal idiopathic osteoporosis |
|
MONDO:0005298 |
| MONDO:0973313 |
single transverse myelitis aquaporin-4 antibody positive |
icd11.foundation:1921504316 |
MONDO:equivalentTo |
Single transverse myelitis aquaporin-4 antibody positive |
A single episode of transverse myelitis which is typically longitudinally extensive (>3 vertebral segments) associated with seropositivity for aquaporin-4 antibodies but without sufficient features to fulfill the 2006 NMO diagnostic criteria. |
MONDO:0019100 |
| MONDO:0973314 |
induced pemphigus |
icd11.foundation:1923048552 |
MONDO:equivalentTo |
Induced pemphigus |
Induced pemphigus is a chronic autoimmune skin diseases characterised by superficial blister formation precipitated by an exogenous stimulus, usually a drug, mediated by auto-antibodies to the desmosome components desmoglein 1 and less commonly desmoglein 3. |
MONDO:0006594 |
| MONDO:0973315 |
congenital gynatresia |
icd11.foundation:1924121649 |
MONDO:equivalentTo |
Congenital gynatresia |
|
MONDO:0015845 |
| MONDO:0973316 |
deletions of chromosome 20 |
icd11.foundation:1924861008 |
MONDO:equivalentTo |
Deletions of chromosome 20 |
|
MONDO:0020054 |
| MONDO:0973317 |
nephrogenic diabetes insipidus associated with familial or genetic disorders elsewhere classified |
icd11.foundation:1924866731 |
MONDO:equivalentTo |
Nephrogenic Diabetes Insipidus associated with familial or genetic disorders elsewhere classified |
|
MONDO:0016383 |
| MONDO:0973318 |
systemic or invasive sporotrichosis |
icd11.foundation:1925608939 |
MONDO:equivalentTo |
Systemic or invasive sporotrichosis |
This is a disease caused by the infection of the fungus Sporothrix schenckii. This fungal disease usually affects the skin, although other rare forms can affect the lungs, joints, bones, and even the brain. This diagnosis is systemic and invasive. |
MONDO:0005968 |
| MONDO:0973319 |
3m syndrome |
icd11.foundation:1926529492 |
MONDO:equivalentTo |
3M syndrome |
3M syndrome combines pre- and post-natal proportionate growth retardation, characteristic facial dysmorphism (known as 'gloomy facies'') and radiological abnormalities (slender long bones and ribs, and foreshortened vertebral bodies). |
MONDO:0019699 |
| MONDO:0973320 |
transposition of the great arteries with concordant atrioventricular connections and intact ventricular septum |
icd11.foundation:1927702340 |
MONDO:equivalentTo |
Transposition of the great arteries with concordant atrioventricular connections and intact ventricular septum |
A congenital cardiovascular malformation in which the morphologically right atrium connects to the morphologically right ventricle, the morphologically left atrium connects to the morphologically left ventricle, the morphologically right ventricle connects to the aorta, the morphologically left ventricle connects to the pulmonary trunk, and a ventricular septal defect is not present. |
MONDO:0000153 |
| MONDO:0973321 |
catamenial pericardial effusion |
icd11.foundation:1928072884 |
MONDO:equivalentTo |
Catamenial pericardial effusion |
|
MONDO:0001370 |
| MONDO:0973322 |
deficiency of methionine adenosyltransferase |
icd11.foundation:1928209293 |
MONDO:equivalentTo |
Deficiency of methionine adenosyltransferase |
|
MONDO:0019222 |
| MONDO:0973323 |
multiple epiphyseal dysplasia with miniepiphyses |
icd11.foundation:1929277234 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia with miniepiphyses |
|
MONDO:0016648 |
| MONDO:0973324 |
primary sclerosing cholangitis with cirrhosis |
icd11.foundation:1929388030 |
MONDO:equivalentTo |
Primary sclerosing cholangitis with cirrhosis |
Primary sclerosing cholangitis with cirrhosis is primary sclerosing cholangitis complicated with liver cirrhosis. |
MONDO:0013433 |
| MONDO:0973325 |
skeletal fluorosis, ankle or foot |
icd11.foundation:1929506010 |
MONDO:equivalentTo |
Skeletal fluorosis, ankle or foot |
|
MONDO:0400003 |
| MONDO:0973326 |
trismus - pseudocamptodactyly |
icd11.foundation:1929876169 |
MONDO:equivalentTo |
Trismus - pseudocamptodactyly |
|
MONDO:0019942 |
| MONDO:0973327 |
generalised gingival recession |
icd11.foundation:193059135 |
MONDO:equivalentTo |
Generalised gingival recession |
|
MONDO:0001268 |
| MONDO:0973328 |
postpyloric ulcer |
icd11.foundation:1930628679 |
MONDO:equivalentTo |
Postpyloric ulcer |
|
MONDO:0005412 |
| MONDO:0973329 |
microtia type 2 |
icd11.foundation:1931174920 |
MONDO:equivalentTo |
Microtia Type 2 |
|
MONDO:0010920 |
| MONDO:0973330 |
palpebral cleft or coloboma, bilateral |
icd11.foundation:1932257802 |
MONDO:equivalentTo |
Palpebral cleft or coloboma, bilateral |
This is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. This diagnosis is occurring in both eyes (bilateral). |
MONDO:0020357 |
| MONDO:0973331 |
invasive cutaneous aspergillosis |
icd11.foundation:193246692 |
MONDO:equivalentTo |
Invasive cutaneous aspergillosis |
|
MONDO:0000240 |
| MONDO:0973332 |
mild alpha thalassaemia diseases |
icd11.foundation:1932608766 |
MONDO:equivalentTo |
Mild alpha thalassaemia diseases |
A disease caused by genetically inherited factors affecting the alpha chain of the haemoglobin molecule. This disease is characterised by structural abnormalities of the haemoglobin molecule. This disease may present with mild anaemia: pallor, fatigue, shortness of breath. Confirmation is by identification of changes to the alpha chain by genetic testing. |
MONDO:0011399 |
| MONDO:0973333 |
chronic emphysematous bronchitis, not otherwise specified |
icd11.foundation:1933733055 |
MONDO:equivalentTo |
Chronic emphysematous bronchitis, not otherwise specified |
|
MONDO:0005607 |
| MONDO:0973334 |
glycogen storage disease due to muscle glycogen phosphorylase deficiency |
icd11.foundation:1934070304 |
MONDO:equivalentTo |
Glycogen storage disease due to muscle glycogen phosphorylase deficiency |
Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterised by exercise intolerance with myalgia, cramps, fatigue, and muscle weakness. |
MONDO:0002412 |
| MONDO:0973335 |
cyst of submandibular gland |
icd11.foundation:1934278255 |
MONDO:equivalentTo |
Cyst of submandibular gland |
|
MONDO:0001600 |
| MONDO:0973336 |
juvenile psoriatic arthritis, ankle or foot |
icd11.foundation:1934363613 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, ankle or foot |
|
MONDO:0019436 |
| MONDO:0973337 |
mitral regurgitation - deafness - skeletal anomalies |
icd11.foundation:1935230135 |
MONDO:equivalentTo |
Mitral regurgitation - deafness - skeletal anomalies |
Cardiospondylocarpofacial syndrome is characterised by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). |
MONDO:0019589 |
| MONDO:0973338 |
achondrogenesis type 2 |
icd11.foundation:1935291412 |
MONDO:equivalentTo |
Achondrogenesis type 2 |
Achondrogenesis type 2, a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterised by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. |
MONDO:0019648 |
| MONDO:0973339 |
congenital skull deformity with microcephaly |
icd11.foundation:1935621704 |
MONDO:equivalentTo |
Congenital skull deformity with microcephaly |
|
MONDO:0001149 |
| MONDO:0973340 |
chronic urticaria due to other specified mechanism |
icd11.foundation:1937043773 |
MONDO:equivalentTo |
Chronic urticaria due to other specified mechanism |
Chronic urticaria due to an identifiable cause that is not autoimmunity, infection or pseudoallergy. |
MONDO:0850230 |
| MONDO:0973341 |
proximal deletions of the long arm of chromosome 5 |
icd11.foundation:1937437974 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 5 |
|
MONDO:0016904 |
| MONDO:0973342 |
adhesive bursitis |
icd11.foundation:1937549556 |
MONDO:equivalentTo |
Adhesive bursitis |
|
MONDO:0002471 |
| MONDO:0973343 |
chondromalacia, multiple sites |
icd11.foundation:1937710450 |
MONDO:equivalentTo |
Chondromalacia, multiple sites |
|
MONDO:0002342 |
| MONDO:0973344 |
idiopathic copper toxicosis |
icd11.foundation:1938566558 |
MONDO:equivalentTo |
Idiopathic copper toxicosis |
|
MONDO:0016204 |
| MONDO:0973345 |
immune thrombocytopenic purpura specified as refractory |
icd11.foundation:193874238 |
MONDO:equivalentTo |
Immune thrombocytopenic purpura specified as refractory |
|
MONDO:0008558 |
| MONDO:0973346 |
acute myeloid leukaemia with t(9;11)(p22;q23); mllt3-mll |
icd11.foundation:1939292379 |
MONDO:equivalentTo |
Acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL |
An acute myeloid leukaemia associated with t(9;11)(p22;q23) and MLLT3 (AF9)-MLL fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation. |
MONDO:0020078 |
| MONDO:0973347 |
benign neoplasm of rathke pouch |
icd11.foundation:1939509223 |
MONDO:equivalentTo |
Benign neoplasm of Rathke pouch |
|
MONDO:0021439 |
| MONDO:0973348 |
calcific tendinitis, neck |
icd11.foundation:1939575854 |
MONDO:equivalentTo |
Calcific tendinitis, neck |
|
MONDO:0001903 |
| MONDO:0973349 |
acute tonsillitis due to other specified organisms |
icd11.foundation:1939783715 |
MONDO:equivalentTo |
Acute tonsillitis due to other specified organisms |
|
MONDO:0020686 |
| MONDO:0973350 |
poikilodermatous mycosis fungoides |
icd11.foundation:1941401188 |
MONDO:equivalentTo |
Poikilodermatous mycosis fungoides |
|
MONDO:0015821 |
| MONDO:0973351 |
pulmonary mucormycosis |
icd11.foundation:1941509730 |
MONDO:equivalentTo |
Pulmonary mucormycosis |
This is any fungal infection caused by fungi in the order Mucorales. Generally, species in the Mucor, Rhizopus, Absidia, and Cunninghamella genera are most often implicated. This disease is often characterised by hyphae growing in and around vessels. This diagnosis is pulmonary. |
MONDO:0019136 |
| MONDO:0973352 |
mild hyperphenylalaninaemia |
icd11.foundation:1941919313 |
MONDO:equivalentTo |
Mild hyperphenylalaninaemia |
Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterised by mild symptoms of HPA. |
MONDO:0009861 |
| MONDO:0973353 |
dilated cardiomyopathy due to end-stage valve disease |
icd11.foundation:1941968153 |
MONDO:equivalentTo |
Dilated cardiomyopathy due to end-stage valve disease |
Dilated cardiomyopathy due to end-stage valve disease is ventricular dilation and dysfunction consequent to severe, chronic valvar regurgitation and/or stenosis that exceeds the severity expected for the severity of hemodynamic overload. |
MONDO:0016338 |
| MONDO:0973354 |
bilateral generalised polymicrogyria |
icd11.foundation:194203879 |
MONDO:equivalentTo |
Bilateral generalised polymicrogyria |
|
MONDO:0017091 |
| MONDO:0973355 |
sphenoidal sinus abscess |
icd11.foundation:1942262167 |
MONDO:equivalentTo |
Sphenoidal sinus abscess |
|
MONDO:0001123 |
| MONDO:0973356 |
unspecified frostbite of arm |
icd11.foundation:1942273754 |
MONDO:equivalentTo |
Unspecified frostbite of arm |
|
MONDO:0800177 |
| MONDO:0973357 |
stagnant loop syndrome |
icd11.foundation:1942420073 |
MONDO:equivalentTo |
Stagnant loop syndrome |
|
MONDO:0005673 |
| MONDO:0973358 |
primary biliary cholangitis without overlap syndrome |
icd11.foundation:1942425362 |
MONDO:equivalentTo |
Primary biliary cholangitis without overlap syndrome |
|
MONDO:0005388 |
| MONDO:0973359 |
severe combined immunodeficiency with reticular dysgenesis |
icd11.foundation:194355955 |
MONDO:equivalentTo |
Severe combined immunodeficiency with reticular dysgenesis |
Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterised by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicaemia within days after birth if not treated. |
MONDO:0015974 |
| MONDO:0973360 |
rectosigmoid hirschsprung disease |
icd11.foundation:1944939183 |
MONDO:equivalentTo |
Rectosigmoid Hirschsprung disease |
A subtype of Hirschsprung disease, in which lesion is confined to the rectosigmoid region of the colon. |
MONDO:0018309 |
| MONDO:0973361 |
atresia of nasopharynx |
icd11.foundation:1945378434 |
MONDO:equivalentTo |
Atresia of nasopharynx |
|
MONDO:0015503 |
| MONDO:0973362 |
mitochondrial dna deletion ataxia neuropathy spectrum |
icd11.foundation:1946171771 |
MONDO:equivalentTo |
Mitochondrial DNA deletion ataxia neuropathy spectrum |
This is the DNA located in organelles called mitochondria, structures within eukaryotic cells that convert the chemical energy from food into a form that cells can use, adenosine triphosphate (ATP). This diagnosis is with deletion ataxia neuropathy spectrum. |
MONDO:0016797 |
| MONDO:0973363 |
alps-kras |
icd11.foundation:1946506628 |
MONDO:equivalentTo |
ALPS-KRAS |
|
MONDO:0017979 |
| MONDO:0973364 |
neuroendocrine carcinoma of appendix |
icd11.foundation:1946662084 |
MONDO:equivalentTo |
Neuroendocrine carcinoma of appendix |
Neoplasms that arise from the cells of neuroendocrine system lining the small intestine including poorly-differentiated (high grade) neuroendocrine carcinomas. |
MONDO:0015066 |
| MONDO:0973365 |
necrotising enterocolitis of newborn, stage 2a & b |
icd11.foundation:1946662186 |
MONDO:equivalentTo |
Necrotising enterocolitis of newborn, Stage 2A & B |
|
MONDO:0005313 |
| MONDO:0973366 |
genetic susceptibility to particular pathogens |
icd11.foundation:1946750030 |
MONDO:equivalentTo |
Genetic susceptibility to particular pathogens |
|
MONDO:0015135 |
| MONDO:0973367 |
necrotising polymyositis |
icd11.foundation:194675725 |
MONDO:equivalentTo |
Necrotising polymyositis |
Necrotising polymyositis is an immune inflammatory muscle disorders characterised by high CK level, moderate to severe muscle weakness of acute or subacute onset and with histological features of muscle fibre necrosis mediated by macrophages as the main effector cell. There are no T cell infiltrates or MHC-I expression. However, some patients have antibodies against signal recognition particles (SRP). The disease is multifactorial: cancer, viral infection, use of statins, exposure to toxic agents, or underlying autoimmune process; others have no other disease or apparent exposure to exogenous agents. |
MONDO:0019127 |
| MONDO:0973368 |
necrotising scleritis without inflammation |
icd11.foundation:1946889582 |
MONDO:equivalentTo |
Necrotising scleritis without inflammation |
|
MONDO:0001718 |
| MONDO:0973369 |
juvenile psoriatic arthritis, forearm |
icd11.foundation:1947191478 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, forearm |
|
MONDO:0019436 |
| MONDO:0973370 |
beta thalassaemia intermedia |
icd11.foundation:1947619935 |
MONDO:equivalentTo |
Beta thalassaemia intermedia |
Beta-thalassemia intermedia is a form of beta-thalassemia (see this term) characterised by mild to moderate anaemia which does not or only occasionally requires transfusion. |
MONDO:0019402 |
| MONDO:0973371 |
duodenocholangitis |
icd11.foundation:194782130 |
MONDO:equivalentTo |
Duodenocholangitis |
|
MONDO:0004789 |
| MONDO:0973372 |
pyruvate dehydrogenase complex e3 subunit deficiency |
icd11.foundation:1948020523 |
MONDO:equivalentTo |
Pyruvate dehydrogenase complex E3 subunit deficiency |
Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, ) characterised by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. |
MONDO:0019169 |
| MONDO:0973373 |
proximal duplications of the long arm of chromosome 8 |
icd11.foundation:194951453 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 8 |
|
MONDO:0016959 |
| MONDO:0973374 |
anti-synthetase syndrome with polymyositis |
icd11.foundation:1949745299 |
MONDO:equivalentTo |
Anti-synthetase syndrome with polymyositis |
Anti-synthetase syndrome with polymyositis is an inflammatory muscle disease associated with antisynthetase autoantibodies, being the anti-Jo-1 autoantibodies the most common anti-synthetase autoantibody. These patients have a constellation of symptoms, including myalgias, muscle weakness, and a combination of core symptoms, including interstitial lung disease, Raynaud phenomenon, seronegative arthritis of the distal joints, fever, mechanics hands, and a skin rash different from the heliotrope erythema seen in dermatomyositis. |
MONDO:0019127 |
| MONDO:0973375 |
chondromalacia, hand |
icd11.foundation:1950146075 |
MONDO:equivalentTo |
Chondromalacia, hand |
|
MONDO:0002342 |
| MONDO:0973376 |
skeletal fluorosis, forearm |
icd11.foundation:1950494641 |
MONDO:equivalentTo |
Skeletal fluorosis, forearm |
|
MONDO:0400003 |
| MONDO:0973377 |
hyperhydroxyprolinaemia |
icd11.foundation:1950850240 |
MONDO:equivalentTo |
Hyperhydroxyprolinaemia |
|
MONDO:0017355 |
| MONDO:0973378 |
infection by diphyllobothrium pacificum |
icd11.foundation:1950898024 |
MONDO:equivalentTo |
Infection by diphyllobothrium pacificum |
|
MONDO:0015260 |
| MONDO:0973379 |
limb-girdle muscular dystrophy 2i, fukutin related protein gene mutation |
icd11.foundation:1951243194 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2I, fukutin related protein gene mutation |
Limb girdle muscular dystrophy (LGMD) type 2I belongs to the group of limb girdle muscular dystrophies which are genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved and is characterised by a clinical spectrum ranging from severe congenital muscular dystrophy to mild forms of limb girdle muscular dystrophy. |
MONDO:0015152 |
| MONDO:0973380 |
coralliform cataract |
icd11.foundation:1951596505 |
MONDO:equivalentTo |
Coralliform cataract |
|
MONDO:0011060 |
| MONDO:0973381 |
mixed phenotype acute leukaemia with t(9;22) (q34;q11.2); bcr-abl1 |
icd11.foundation:1951762156 |
MONDO:equivalentTo |
Mixed phenotype acute leukaemia with t(9;22) (q34;q11.2); BCR-ABL1 |
A rare mixed phenotype acute leukaemia in which the blasts also carry the translocation (9;22)(q34;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. The prognosis is usually unfavorable. |
MONDO:0019460 |
| MONDO:0973382 |
galli-galli disease |
icd11.foundation:1952583354 |
MONDO:equivalentTo |
Galli-Galli disease |
|
MONDO:0008371 |
| MONDO:0973383 |
temperature sensitive oculocutaneous albinism |
icd11.foundation:1954386024 |
MONDO:equivalentTo |
Temperature sensitive oculocutaneous albinism |
This type of OCA is characterised by white hair in the warmer areas (scalp and axillae) and progressively darker hair in the cooler areas (extremities) of the body. Tyrosinase assay demonstrates a loss of activity above 35-37 degrees Celsius. |
MONDO:0011749 |
| MONDO:0973384 |
2p21 deletion |
icd11.foundation:1956669459 |
MONDO:equivalentTo |
2p21 deletion |
The 2p21 microdeletion syndrome is a chromosomal anomaly that consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. |
MONDO:0016884 |
| MONDO:0973385 |
neuronal ceroid lipofuscinosis type 10 |
icd11.foundation:1956939722 |
MONDO:equivalentTo |
Neuronal ceroid lipofuscinosis type 10 |
|
MONDO:0016295 |
| MONDO:0973386 |
congenital bile acid synthesis defect type 4 |
icd11.foundation:1957485343 |
MONDO:equivalentTo |
Congenital bile acid synthesis defect type 4 |
Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis characterised by mild cholestatic liver disease, fat malabsorption and/or neurological disease. |
MONDO:0015581 |
| MONDO:0973387 |
primary gout |
icd11.foundation:1957497923 |
MONDO:equivalentTo |
Primary gout |
Primary gout refers to those cases that appear to be innate, that are neither secondary to another acquired disorder nor a subordinate manifestation of an inborn error that leads initially to a major disease unlike gout. Although some cases of primary gout have a genetic basis, others do not. |
MONDO:0019236 |
| MONDO:0973388 |
acute subglottic laryngitis |
icd11.foundation:1957660283 |
MONDO:equivalentTo |
Acute subglottic laryngitis |
|
MONDO:0004777 |
| MONDO:0973389 |
pneumonia in q fever |
icd11.foundation:1958529348 |
MONDO:equivalentTo |
Pneumonia in Q fever |
A type of bacterial pneumonia caused by Coxiella burnetii. Infection usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, and excreta of infected animals such as cattle, sheep, and goats. |
MONDO:0019186 |
| MONDO:0973390 |
eclampsia in the puerperium |
icd11.foundation:1959180957 |
MONDO:equivalentTo |
Eclampsia in the puerperium |
This condition is characterised by seizure or convulsions newly arising in pregnancy. The condition is often associated with pregnancy-induced hypertension, convulsions, seizure, anxiety, epigastric pain, severe headache, blurred vision, proteinuria, and oedema that occurs during the puerperium. |
MONDO:0001754 |
| MONDO:0973391 |
pulmonary infection due to mycobacterium xenopi |
icd11.foundation:1959568836 |
MONDO:equivalentTo |
Pulmonary infection due to Mycobacterium xenopi |
|
MONDO:0018469 |
| MONDO:0973392 |
congenital absence, atresia or stenosis of jejunum |
icd11.foundation:1960211261 |
MONDO:equivalentTo |
Congenital absence, atresia or stenosis of jejunum |
Malformation of the jejunum, the second part of the intestine extending from the duodenum to the ileum. This refers to congenital absence, obstruction with complete occlusion of the intestinal lumen (atresia), or partial occlusion with incomplete obstruction (stenosis) of jejunum. Jejunal atresias have a strong familial tendency, especially the apple peel type. Jejunal atresia is more associated with other somatic malformations than other bowel atresias. |
MONDO:0009476 |
| MONDO:0973393 |
chronic papillary conjunctivitis, vernaltivitis |
icd11.foundation:1960511944 |
MONDO:equivalentTo |
Chronic papillary conjunctivitis, vernaltivitis |
|
MONDO:0002309 |
| MONDO:0973394 |
femoral agenesis or hypoplasia, unilateral |
icd11.foundation:1960537281 |
MONDO:equivalentTo |
Femoral agenesis or hypoplasia, unilateral |
|
MONDO:0016032 |
| MONDO:0973395 |
disseminated mucormycosis |
icd11.foundation:1962595593 |
MONDO:equivalentTo |
Disseminated mucormycosis |
This is any fungal infection caused by fungi in the order Mucorales. Generally, species in the Mucor, Rhizopus, Absidia, and Cunninghamella genera are most often implicated. This disease is often characterised by hyphae growing in and around vessels. This diagnosis is disseminated. |
MONDO:0019136 |
| MONDO:0973396 |
superior limbal keratoconjunctivitis |
icd11.foundation:1962803547 |
MONDO:equivalentTo |
Superior Limbal Keratoconjunctivitis |
|
MONDO:0003799 |
| MONDO:0973397 |
squamous cell carcinomas involving overlapping sites of hypopharynx |
icd11.foundation:196281205 |
MONDO:equivalentTo |
Squamous cell carcinomas involving overlapping sites of hypopharynx |
|
MONDO:0044638 |
| MONDO:0973398 |
polyp of labia |
icd11.foundation:1962943237 |
MONDO:equivalentTo |
Polyp of labia |
|
MONDO:0021396 |
| MONDO:0973399 |
follicular lichen planus |
icd11.foundation:1963050127 |
MONDO:equivalentTo |
Follicular lichen planus |
Lichen planus involving the hair follicle rather than the epidermis. It typically involves the scalp but may be seen elsewhere. Clinically it presents as grouped small, slightly scaly erythematous follicular papules. |
MONDO:0006572 |
| MONDO:0973400 |
benign neoplasm of renal calyces |
icd11.foundation:1963265942 |
MONDO:equivalentTo |
Benign neoplasm of renal calyces |
|
MONDO:0021467 |
| MONDO:0973401 |
dermo-odontodysplasia |
icd11.foundation:1963707662 |
MONDO:equivalentTo |
Dermo-odontodysplasia |
Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias and is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. |
MONDO:0019287 |
| MONDO:0973402 |
paternal uniparental disomy of chromosome 11 |
icd11.foundation:1963764453 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome 11 |
|
MONDO:0020057 |
| MONDO:0973403 |
ochronotic arthritis |
icd11.foundation:196391255 |
MONDO:equivalentTo |
Ochronotic arthritis |
|
MONDO:0008753 |
| MONDO:0973404 |
short bowel syndrome with colon-in-continuity |
icd11.foundation:1964331707 |
MONDO:equivalentTo |
Short bowel syndrome with colon-in-continuity |
Short bowel syndrome (SBS) with colon in continuity: colon has been anastomosed to residual small bowel. This includes ileocolonic and jejunocolonic anastomoses SBS with colon in continuity. |
MONDO:0015183 |
| MONDO:0973405 |
chronic catarrhal rhinitis |
icd11.foundation:1964682988 |
MONDO:equivalentTo |
Chronic catarrhal rhinitis |
|
MONDO:0004514 |
| MONDO:0973406 |
disorders of the neuromuscular junction in botulism |
icd11.foundation:1964734963 |
MONDO:equivalentTo |
Disorders of the neuromuscular junction in botulism |
Disorders of neuromuscular junction in botulism are rare diseases caused by exposure to the neurotoxins produced by the anaerobe Clostridium botulinum. The three toxin subtypes A, B and E all act by cleaving a coordinated assembly of proteins, such as syntaxin 1, SNAP 25 and synaptobrevin, that bring the vesicle and the plasma membranes into close apposition, in preparation for exocytosis. Their action prevents the close apposition of vesicles to the presynaptic membrane, leading to a failure of acetylcholine release. |
MONDO:0005498 |
| MONDO:0973407 |
allergic occupational asthma |
icd11.foundation:1964795960 |
MONDO:equivalentTo |
Allergic occupational asthma |
|
MONDO:0004784 |
| MONDO:0973408 |
undescended testicle, unspecified laterality, intra-abdominal |
icd11.foundation:1965075859 |
MONDO:equivalentTo |
Undescended testicle, unspecified laterality, intra-abdominal |
|
MONDO:0009047 |
| MONDO:0973409 |
subacute endometritis |
icd11.foundation:1965229469 |
MONDO:equivalentTo |
Subacute endometritis |
|
MONDO:0004265 |
| MONDO:0973410 |
leydig cell carcinoma, unspecified site, female |
icd11.foundation:1965505025 |
MONDO:equivalentTo |
Leydig cell carcinoma, unspecified site, female |
|
MONDO:0008170 |
| MONDO:0973411 |
bacterial posterior uveitis |
icd11.foundation:1965703348 |
MONDO:equivalentTo |
Bacterial Posterior uveitis |
|
MONDO:0017209 |
| MONDO:0973412 |
acute exacerbation of chronic pancreatitis |
icd11.foundation:1965759338 |
MONDO:equivalentTo |
Acute exacerbation of chronic pancreatitis |
|
MONDO:0006515 |
| MONDO:0973413 |
multicystic encephalomalacia |
icd11.foundation:1965797563 |
MONDO:equivalentTo |
Multicystic encephalomalacia |
|
MONDO:0006741 |
| MONDO:0973414 |
acute bulbar polioencephalitis |
icd11.foundation:1965995711 |
MONDO:equivalentTo |
Acute bulbar polioencephalitis |
|
MONDO:0017373 |
| MONDO:0973415 |
ruptured ovarian corpus luteum cyst |
icd11.foundation:1966265562 |
MONDO:equivalentTo |
Ruptured ovarian corpus luteum cyst |
|
MONDO:0001625 |
| MONDO:0973416 |
ventricular tachycardia and fibrillation cardiac arrest |
icd11.foundation:1966487547 |
MONDO:equivalentTo |
Ventricular tachycardia and fibrillation cardiac arrest |
Discoordinated or rapid ventricular depolarization resulting in hemodynamic collapse. |
MONDO:0000745 |
| MONDO:0973417 |
chronic obstructive rhinitis |
icd11.foundation:196671753 |
MONDO:equivalentTo |
Chronic obstructive rhinitis |
|
MONDO:0004514 |
| MONDO:0973418 |
genitourinary myiasis |
icd11.foundation:1967002224 |
MONDO:equivalentTo |
Genitourinary myiasis |
|
MONDO:0019147 |
| MONDO:0973419 |
unspecified frostbite of abdominal wall |
icd11.foundation:1967122046 |
MONDO:equivalentTo |
Unspecified frostbite of abdominal wall |
|
MONDO:0800177 |
| MONDO:0973420 |
ovarian varices |
icd11.foundation:1967434029 |
MONDO:equivalentTo |
Ovarian varices |
|
MONDO:0004869 |
| MONDO:0973421 |
postmenopausal osteoporosis, pelvic region or thigh |
icd11.foundation:1967830382 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, pelvic region or thigh |
|
MONDO:0008159 |
| MONDO:0973422 |
episodic paroxysmal hemicrania |
icd11.foundation:196801611 |
MONDO:equivalentTo |
Episodic paroxysmal hemicrania |
Attacks of paroxysmal hemicrania occurring in periods lasting from seven days to one year, separated by pain-free periods lasting at least one month. |
MONDO:0015529 |
| MONDO:0973423 |
secondary systemic atrophies primarily affecting the central nervous system |
icd11.foundation:196816367 |
MONDO:equivalentTo |
Secondary systemic atrophies primarily affecting the central nervous system |
|
MONDO:0007803 |
| MONDO:0973424 |
acute alcoholic hepatitis |
icd11.foundation:1969902843 |
MONDO:equivalentTo |
Acute alcoholic hepatitis |
|
MONDO:0001505 |
| MONDO:0973425 |
zellweger spectrum disorder, unclassified clinical severity |
icd11.foundation:197054153 |
MONDO:equivalentTo |
Zellweger spectrum disorder, unclassified clinical severity |
This is a rare congenital disorder, characterised by the reduction or absence of functional peroxisomes in the cells of an individual. This diagnosis is with unclassified clinical severity. |
MONDO:0019234 |
| MONDO:0973426 |
proximal deletions of the long arm of chromosome 16 |
icd11.foundation:1970991378 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 16 |
|
MONDO:0016914 |
| MONDO:0973427 |
chronic simple marginal gingivitis |
icd11.foundation:1971023736 |
MONDO:equivalentTo |
Chronic simple marginal gingivitis |
|
MONDO:0020782 |
| MONDO:0973428 |
hot water epilepsy |
icd11.foundation:197153111 |
MONDO:equivalentTo |
Hot water epilepsy |
The epilepsy is most common in Southern India, occurs more often in boys, with onset in childhood. Seizures are usually focal with dyscognitive features. Non-reflex seizures are common. The EEG is usually normal. |
MONDO:0017768 |
| MONDO:0973429 |
pulmonary hypertension with multifactorial mechanism |
icd11.foundation:1971950106 |
MONDO:equivalentTo |
Pulmonary hypertension with multifactorial mechanism |
#DRAFT# This is an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, together known as the lung vasculature, leading to shortness of breath, dizziness, fainting, and other symptoms, all of which are exacerbated by exertion, with unclear and/or multifactorial mechanism. |
MONDO:0005149 |
| MONDO:0973430 |
cholera due to vibrio cholerae o139 |
icd11.foundation:1972085775 |
MONDO:equivalentTo |
Cholera due to Vibrio cholerae O139 |
|
MONDO:0015766 |
| MONDO:0973431 |
hypertension due to drug therapy |
icd11.foundation:1972500906 |
MONDO:equivalentTo |
Hypertension due to drug therapy |
|
MONDO:0001200 |
| MONDO:0973432 |
disorders of magnesium metabolism |
icd11.foundation:1972596733 |
MONDO:equivalentTo |
Disorders of magnesium metabolism |
Any condition caused by failure to correctly metabolize magnesium. |
MONDO:0017761 |
| MONDO:0973433 |
isolated diastolic secondary hypertension |
icd11.foundation:1975822334 |
MONDO:equivalentTo |
Isolated diastolic secondary hypertension |
|
MONDO:0001200 |
| MONDO:0973434 |
stress gastritis |
icd11.foundation:1975963579 |
MONDO:equivalentTo |
Stress gastritis |
|
MONDO:0004966 |
| MONDO:0973435 |
lymphoepithelial carcinoma of oropharynx |
icd11.foundation:1976738325 |
MONDO:equivalentTo |
Lymphoepithelial carcinoma of oropharynx |
|
MONDO:0044704 |
| MONDO:0973436 |
short rib-polydactyly syndrome, saldino-noonan type |
icd11.foundation:197703396 |
MONDO:equivalentTo |
Short rib-polydactyly syndrome, Saldino-Noonan type |
|
MONDO:0015461 |
| MONDO:0973437 |
mycobacterial myositis |
icd11.foundation:197862435 |
MONDO:equivalentTo |
Mycobacterial myositis |
Mycobacterial infection of muscle is classically seen as an abscess within the iliopsoas muscle compartment secondary to tuberculosis of the spine. Iliopsoas abscess may also be due to non-tuberculous mycobacteria, especially in the context of HIV infection. Symptoms are often non-specific but include pain, fever and weight loss. |
MONDO:0023483 |
| MONDO:0973438 |
short bowel syndrome with no colon-in-continuity |
icd11.foundation:1978706475 |
MONDO:equivalentTo |
Short bowel syndrome with no colon-in-continuity |
Short bowel syndrome (SBS) with no colon in continuity: All colon has been resected, or otherwise is not in continuity with the residual small bowel. This includes mucus fistula, ileostomy, jejunostomy, duodenostomy patients and jejuno/ileo-rectal anastomosis that meet the definition for SBS. |
MONDO:0015183 |
| MONDO:0973439 |
mitochondrial isocitrate dehydrogenase deficiency |
icd11.foundation:1978806892 |
MONDO:equivalentTo |
Mitochondrial isocitrate dehydrogenase deficiency |
|
MONDO:0010924 |
| MONDO:0973440 |
desmoplastic nodular medulloblastoma |
icd11.foundation:1978855815 |
MONDO:equivalentTo |
Desmoplastic nodular medulloblastoma |
Desmoplastic nodular medulloblastoma is a histological variant of medulloblastoma (an embryonic malignancy), often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache. |
MONDO:0007959 |
| MONDO:0973441 |
myasthenia gravis, seronegative |
icd11.foundation:1979177138 |
MONDO:equivalentTo |
Myasthenia gravis, seronegative |
In approximately 50% of the Acetylcholine receptor-seronegative patients with generalised Myasthenia Gravis (MG), no autoantibodies against Muscle-specific kinase (MuSK) or against AChRs could be detected by routine methods. In this group autoantibodies against the low-density lipoprotein receptor-related protein 4 (LRP4) have been identified in several dSN-MG sera with a frequency variation (7-32%). There are also double positive patients (with LRP4 and AChR or MuSK). Anti-agrin antibodies were detected in combination with autoantibodies against MuSK, LRP4, or AChRs in 10-15% of the generalised MG patients. |
MONDO:0009688 |
| MONDO:0973442 |
primary hyperaldosteronism |
icd11.foundation:197924221 |
MONDO:equivalentTo |
Primary hyperaldosteronism |
|
MONDO:0003009 |
| MONDO:0973443 |
peritonsillar cellulitis |
icd11.foundation:1979405442 |
MONDO:equivalentTo |
Peritonsillar cellulitis |
|
MONDO:0005906 |
| MONDO:0973444 |
deletions of chromosome 8 |
icd11.foundation:1979614446 |
MONDO:equivalentTo |
Deletions of chromosome 8 |
|
MONDO:0020054 |
| MONDO:0973445 |
crohn disease of appendix |
icd11.foundation:1979896624 |
MONDO:equivalentTo |
Crohn disease of appendix |
Crohn disease, which is characterised by chronic and relapsing transmural inflammation, may affect any part of the digestive tract. This refers to Crohn disease involving the appendix. |
MONDO:0005011 |
| MONDO:0973446 |
ehlers-danlos syndrome, rare variants |
icd11.foundation:1980311354 |
MONDO:equivalentTo |
Ehlers-Danlos syndrome, rare variants |
|
MONDO:0020066 |
| MONDO:0973447 |
ocular sarcoidosis |
icd11.foundation:1980319000 |
MONDO:equivalentTo |
Ocular sarcoidosis |
This is a syndrome involving abnormal collections of chronic inflammatory cells (granulomas) that can form as nodules in multiple organs. |
MONDO:0019338 |
| MONDO:0973448 |
venous thromboembolism originating from other or unspecified sites |
icd11.foundation:1981143492 |
MONDO:equivalentTo |
Venous thromboembolism originating from other or unspecified sites |
|
MONDO:0005399 |
| MONDO:0973449 |
localised porokeratosis |
icd11.foundation:1981283512 |
MONDO:equivalentTo |
Localised porokeratosis |
Porokeratosis confined to a localised area of the skin surface. It presents as single or multiple papules or plaques which may coalesce into giant verrucous forms. |
MONDO:0006602 |
| MONDO:0973450 |
acute congestive heart failure |
icd11.foundation:1981559937 |
MONDO:equivalentTo |
Acute congestive heart failure |
|
MONDO:0005009 |
| MONDO:0973451 |
histoplasmosis-related fibrosing mediastinitis |
icd11.foundation:1981682639 |
MONDO:equivalentTo |
Histoplasmosis-related fibrosing mediastinitis |
The most severe late complication of pulmonary histoplasmosis. It is characterised by an inflammatory fibrotic process affecting the connective tissue of the mediastinum. It may cause constriction or occlusion of major vessels or airways and can lead to infarction of the lung. |
MONDO:0018312 |
| MONDO:0973452 |
perforated duodenal ulcer |
icd11.foundation:1982276025 |
MONDO:equivalentTo |
Perforated duodenal ulcer |
|
MONDO:0005412 |
| MONDO:0973453 |
spondylolysis, thoracolumbar region |
icd11.foundation:1982376843 |
MONDO:equivalentTo |
Spondylolysis, thoracolumbar region |
|
MONDO:0005541 |
| MONDO:0973454 |
common hereditary elliptocytosis |
icd11.foundation:1982613765 |
MONDO:equivalentTo |
Common hereditary elliptocytosis |
|
MONDO:0017319 |
| MONDO:0973455 |
congenital dilatation of oesophagus |
icd11.foundation:1982790461 |
MONDO:equivalentTo |
Congenital dilatation of oesophagus |
This is a congenital abnormal enlargement of the lower portion of the oesophagus, as seen in patients with achalasia. |
MONDO:0019513 |
| MONDO:0973456 |
defective arachnoid villi |
icd11.foundation:1982830882 |
MONDO:equivalentTo |
Defective arachnoid villi |
This type of communicating hydrocephalus seen in infants is named Benign External Hydrocephalus. The cause is unclear, but CSF flow studies suggest a disturbance in absorption. This condition usually corrects itself without surgery by 18 months of age. |
MONDO:0002045 |
| MONDO:0973457 |
marfan syndrome type 2 |
icd11.foundation:1982850796 |
MONDO:equivalentTo |
Marfan syndrome type 2 |
|
MONDO:0007947 |
| MONDO:0973458 |
pelizaeus-merzbacher-like due to gjc2 mutation |
icd11.foundation:1983099839 |
MONDO:equivalentTo |
Pelizaeus-Merzbacher-like due to GJC2 mutation |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; ). This type is due to a mutation in the GJC2 gene. |
MONDO:0017226 |
| MONDO:0973459 |
atypical truncal valve |
icd11.foundation:1983503623 |
MONDO:equivalentTo |
Atypical truncal valve |
A congenital cardiovascular malformation in which the truncal valve does not have the usual morphological or functional attributes at birth. |
MONDO:0018072 |
| MONDO:0973460 |
albinism-deafness syndrome |
icd11.foundation:1983697023 |
MONDO:equivalentTo |
Albinism-deafness syndrome |
Albinism-deafness syndrome is an X-linked genetic deafness syndrome characterised by congenital profound sensorineural deafness and piebaldness with no ocular albinism. |
MONDO:0019589 |
| MONDO:0973461 |
orthostatic proteinuria, intermittent |
icd11.foundation:1983822651 |
MONDO:equivalentTo |
Orthostatic proteinuria, intermittent |
A condition characterised by an elevated protein excretion at irregular intervals while in the upright position and normal protein excretion in a supine or recumbent position. |
MONDO:0004838 |
| MONDO:0973462 |
papillary cystadenoma, borderline malignancy of ovary |
icd11.foundation:1984351818 |
MONDO:equivalentTo |
Papillary cystadenoma, borderline malignancy of ovary |
|
MONDO:0008170 |
| MONDO:0973463 |
achondrogenesis type 1a |
icd11.foundation:1984401402 |
MONDO:equivalentTo |
Achondrogenesis type 1A |
Achondrogenesis type 1A, a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterised by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage. |
MONDO:0019648 |
| MONDO:0973464 |
pyoderma gangrenosum classified by aetiological associations |
icd11.foundation:1984759911 |
MONDO:equivalentTo |
Pyoderma gangrenosum classified by aetiological associations |
Pyoderma gangrenosum classified according to the presence or absence of associated antecedent or coincident recognised predisposing condition. |
MONDO:0018824 |
| MONDO:0973465 |
mild nemaline myopathy |
icd11.foundation:1984793391 |
MONDO:equivalentTo |
Mild nemaline myopathy |
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterised by distal muscle weakness, and sometimes slowness of muscle contraction. |
MONDO:0018958 |
| MONDO:0973466 |
retinopathy of prematurity, stage 1 |
icd11.foundation:1984805551 |
MONDO:equivalentTo |
Retinopathy of prematurity, Stage 1 |
Stage 1: Demarcation Line: This line is thin and flat (in the retina plane) and separates the avascular retina anteriorly from the vascularized retina posteriorly. |
MONDO:0006952 |
| MONDO:0973467 |
food-independent exercise-induced anaphylaxis |
icd11.foundation:1985320989 |
MONDO:equivalentTo |
Food-independent exercise-induced anaphylaxis |
Exercise-dependent exercise-induced anaphylaxis which is not known to be associated with IgE-mediated allergy to food |
MONDO:0100056 |
| MONDO:0973468 |
mitral atresia with absent atrioventricular connection |
icd11.foundation:198563998 |
MONDO:equivalentTo |
Mitral atresia with absent atrioventricular connection |
A congenital cardiovascular malformation with absence of the mitral valve and its associated annulus (connection or junction). |
MONDO:0015249 |
| MONDO:0973469 |
muckle wells syndrome with neurosensorial hearing loss |
icd11.foundation:1986226456 |
MONDO:equivalentTo |
Muckle Wells Syndrome with neurosensorial hearing loss |
|
MONDO:0008633 |
| MONDO:0973470 |
autoimmune encephalitis, neural autoantibody negative |
icd11.foundation:1986232955 |
MONDO:equivalentTo |
Autoimmune encephalitis, neural autoantibody negative |
Autoimmune encephalitis seronegative for neural autoantibodies. |
MONDO:0020640 |
| MONDO:0973471 |
acute gangrenous tonsillitis |
icd11.foundation:1986254320 |
MONDO:equivalentTo |
Acute gangrenous tonsillitis |
|
MONDO:0020686 |
| MONDO:0973472 |
calculus of gallbladder or cystic duct without cholecystitis or cholangitis |
icd11.foundation:1986853646 |
MONDO:equivalentTo |
Calculus of gallbladder or cystic duct without cholecystitis or cholangitis |
Stones in gallbladder present without inflammation of the gall bladder wall and bile duct. |
MONDO:0012672 |
| MONDO:0973473 |
lymphoplasmacytic lymphoma in complete remission |
icd11.foundation:1986910275 |
MONDO:equivalentTo |
Lymphoplasmacytic lymphoma in complete remission |
|
MONDO:0000432 |
| MONDO:0973474 |
adjustment reaction with destructiveness |
icd11.foundation:1988447309 |
MONDO:equivalentTo |
Adjustment reaction with destructiveness |
|
MONDO:0003265 |
| MONDO:0973475 |
chronic infectious pancreatitis |
icd11.foundation:1988630713 |
MONDO:equivalentTo |
Chronic infectious pancreatitis |
This is a chronic inflammation of the pancreas which requires immediate medical attention and hospitalization during an attack that has multiple causes and symptoms. |
MONDO:0005003 |
| MONDO:0973476 |
gonococcal bursitis, neck |
icd11.foundation:1989598922 |
MONDO:equivalentTo |
Gonococcal bursitis, neck |
|
MONDO:0001719 |
| MONDO:0973477 |
atypical marburg disease |
icd11.foundation:198979491 |
MONDO:equivalentTo |
Atypical Marburg disease |
|
MONDO:0020500 |
| MONDO:0973478 |
paving stone degeneration of retina |
icd11.foundation:1990039815 |
MONDO:equivalentTo |
Paving stone degeneration of retina |
|
MONDO:0001451 |
| MONDO:0973479 |
benign neoplasm of hypopharyngeal aspect of interarytenoid fold |
icd11.foundation:1990071223 |
MONDO:equivalentTo |
Benign neoplasm of hypopharyngeal aspect of interarytenoid fold |
|
MONDO:0021461 |
| MONDO:0973480 |
monocular exotropia with v pattern |
icd11.foundation:1990330451 |
MONDO:equivalentTo |
Monocular exotropia with V pattern |
Monocular exotropia with a V pattern is an abnormal binocular alignment in which one of the eyes has an outward deviation. The additional descriptive feature of the presence of a V pattern is specified in which the eyes are more deviated in upgaze and less deviated in downgaze. |
MONDO:0001286 |
| MONDO:0973481 |
inferior polioencephalitis |
icd11.foundation:1990354989 |
MONDO:equivalentTo |
Inferior polioencephalitis |
|
MONDO:0020128 |
| MONDO:0973482 |
alpha thalassaemia myelodysplastic syndrome |
icd11.foundation:1991581630 |
MONDO:equivalentTo |
Alpha thalassaemia myelodysplastic syndrome |
Alpha-thalassemia is a form of thalassemia involving the genes HBA1 and HBA2. Alpha-thalassemia is due to impaired production of 1,2,3, or 4 alpha globin chains, leading to a relative excess of beta globin chains. Myelodysplastic syndrome is a diverse collection of haematological (blood-related) medical conditions that involve ineffective production (or dysplasia) of the myeloid class of blood cells. |
MONDO:0011399 |
| MONDO:0973483 |
pseudohypoparathyroidism without albright hereditary osteodystrophy |
icd11.foundation:1991721563 |
MONDO:equivalentTo |
Pseudohypoparathyroidism without Albright hereditary osteodystrophy |
|
MONDO:0019992 |
| MONDO:0973484 |
biventricular failure |
icd11.foundation:1992125824 |
MONDO:equivalentTo |
Biventricular failure |
|
MONDO:0005252 |
| MONDO:0973485 |
inherited disorders of folate metabolism |
icd11.foundation:1992523558 |
MONDO:equivalentTo |
Inherited disorders of folate metabolism |
|
MONDO:0017313 |
| MONDO:0973486 |
chronic appendicitis |
icd11.foundation:1992638304 |
MONDO:equivalentTo |
Chronic appendicitis |
A correctly diagnosed non-acute form of appendicitis. Chronic appendicitis is a disorder caused by inflammation of the appendix over a period of time. While acute appendicitis shows the typical manifestation of an inflamed appendix, chronic appendicitis may cause symptoms related to abdominal discomfort or more generalised symptoms. In this category chronic appendicitis only due to common bacterial infection is included, and appendicitis due to specific organisms is ruled out from here, and described elsewhere. |
MONDO:0005649 |
| MONDO:0973487 |
atrophic laryngitis |
icd11.foundation:199296218 |
MONDO:equivalentTo |
Atrophic laryngitis |
|
MONDO:0001369 |
| MONDO:0973488 |
streptococcal endocarditis |
icd11.foundation:1993702070 |
MONDO:equivalentTo |
Streptococcal endocarditis |
|
MONDO:0006669 |
| MONDO:0973489 |
myotubular myopathy |
icd11.foundation:1993913190 |
MONDO:equivalentTo |
Myotubular myopathy |
|
MONDO:0018947 |
| MONDO:0973490 |
juvenile myositis |
icd11.foundation:1993984811 |
MONDO:equivalentTo |
Juvenile myositis |
|
MONDO:0008054 |
| MONDO:0973491 |
obsessive-compulsive disorder with poor to absent insight |
icd11.foundation:1994177297 |
MONDO:equivalentTo |
Obsessive-compulsive disorder with poor to absent insight |
All definitional requirements of obsessive-compulsive disorder are met. Most or all of the time, the individual is convinced that the disorder-specific beliefs are true and cannot accept an alternative explanation for their experience. The lack of insight exhibited by the individual does not vary markedly as a function of anxiety level. |
MONDO:0008114 |
| MONDO:0973492 |
benign neoplasm of cardia of stomach |
icd11.foundation:1994459931 |
MONDO:equivalentTo |
Benign neoplasm of cardia of stomach |
|
MONDO:0021449 |
| MONDO:0973493 |
traumatic central diabetes insipidus |
icd11.foundation:1994772612 |
MONDO:equivalentTo |
Traumatic central diabetes insipidus |
This is a traumatic central condition characterised by excessive thirst and excretion of large amounts of severely diluted urine, with reduction of fluid intake having no effect on the concentration of the urine. |
MONDO:0019846 |
| MONDO:0973494 |
familial hyperaldosteronism type 1 |
icd11.foundation:1994802431 |
MONDO:equivalentTo |
Familial hyperaldosteronism type 1 |
Type I familial aldosteronism, also called dexamethasone suppressible aldosteronism, is a rare inherited disorder due to the ectopic expression of the aldosterone synthase in the fascicular zone of the adrenal gland and marked with early severe hypertension (often occurring before the age of 20), biological signs of primary aldosteronism of variable intensity, and an abnormal elevated level of 18-oxo- and 18-hydroxycortisol. |
MONDO:0016525 |
| MONDO:0973495 |
adult-onset still disease, shoulder region |
icd11.foundation:1995550381 |
MONDO:equivalentTo |
Adult-onset Still disease, shoulder region |
|
MONDO:0019355 |
| MONDO:0973496 |
hidradenitis suppurativa of axillae |
icd11.foundation:1995929629 |
MONDO:equivalentTo |
Hidradenitis suppurativa of axillae |
Hidradenitis suppurativa affecting the skin of the axillary vault. This is a classical site of involvement. It is also more amenable to surgical treatment than other areas such as the anogenital region. |
MONDO:0006559 |
| MONDO:0973497 |
fibrosis of spleen in schistosomiasis |
icd11.foundation:19959433 |
MONDO:equivalentTo |
Fibrosis of spleen in schistosomiasis |
|
MONDO:0015254 |
| MONDO:0973498 |
sunburn erythema |
icd11.foundation:1996095396 |
MONDO:equivalentTo |
Sunburn erythema |
|
MONDO:0005326 |
| MONDO:0973499 |
hepatic manifestations of unspecified cystic fibrosis |
icd11.foundation:1996183237 |
MONDO:equivalentTo |
Hepatic manifestations of unspecified cystic fibrosis |
|
MONDO:0009061 |
| MONDO:0973500 |
gangliocytoma of brain |
icd11.foundation:1996187773 |
MONDO:equivalentTo |
Gangliocytoma of brain |
|
MONDO:0016729 |
| MONDO:0973501 |
tuberculosis of nasal sinus |
icd11.foundation:1996995240 |
MONDO:equivalentTo |
Tuberculosis of nasal sinus |
|
MONDO:0957462 |
| MONDO:0973502 |
cyst of craniopharyngeal pouch |
icd11.foundation:1997848797 |
MONDO:equivalentTo |
Cyst of craniopharyngeal pouch |
|
MONDO:0015127 |
| MONDO:0973503 |
ribose-5-phosphate isomerase deficiency |
icd11.foundation:1998134467 |
MONDO:equivalentTo |
Ribose-5-phosphate isomerase deficiency |
This refers to a deficiency enzyme that catalyzes the conversion between ribose-5-phosphate (R5P) and ribulose-5-phosphate (Ru5P). |
MONDO:0019231 |
| MONDO:0973504 |
immunodeficiency with factor d anomaly |
icd11.foundation:1998425794 |
MONDO:equivalentTo |
Immunodeficiency with factor D anomaly |
Factor D deficiency is an autosomal recessive immunologic disorder characterised by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. |
MONDO:0015136 |
| MONDO:0973505 |
idiopathic aseptic osteonecrosis, multiple sites |
icd11.foundation:1998483765 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, multiple sites |
|
MONDO:0018380 |
| MONDO:0973506 |
dihydropyrimidinase deficiency |
icd11.foundation:1998720114 |
MONDO:equivalentTo |
Dihydropyrimidinase deficiency |
This refers to deficiency in the enzyme that belongs to the family of hydrolases, those acting on carbon-nitrogen bonds other than peptide bonds, specifically in cyclic amides. |
MONDO:0019238 |
| MONDO:0973507 |
methylcobalamin deficiency type cbl dv1 |
icd11.foundation:1998727677 |
MONDO:equivalentTo |
Methylcobalamin deficiency type cbl Dv1 |
|
MONDO:0018964 |
| MONDO:0973508 |
long qt syndrome type 6 |
icd11.foundation:1998894476 |
MONDO:equivalentTo |
Long QT syndrome type 6 |
This is an autosomal dominant relatively uncommon form of LQTS. It involves mutations in the gene KCNE2, which encodes for the potassium channel beta subunit MiRP1, constituting part of the IKr repolarizing K+ current. |
MONDO:0019171 |
| MONDO:0973509 |
proximal duplications of the short arm of chromosome 9 |
icd11.foundation:1999632317 |
MONDO:equivalentTo |
Proximal duplications of the short arm of chromosome 9 |
|
MONDO:0016526 |
| MONDO:0973510 |
thoracic aortic aneurysm without mention of perforation or rupture |
icd11.foundation:1999731865 |
MONDO:equivalentTo |
Thoracic aortic aneurysm without mention of perforation or rupture |
|
MONDO:0005396 |
| MONDO:0973511 |
tuberculosis of larynx, trachea or bronchus, without mention of bacteriological or histological confirmation |
icd11.foundation:2000236142 |
MONDO:equivalentTo |
Tuberculosis of larynx, trachea or bronchus, without mention of bacteriological or histological confirmation |
This is a common, and in many cases lethal, infectious disease of larynx caused by various strains of mycobacteria, usually Mycobacterium tuberculosis. This diagnosis is without mention of bacteriological or histological confirmation. |
MONDO:0957462 |
| MONDO:0973512 |
preproliferative diabetic retinopathy |
icd11.foundation:2000323953 |
MONDO:equivalentTo |
Preproliferative diabetic retinopathy |
|
MONDO:0004687 |
| MONDO:0973513 |
classical phenylketonuria, phenylalanine hydroxylase partial deficiency |
icd11.foundation:2000382057 |
MONDO:equivalentTo |
Classical phenylketonuria, phenylalanine hydroxylase partial deficiency |
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterised by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional, with phenylalanine hydroxylase partial deficiency. |
MONDO:0019259 |
| MONDO:0973514 |
electron transfer flavoprotein deficiency, beta chain |
icd11.foundation:2000764873 |
MONDO:equivalentTo |
Electron transfer flavoprotein deficiency, beta chain |
This refers to deficiency in a flavoprotein and functions as a specific electron acceptor for primary dehydrogenases, transferring the electrons to terminal respiratory systems such as electron-transferring-flavoprotein dehydrogenase, beta chain. |
MONDO:0009282 |
| MONDO:0973515 |
vesicoureteral regurgitation |
icd11.foundation:2001872523 |
MONDO:equivalentTo |
Vesicoureteral regurgitation |
|
MONDO:0006007 |
| MONDO:0973516 |
other spontaneous pneumothorax |
icd11.foundation:2003193382 |
MONDO:equivalentTo |
Other spontaneous pneumothorax |
Spontaneous pneumothorax that is not tension pneumothorax is included in this classification. |
MONDO:0002076 |
|
|
|
|
|
|
|
|
|
|
|
|
They include primary spontaneous pneumothorax without tension and secondary spontaneous pneumothorax without tension. Primary spontaneous pneumothorax occurs in patients without underlying pulmonary disease, classically in tall, thin young men in their teens and 20s. It is thought to be due to spontaneous rupture of subpleural apical blebs or bullae that result from smoking or that are inherited. It generally occurs at rest, although some cases occur during activities involving reaching or stretching. Primary spontaneous pneumothorax also occurs during diving and high-altitude flying because of unequally transmitted pressure changes in the lung. Secondary spontaneous pneumothorax occurs in patients with underlying pulmonary disease. It most often results from rupture of a bleb or bulla in patients with severe COPD, HIV-related Pneumocystis jirovecii infection, cystic fibrosis, or any underlying pulmonary parenchymal disease. Secondary spontaneous pneumothorax is more serious than primary spontaneous pneumothorax because it occurs in patients whose underlying lung disease decreases their pulmonary reserve. |
|
| MONDO:0973517 |
tetanus omphalitis |
icd11.foundation:2003197433 |
MONDO:equivalentTo |
Tetanus omphalitis |
|
MONDO:0001737 |
| MONDO:0973518 |
myasthenia gravis, other antibodies positive |
icd11.foundation:2004419909 |
MONDO:equivalentTo |
Myasthenia gravis, other antibodies positive |
Late-onset generalised Myasthenia Gravis (MG), either male or female, is associated with atrophic thymuses. Most late-onset (>50 years) patients, either male or female, are AChR positive and in addition often have anti-striational antibodies including anti-titin, ryanodine receptor (RyR), and Kv1.4 antibodies. These antibodies are associated with a severe form of MG and are more frequently found in thymoma-associated MG. |
MONDO:0009688 |
| MONDO:0973519 |
bartsocas-papas syndrome |
icd11.foundation:2004528416 |
MONDO:equivalentTo |
Bartsocas-Papas syndrome |
|
MONDO:0017435 |
| MONDO:0973520 |
caries of petrous bone |
icd11.foundation:2004688527 |
MONDO:equivalentTo |
Caries of petrous bone |
|
MONDO:0001109 |
| MONDO:0973521 |
osteoarthritis of hip |
icd11.foundation:20048211 |
MONDO:equivalentTo |
Osteoarthritis of hip |
|
MONDO:0005178 |
| MONDO:0973522 |
deafness - hypogonadism |
icd11.foundation:2005411098 |
MONDO:equivalentTo |
Deafness - hypogonadism |
Deafness - hypogonadism syndrome is characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour. |
MONDO:0019589 |
| MONDO:0973523 |
punctate keratoderma of the palmar creases |
icd11.foundation:2006118762 |
MONDO:equivalentTo |
Punctate keratoderma of the palmar creases |
A common asymptomatic autosomal dominant condition affecting the palms principally of people of African descent. It is characterised by punctate keratotic plugs and pits, generally no more than 1-2 mm in diameter, confined to the creases of the palms and the palmar surfaces of the fingers. The keratotic plugs have been shown to occur directly above the acrosyringium of eccrine sweat ducts. Pits develop when the keratin plugs detach. |
MONDO:0017675 |
| MONDO:0973524 |
hyperprolinaemia type 1 |
icd11.foundation:2006510589 |
MONDO:equivalentTo |
Hyperprolinaemia type 1 |
Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2). |
MONDO:0017355 |
| MONDO:0973525 |
chagas disease with digestive system involvement |
icd11.foundation:200715565 |
MONDO:equivalentTo |
Chagas disease with digestive system involvement |
A disease caused by an infection with the protozoan parasite Trypanosoma cruzi. This disease is characterised by severe malaise or digestive system involvement (such as megaoesophagus or megacolon). Transmission is by direct contact with faeces from an infected triatomine bug, vertical transmission, iatrogenic transmission, or ingestion of contaminated food or water. Confirmation is by identification of Trypanosoma cruzi in a blood sample. |
MONDO:0001444 |
| MONDO:0973526 |
preaxial deficiency - postaxial polydactyly - hypospadias |
icd11.foundation:2007432445 |
MONDO:equivalentTo |
Preaxial deficiency - postaxial polydactyly - hypospadias |
Guttmacher syndrome is an extremely rare syndrome characterised by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
MONDO:0017434 |
| MONDO:0973527 |
cold haemagglutinin disease |
icd11.foundation:2008034337 |
MONDO:equivalentTo |
Cold haemagglutinin disease |
Cold agglutinin disease is a type of autoimmune haemolytic anaemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30C) that manifests as acute or chronic haemolytic anaemia. |
MONDO:0016450 |
| MONDO:0973528 |
brucellosis due to brucella suis |
icd11.foundation:2008288450 |
MONDO:equivalentTo |
Brucellosis due to Brucella suis |
B. suis is associated with swine. B. suis has a much more restricted occurrence than B. melitensis and B. abortus. It is locally important as a source of human infection which can be as severe as that produced by B. melitensis. |
MONDO:0005683 |
| MONDO:0973529 |
acquired cholesteatoma of middle ear |
icd11.foundation:200843960 |
MONDO:equivalentTo |
Acquired cholesteatoma of middle ear |
|
MONDO:0006533 |
| MONDO:0973530 |
leigh syndrome with nephrotic syndrome |
icd11.foundation:2009034372 |
MONDO:equivalentTo |
Leigh syndrome with nephrotic syndrome |
This refers to a rare neurometabolic disorder that affects the central nervous system. This diagnosis is with a nonspecific kidney disorder characterised by a number of diseases: proteinuria, hypoalbuminemia and oedema. |
MONDO:0009723 |
| MONDO:0973531 |
persistent tunica vasculosa lentis |
icd11.foundation:2010183835 |
MONDO:equivalentTo |
Persistent tunica vasculosa lentis |
|
MONDO:0020355 |
| MONDO:0973532 |
tuberculosis of omentum |
icd11.foundation:2010448518 |
MONDO:equivalentTo |
Tuberculosis of omentum |
|
MONDO:0957466 |
| MONDO:0973533 |
hyperthymic personality disorder |
icd11.foundation:2010914592 |
MONDO:equivalentTo |
Hyperthymic personality disorder |
|
MONDO:0004572 |
| MONDO:0973534 |
adult-onset still disease, vertebral column |
icd11.foundation:2011239788 |
MONDO:equivalentTo |
Adult-onset Still disease, vertebral column |
|
MONDO:0019355 |
| MONDO:0973535 |
decompensated congestive cardiac failure |
icd11.foundation:2011334376 |
MONDO:equivalentTo |
Decompensated congestive cardiac failure |
|
MONDO:0005009 |
| MONDO:0973536 |
beukes familial hip dysplasia |
icd11.foundation:2011419868 |
MONDO:equivalentTo |
Beukes familial hip dysplasia |
Beukes familial hip dysplasia (BFHD) is an inherited skeletal disorder characterised by premature degenerative osteoarthropathy of the hip joint. |
MONDO:0019692 |
| MONDO:0973537 |
familial hemiplegic migraine 2 |
icd11.foundation:2011725312 |
MONDO:equivalentTo |
Familial hemiplegic migraine 2 |
|
MONDO:0000700 |
| MONDO:0973538 |
undifferentiated carcinoma of oropharynx |
icd11.foundation:2012753502 |
MONDO:equivalentTo |
Undifferentiated carcinoma of oropharynx |
|
MONDO:0044704 |
| MONDO:0973539 |
benign adenoma of prostate |
icd11.foundation:2013434061 |
MONDO:equivalentTo |
Benign adenoma of prostate |
|
MONDO:0021510 |
| MONDO:0973540 |
acute lingual tonsillitis |
icd11.foundation:2014424158 |
MONDO:equivalentTo |
Acute lingual tonsillitis |
|
MONDO:0020686 |
| MONDO:0973541 |
periodic agranulocytosis |
icd11.foundation:2014544526 |
MONDO:equivalentTo |
Periodic agranulocytosis |
|
MONDO:0001609 |
| MONDO:0973542 |
chagas disease with nervous system involvement |
icd11.foundation:2014854841 |
MONDO:equivalentTo |
Chagas disease with nervous system involvement |
This is a chronic tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi. This diagnosis is with nervous system involvement. |
MONDO:0001444 |
| MONDO:0973543 |
iatrogenic corneal ectasia |
icd11.foundation:2015123570 |
MONDO:equivalentTo |
Iatrogenic corneal ectasia |
|
MONDO:0001950 |
| MONDO:0973544 |
congenital genu varum |
icd11.foundation:2015262746 |
MONDO:equivalentTo |
Congenital genu varum |
|
MONDO:0017429 |
| MONDO:0973545 |
adult idiopathic neutropaenia |
icd11.foundation:2015940146 |
MONDO:equivalentTo |
Adult idiopathic neutropaenia |
|
MONDO:0015822 |
| MONDO:0973546 |
acute myocardial infarction, without specification of st elevation |
icd11.foundation:2016376826 |
MONDO:equivalentTo |
Acute myocardial infarction, without specification of ST elevation |
This is commonly known as a heart attack, results from the interruption of blood supply to a part of the heart, causing heart cells to die. This is most commonly due to occlusion (blockage) of a coronary artery following the rupture of a vulnerable atherosclerotic plaque, which is an unstable collection of lipids (cholesterol and fatty acids) and white blood cells (especially macrophages) in the wall of an artery, ST elevation unspecified. |
MONDO:0004781 |
| MONDO:0973547 |
hereditary sensory and autonomic neuropathy type ii |
icd11.foundation:2016844157 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy type II |
Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an autosomal recessive disorder characterised by profound and universal sensory loss involving large and small fibre nerves, marked hypotonia, painless fractures, trophic changes, tonic pupils, constipation, apnoeic spells. |
MONDO:0015364 |
| MONDO:0973548 |
laryngotracheooesophageal cleft type iv |
icd11.foundation:2016894416 |
MONDO:equivalentTo |
Laryngotracheooesophageal cleft type IV |
Laryngo-tracheo-oesophageal cleft, type 4 is a serious congenital respiratory tract anomaly characterised by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress. |
MONDO:0016060 |
| MONDO:0973549 |
alport syndrome, autosomal recessive |
icd11.foundation:2017308985 |
MONDO:equivalentTo |
Alport syndrome, autosomal recessive |
|
MONDO:0018965 |
| MONDO:0973550 |
parainfectious neuroretinitis |
icd11.foundation:201737568 |
MONDO:equivalentTo |
Parainfectious neuroretinitis |
|
MONDO:0000958 |
| MONDO:0973551 |
immunodeficiency with ficolin-3 deficiency |
icd11.foundation:201749924 |
MONDO:equivalentTo |
Immunodeficiency with ficolin-3 deficiency |
|
MONDO:0015136 |
| MONDO:0973552 |
cysticercosis of eye |
icd11.foundation:2017611304 |
MONDO:equivalentTo |
Cysticercosis of eye |
A disease of the eye, caused by an infection of tissue with larval cysts from the parasitic worm Taenia solium. This disease is characterised by cysts floating in the vitreous humour of the eye leading to impaired vision. Transmission is by haematogenous spread of larvae to the eye after ingestion of Taenia solium eggs in contaminated food or water. Confirmation is commonly by history of travel in parasite endemic regions and advanced imaging of the eye. |
MONDO:0015484 |
| MONDO:0973553 |
xanthomatous hypophysitis |
icd11.foundation:2018168585 |
MONDO:equivalentTo |
Xanthomatous hypophysitis |
|
MONDO:0021156 |
| MONDO:0973554 |
non-syndromic nummular or linear palmoplantar keratodermas |
icd11.foundation:2018231993 |
MONDO:equivalentTo |
Non-syndromic nummular or linear palmoplantar keratodermas |
|
MONDO:0017672 |
| MONDO:0973555 |
osteochondrosis of the proximal epiphysis of the radius |
icd11.foundation:2018867701 |
MONDO:equivalentTo |
Osteochondrosis of the proximal epiphysis of the radius |
|
MONDO:0018381 |
| MONDO:0973556 |
anaphylaxis due to inhaled allergens |
icd11.foundation:2018903019 |
MONDO:equivalentTo |
Anaphylaxis due to inhaled allergens |
Rapid progressive, multisystem life-threatening reaction due to the exposure to a sensitized inhaled allergen, such as particles from rubber gloves or latex products, animal dander and dust mite. |
MONDO:0100053 |
|
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|
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|
|
|
|
|
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|
Use additional external cause code, if desired, to identify agent. |
|
| MONDO:0973557 |
invasive cerebral aspergillosis |
icd11.foundation:2019158769 |
MONDO:equivalentTo |
Invasive cerebral aspergillosis |
|
MONDO:0000240 |
| MONDO:0973558 |
cerebral leukodystrophy |
icd11.foundation:2019381698 |
MONDO:equivalentTo |
Cerebral leukodystrophy |
|
MONDO:0019046 |
| MONDO:0973559 |
chronic chikungunya virus disease |
icd11.foundation:2020347374 |
MONDO:equivalentTo |
Chronic Chikungunya virus disease |
Person with previous clinical diagnosis of chikungunya after 12 weeks of the onset of the symptoms presenting with at least one of the following articular manifestations: pain, rigidity, or oedema, continuously or recurrently. |
MONDO:0017941 |
| MONDO:0973560 |
limb-girdle muscular dystrophy 2h, trim32 gene mutation |
icd11.foundation:2020366790 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2H, TRIM32 gene mutation |
Limb girdle muscular dystrophy (LGMD) 2H belongs to a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD 2H is transmitted as an autosomal recessive form. |
MONDO:0015152 |
| MONDO:0973561 |
hypomyopathic juvenile dermatomyositis |
icd11.foundation:2020758398 |
MONDO:equivalentTo |
Hypomyopathic juvenile dermatomyositis |
Hypomyopathic juvenile dermatomyositis is young-onset subset of dermatomyositis characterised by a lack of subjective symptoms but with subclinical evidence of muscle inflammation on muscle biopsy, electromyography, or other procedures. |
MONDO:0008054 |
| MONDO:0973562 |
spotted fever due to rickettsia australis |
icd11.foundation:2020851679 |
MONDO:equivalentTo |
Spotted fever due to Rickettsia australis |
|
MONDO:0001195 |
| MONDO:0973563 |
holoprosencephaly with cyclopia or synophthalmia |
icd11.foundation:2022329252 |
MONDO:equivalentTo |
Holoprosencephaly with cyclopia or synophthalmia |
|
MONDO:0016296 |
| MONDO:0973564 |
hodgkin sarcoma |
icd11.foundation:2022375194 |
MONDO:equivalentTo |
Hodgkin sarcoma |
|
MONDO:0009348 |
| MONDO:0973565 |
congenital bile acid synthesis defect type 3 |
icd11.foundation:2022512995 |
MONDO:equivalentTo |
Congenital bile acid synthesis defect type 3 |
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterised by severe neonatal cholestatic liver disease. It presents with severe progressive cholestasis, hepatosplenomegaly, coagulopathy, cirrhosis and liver synthetic failure from early infancy. |
MONDO:0015581 |
| MONDO:0973566 |
perimembranous central ventricular septal defect |
icd11.foundation:2023258628 |
MONDO:equivalentTo |
Perimembranous central ventricular septal defect |
A congenital cardiovascular malformation in which there is a ventricular septal defect that 1) occupies the space that is usually closed by the interventricular part of the membranous septum, 2) is usually adjacent to the area of fibrous continuity between the leaflets of an atrioventricular valve and an arterial valve, 3) is adjacent to an area of mitral-tricuspid fibrous continuity, and 4) is located at the center of the base of the ventricular mass. |
MONDO:0002070 |
|
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|
|
Additional information: This code is used by some as synonymous with the perimembranous, conoventricular, Type II, or the paramembranous defects. Although best used to describe the perimembranous defect that opens centrally at the base of the right ventricle, this term might be used to code perimembranous defects with inlet or outlet extension. It is recommended, however, that the more precise terms be used whenever possible for coding the latter lesions. It should also not be used to code an inlet ventricular septal defect, or the so-called atrioventricular canal ventricular septal defect. More specific terms exist for coding these entities. It is used by some to describe an isolated perimembranous ventricular septal defect without extension, although it is unlikely that perimembranous defects exist in the absence of deficiency of their muscular perimeter. The conoventricular ventricular septal defect with malalignment should be coded as an outlet defect, as should the perimembranous defect opening to the outlet of the right ventricle. Such defects can also extend to become doubly committed and juxta-arterial (conal septal hypoplasia) when there is also fibrous continuity between the leaflets of the arterial valves or when there is a common arterial valve. Specific codes exist for these variants, which ideally should not be coded using this term. |
|
| MONDO:0973567 |
anaphylaxis secondary to mast cell disorder |
icd11.foundation:2023405973 |
MONDO:equivalentTo |
Anaphylaxis secondary to mast cell disorder |
Symptoms of anaphylaxis secondary to mast cell disorders result from excessive mast cell mediator release, especially histamine, and may include pruritus and flushing, abdominal pain, diarrhea, dyspnoea, tachycardia, or profound hypotension. It happens in both children and adults, but in adults it can occur even without urticaria pigmentosa lesions. Levels of basal tryptase are constantly high. Fatal anaphylaxis has been described following hymenoptera stings and in the preoperative period. |
MONDO:0100053 |
| MONDO:0973568 |
differentiated retinoblastoma |
icd11.foundation:2023406823 |
MONDO:equivalentTo |
Differentiated retinoblastoma |
|
MONDO:0008380 |
| MONDO:0973569 |
balanitis, not otherwise specified |
icd11.foundation:2023646871 |
MONDO:equivalentTo |
Balanitis, not otherwise specified |
|
MONDO:0001618 |
| MONDO:0973570 |
squamous cell carcinomas of lower third of oesophagus |
icd11.foundation:202374612 |
MONDO:equivalentTo |
Squamous cell carcinomas of lower third of oesophagus |
|
MONDO:0005580 |
| MONDO:0973571 |
aminoacylase deficiency |
icd11.foundation:2023835017 |
MONDO:equivalentTo |
Aminoacylase deficiency |
This refers to deficiency in the enzyme that belongs to the family of hydrolases, those acting on carbon-nitrogen bonds other than peptide bonds, specifically in linear amides. |
MONDO:0019213 |
| MONDO:0973572 |
interrupted aortic arch distal to subclavian artery, type a |
icd11.foundation:2023865940 |
MONDO:equivalentTo |
Interrupted aortic arch distal to subclavian artery, type A |
A congenital cardiovascular malformation of the aorta in which there is an absence of luminal continuity distal to the subclavian artery ipsilateral to the arch. |
MONDO:0009010 |
| MONDO:0973573 |
acute respiratory failure, type i |
icd11.foundation:2024199586 |
MONDO:equivalentTo |
Acute respiratory failure, Type I |
When acute respiratory failure causes a low level of oxygen in the blood without a high level of carbon dioxide, it's called hypoxemic acute respiratory failure. |
MONDO:0001208 |
| MONDO:0973574 |
squamous cell carcinoma involving overlapping sites of oropharynx |
icd11.foundation:2024620815 |
MONDO:equivalentTo |
Squamous cell carcinoma involving overlapping sites of oropharynx |
|
MONDO:0044704 |
| MONDO:0973575 |
follicular centroblastic-centrocytic lymphoma |
icd11.foundation:2025013700 |
MONDO:equivalentTo |
Follicular centroblastic-centrocytic lymphoma |
|
MONDO:0018906 |
| MONDO:0973576 |
anaphylaxis provoked by physical factors |
icd11.foundation:2025061243 |
MONDO:equivalentTo |
Anaphylaxis provoked by physical factors |
Anaphylaxis provoked by physical factors covers a group of anaphylaxis phenotypes in which physical factors are the main triggers. The most relevant are: exercise-induced anaphylaxis, exercise-induced anaphylaxis dependent on food, cold-induced anaphylaxis. |
MONDO:0100053 |
| MONDO:0973577 |
post-schizophrenic depression |
icd11.foundation:2025798471 |
MONDO:equivalentTo |
Post-schizophrenic depression |
A depressive episode, which may be prolonged, arising in the aftermath of a schizophrenic illness. Some schizophrenic symptoms, either "positive" or "negative", must still be present but they no longer dominate the clinical picture. These depressive states are associated with an increased risk of suicide. If the patient no longer has any schizophrenic symptoms, a depressive episode should be diagnosed (F32.-). If schizophrenic symptoms are still florid and prominent, the diagnosis should remain that of the appropriate schizophrenic subtype (F20.0-F20.3). |
MONDO:0005090 |
| MONDO:0973578 |
portal vein atresia |
icd11.foundation:2026008454 |
MONDO:equivalentTo |
Portal vein atresia |
|
MONDO:0018811 |
| MONDO:0973579 |
adrenal gland atrophy |
icd11.foundation:202633477 |
MONDO:equivalentTo |
Adrenal gland atrophy |
|
MONDO:0000004 |
| MONDO:0973580 |
hermansky-pudlak syndrome type 8 |
icd11.foundation:2026929192 |
MONDO:equivalentTo |
Hermansky-Pudlak syndrome type 8 |
|
MONDO:0019312 |
| MONDO:0973581 |
oligo-ovulation |
icd11.foundation:2027425674 |
MONDO:equivalentTo |
Oligo-ovulation |
Oligo-ovulation (less than 4 ovulations in the last 12 months) not related to described categories of endocrine dysfunction. Excludes anovulation related to PCOS, hyperprolactinaemia or amenorrhea. |
MONDO:0001889 |
| MONDO:0973582 |
skeletal fluorosis, neck |
icd11.foundation:2027786746 |
MONDO:equivalentTo |
Skeletal fluorosis, neck |
|
MONDO:0400003 |
| MONDO:0973583 |
acute ulcerative pharyngitis |
icd11.foundation:2028159831 |
MONDO:equivalentTo |
Acute ulcerative pharyngitis |
|
MONDO:0020600 |
| MONDO:0973584 |
benign summer eruption |
icd11.foundation:2028246658 |
MONDO:equivalentTo |
Benign summer eruption |
|
MONDO:0041182 |
| MONDO:0973585 |
galactosuria |
icd11.foundation:2028270867 |
MONDO:equivalentTo |
Galactosuria |
|
MONDO:0017690 |
| MONDO:0973586 |
subdiaphragmatic peritonitis |
icd11.foundation:2028342898 |
MONDO:equivalentTo |
Subdiaphragmatic peritonitis |
|
MONDO:0004522 |
| MONDO:0973587 |
nodular corneal degeneration |
icd11.foundation:2028977358 |
MONDO:equivalentTo |
Nodular corneal degeneration |
|
MONDO:0001515 |
| MONDO:0973588 |
4-hydroxybutyric aciduria |
icd11.foundation:2031643850 |
MONDO:equivalentTo |
4-hydroxybutyric aciduria |
The 4-hydroxybutyricaciduria deficiency is a metabolic disorder with a neurological presentation ranging from mild to severe. It is a rare disease with around 350 cases reported. The most frequent symptoms are psychomotor retardation, delayed speech development, hypotonia and ataxia. Transmission is autosomal recessive and mutations in the SSADH (Succinic Semialdehyde Dehydrogenase NAD(+)-Dependant) gene, located on chromosome 6p22, have been reported. The key biochemical feature is an accumulation of gamma-hydroxybutyrate in urine, plasma and cerebro-spinal fluid. There is no efficient treatment available. |
MONDO:0000698 |
| MONDO:0973589 |
myocardial fatigue |
icd11.foundation:2031753305 |
MONDO:equivalentTo |
Myocardial fatigue |
|
MONDO:0005252 |
| MONDO:0973590 |
19p13.3 deletion |
icd11.foundation:2033019033 |
MONDO:equivalentTo |
19p13.3 deletion |
|
MONDO:0016897 |
| MONDO:0973591 |
cholesteatoma of mastoid |
icd11.foundation:203313984 |
MONDO:equivalentTo |
Cholesteatoma of mastoid |
|
MONDO:0006533 |
| MONDO:0973592 |
progressive spinal cord paralysis |
icd11.foundation:2033361489 |
MONDO:equivalentTo |
Progressive spinal cord paralysis |
|
MONDO:0020128 |
| MONDO:0973593 |
post typhoid abscess |
icd11.foundation:2033800177 |
MONDO:equivalentTo |
Post typhoid abscess |
|
MONDO:0005619 |
| MONDO:0973594 |
toxic methaemoglobinaemia |
icd11.foundation:2034055495 |
MONDO:equivalentTo |
Toxic methaemoglobinaemia |
|
MONDO:0018740 |
| MONDO:0973595 |
secondary impetiginisation of the skin |
icd11.foundation:2034126013 |
MONDO:equivalentTo |
Secondary impetiginisation of the skin |
Secondary infection of dermatoses such as atopic eczema by streptococci or staphylococci. |
MONDO:0004592 |
| MONDO:0973596 |
immunodeficiency with cd46 deficiency |
icd11.foundation:2034677150 |
MONDO:equivalentTo |
Immunodeficiency with CD46 deficiency |
Deficiency of CD46 is a predisposing factor for numerous disease conditions arising from complement-mediated self-attack. Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial haemolytic uremic syndrome. |
MONDO:0015136 |
| MONDO:0973597 |
late congenital syphilis, latent |
icd11.foundation:20350466 |
MONDO:equivalentTo |
Late congenital syphilis, latent |
|
MONDO:0005821 |
| MONDO:0973598 |
adenosquamous carcinoma of oropharynx |
icd11.foundation:2035757525 |
MONDO:equivalentTo |
Adenosquamous carcinoma of oropharynx |
|
MONDO:0044704 |
| MONDO:0973599 |
bids syndrome |
icd11.foundation:2035855479 |
MONDO:equivalentTo |
BIDS syndrome |
BIDS syndrome (or Amish Brittle Hair syndrome) is a form of trichothiodystrophy (sulphur-deficient brittle hair) characterised by Brittle hair, Intellectual impairment, Decreased fertility, and Short stature. |
MONDO:0018053 |
| MONDO:0973600 |
pulmonary dirofilariasis |
icd11.foundation:2035997192 |
MONDO:equivalentTo |
Pulmonary dirofilariasis |
Infection induced by Dirofilariasis immitis larvae, which lodge in small pulmonary arteries causing thoracic pain (both pleural and nonpleural), purulent or haemoptoic sputum, haemoptysis, dyspnea, malaise and myalgia. |
MONDO:0015636 |
| MONDO:0973601 |
eruptive disseminated porokeratosis |
icd11.foundation:2036035011 |
MONDO:equivalentTo |
Eruptive disseminated porokeratosis |
A rare widespread eruptive form of porokeratosis which may extend over the whole body surface. It has been associated both with cancer and with underlying immunosuppression. |
MONDO:0006602 |
| MONDO:0973602 |
bursitis with unknown aetiology, shoulder region |
icd11.foundation:2037221374 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, shoulder region |
|
MONDO:0002471 |
| MONDO:0973603 |
cauda equina syndrome due to tumour |
icd11.foundation:2037484313 |
MONDO:equivalentTo |
Cauda equina syndrome due to tumour |
Narrowing, compression or dysfunction of the cauda equina is related to an intervention such as surgery, epidural procedure, lumbar puncture or any local intervention leading to infection or bleeding which leads to narrowing of the lumbar canal. |
MONDO:0005693 |
| MONDO:0973604 |
enterobiasis due to enterobius gregorii |
icd11.foundation:2039460328 |
MONDO:equivalentTo |
Enterobiasis due to Enterobius gregorii |
|
MONDO:0005746 |
| MONDO:0973605 |
idiopathic aseptic osteonecrosis, head |
icd11.foundation:2040133603 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, head |
|
MONDO:0018380 |
| MONDO:0973606 |
distal deletions of the long arm of chromosome 11 |
icd11.foundation:204045860 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 11 |
|
MONDO:0016910 |
| MONDO:0973607 |
benign neoplasm of dorsal surface of tongue |
icd11.foundation:2040927056 |
MONDO:equivalentTo |
Benign neoplasm of dorsal surface of tongue |
|
MONDO:0021476 |
| MONDO:0973608 |
long qt syndrome type 2 |
icd11.foundation:2041488028 |
MONDO:equivalentTo |
Long QT syndrome type 2 |
The LQT2 type is the second most common gene location that is affected in long QT syndrome, making up about 25 to 30 percent of all cases. This form of long QT syndrome most likely involves mutations of the human ether-a-go-go related gene (hERG) on chromosome 7. The hERG gene (also known as KCNH2) is part of the rapid component of the potassium rectifying current (IKr). (The IKr current is mainly responsible for the termination of the cardiac action potential, and therefore the length of the QT interval.) The normally functioning hERG gene allows protection against early after depolarizations (EADs). |
MONDO:0019171 |
| MONDO:0973609 |
erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 |
icd11.foundation:2041499466 |
MONDO:equivalentTo |
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 |
|
MONDO:0001676 |
| MONDO:0973610 |
undescended testicle, unilateral |
icd11.foundation:2041788595 |
MONDO:equivalentTo |
Undescended testicle, unilateral |
The situation in which one of the two testicles in a male has not transitioned from the abdomen, and therefore appears absent from the scrotum. |
MONDO:0009047 |
| MONDO:0973611 |
adiposogenital dystrophy |
icd11.foundation:2042355544 |
MONDO:equivalentTo |
Adiposogenital dystrophy |
|
MONDO:0015127 |
| MONDO:0973612 |
bacterial pyomyositis |
icd11.foundation:2042409526 |
MONDO:equivalentTo |
Bacterial pyomyositis |
|
MONDO:0016127 |
| MONDO:0973613 |
vestibulitis of ear |
icd11.foundation:2042672715 |
MONDO:equivalentTo |
Vestibulitis of ear |
|
MONDO:0002008 |
| MONDO:0973614 |
benign neoplasm of the postcricoid region |
icd11.foundation:2042782645 |
MONDO:equivalentTo |
Benign neoplasm of the postcricoid region |
|
MONDO:0021461 |
| MONDO:0973615 |
familial partial lipodystrophy associated with pparg mutations |
icd11.foundation:2042807932 |
MONDO:equivalentTo |
Familial partial lipodystrophy associated with PPARG mutations |
Familial partial lipodystrophy associated with PPARG (peroxisome proliferative activated receptor gamma) mutations belongs to the group of lipodystrophy syndromes characterised by anomalies of adipose tissue distribution and often associated with severe insulin resistance manifested by hyperinsulinaemia (insulin levels above 20mUI/l), carbohydrate intolerance or diabetes, hypertriglyceridaemia with low levels of high-density lipoproteins (HDL) and arterial hypertension. Acanthosis nigricans, hepatic steatosis and polycystic ovary syndrome are also frequent. |
MONDO:0020088 |
| MONDO:0973616 |
variable vessel vasculitis |
icd11.foundation:2042958498 |
MONDO:equivalentTo |
Variable vessel vasculitis |
Vasculitis with no predominant type of vessel involved that can affect vessels of any size (small, medium, and large) and type (arteries, veins, and capillaries). |
MONDO:0018882 |
| MONDO:0973617 |
extralobar sequestration of lung |
icd11.foundation:2043116979 |
MONDO:equivalentTo |
Extralobar sequestration of lung |
|
MONDO:0017843 |
| MONDO:0973618 |
subphrenic peritonitis |
icd11.foundation:2043152322 |
MONDO:equivalentTo |
Subphrenic peritonitis |
|
MONDO:0004522 |
| MONDO:0973619 |
chronic pharyngotracheitis |
icd11.foundation:2043301158 |
MONDO:equivalentTo |
Chronic pharyngotracheitis |
|
MONDO:0005607 |
| MONDO:0973620 |
non-invasive aspergillosis |
icd11.foundation:2043496606 |
MONDO:equivalentTo |
Non-invasive aspergillosis |
|
MONDO:0005657 |
| MONDO:0973621 |
anhydramnios |
icd11.foundation:2043840379 |
MONDO:equivalentTo |
Anhydramnios |
|
MONDO:0005881 |
| MONDO:0973622 |
cerebrofacial arteriovenous metameric syndrome type 2 |
icd11.foundation:2044557254 |
MONDO:equivalentTo |
Cerebrofacial arteriovenous metameric syndrome type 2 |
Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterised by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex. |
MONDO:0015405 |
| MONDO:0973623 |
chronic empyema of sphenoid sinus |
icd11.foundation:2045675147 |
MONDO:equivalentTo |
Chronic empyema of sphenoid sinus |
|
MONDO:0001123 |
| MONDO:0973624 |
annular and circinate pustular psoriasis |
icd11.foundation:2045991554 |
MONDO:equivalentTo |
Annular and circinate pustular psoriasis |
Patterns of subacute or chronic pustular psoriasis which may be confused with erythema annulare centrifugum. Lesions begin as discrete areas of erythema which become raised and oedematous before expanding centrifugally to form annular and circinate plaques. Pustules appear at the advancing margins and leave a trailing fringe of scale as the plaques enlarge. |
MONDO:0022205 |
| MONDO:0973625 |
vitamin d deficiency rickets |
icd11.foundation:2047696084 |
MONDO:equivalentTo |
Vitamin D deficiency rickets |
Rickets is a disease of growing bone that is due to unmineralized matrix at the growth plates and occurs in children only before fusion of the epiphyses. There are many causes of rickets, including vitamin D disorders, calcium deficiency, phosphorous deficiency, and distal renal tubular acidosis. With the increased survival rate of very low birthweight infants, rickets in this age group has become a significant problem. |
MONDO:0100471 |
| MONDO:0973626 |
electron transfer flavoprotein-ubiquinone oxidoreductase deficiency |
icd11.foundation:2048018474 |
MONDO:equivalentTo |
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency |
This refers to deficiency in an enzyme that transfers electrons from electron-transferring flavoprotein in the mitochondrial matrix, to the ubiquinone pool in the inner mitochondrial membrane. |
MONDO:0009282 |
| MONDO:0973627 |
familial hemiplegic migraine with other loci |
icd11.foundation:2050770058 |
MONDO:equivalentTo |
Familial hemiplegic migraine with other loci |
|
MONDO:0000700 |
| MONDO:0973628 |
central nervous system calcification - deafness - tubular acidosis - anaemia |
icd11.foundation:2051416590 |
MONDO:equivalentTo |
Central nervous system calcification - deafness - tubular acidosis - anaemia |
Central nervous system calcification - deafness - tubular acidosis - anaemia syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. |
MONDO:0019589 |
| MONDO:0973629 |
hypertrophic hereditary neuropathy |
icd11.foundation:2051913233 |
MONDO:equivalentTo |
Hypertrophic hereditary neuropathy |
|
MONDO:0015358 |
| MONDO:0973630 |
endotrachelitis |
icd11.foundation:2053317966 |
MONDO:equivalentTo |
Endotrachelitis |
|
MONDO:0002345 |
| MONDO:0973631 |
distal deletions of the short arm of chromosome 6 |
icd11.foundation:2053477293 |
MONDO:equivalentTo |
Distal deletions of the short arm of chromosome 6 |
|
MONDO:0016888 |
| MONDO:0973632 |
taurodontia - absent teeth - sparse hair |
icd11.foundation:2053612224 |
MONDO:equivalentTo |
Taurodontia - absent teeth - sparse hair |
Taurodontia - absent teeth - sparse hair syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. |
MONDO:0019287 |
| MONDO:0973633 |
classical phenylketonuria, phenylalanine hydroxylase total deficiency |
icd11.foundation:2053644170 |
MONDO:equivalentTo |
Classical phenylketonuria, phenylalanine hydroxylase total deficiency |
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterised by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional, with phenylalanine hydroxylase total deficiency. |
MONDO:0019259 |
| MONDO:0973634 |
retinopathy of prematurity, stage 0 |
icd11.foundation:2053929171 |
MONDO:equivalentTo |
Retinopathy of prematurity, Stage 0 |
Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature" (Stage 0). |
MONDO:0006952 |
| MONDO:0973635 |
panniculitis, unspecified, shoulder region |
icd11.foundation:2054208433 |
MONDO:equivalentTo |
Panniculitis, unspecified, shoulder region |
|
MONDO:0006591 |
| MONDO:0973636 |
autosomal recessive hypophosphataemic rickets |
icd11.foundation:2054303530 |
MONDO:equivalentTo |
Autosomal recessive hypophosphataemic rickets |
Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterised by hypophosphatemia, rickets and/or osteomalacia and slow growth. |
MONDO:0000044 |
| MONDO:0973637 |
schistosomal granuloma of central nervous system |
icd11.foundation:2054633703 |
MONDO:equivalentTo |
Schistosomal granuloma of central nervous system |
|
MONDO:0005874 |
| MONDO:0973638 |
drug-induced osteoporosis, lower leg |
icd11.foundation:2054962248 |
MONDO:equivalentTo |
Drug-induced osteoporosis, lower leg |
|
MONDO:0024650 |
| MONDO:0973639 |
extensive aganglionosis hirschsprung disease |
icd11.foundation:2055378918 |
MONDO:equivalentTo |
Extensive aganglionosis Hirschsprung disease |
A subtype of Hirschsprung disease, in which affected segment not only confines to the colon, but also extends the more proximal small intestine beyond this point (30-50cm of the terminal ileum). |
MONDO:0018309 |
| MONDO:0973640 |
erosion of cervix with cervicitis |
icd11.foundation:2055658974 |
MONDO:equivalentTo |
Erosion of cervix with cervicitis |
|
MONDO:0002345 |
| MONDO:0973641 |
benign tumour of mucosa of lip |
icd11.foundation:2055795477 |
MONDO:equivalentTo |
Benign tumour of mucosa of lip |
|
MONDO:0021496 |
| MONDO:0973642 |
inflammation of accessory sinus |
icd11.foundation:2056082629 |
MONDO:equivalentTo |
Inflammation of accessory sinus |
|
MONDO:0006031 |
| MONDO:0973643 |
colitis due to balantidium coli |
icd11.foundation:205614549 |
MONDO:equivalentTo |
Colitis due to Balantidium coli |
This is an inflammation of large intestine caused by infection with the largest protozoan, Balantidium coli. |
MONDO:0005662 |
| MONDO:0973644 |
patchy alopecia areata of scalp |
icd11.foundation:2056462622 |
MONDO:equivalentTo |
Patchy alopecia areata of scalp |
The commonest form of alopecia areata in which one or more usually circular patches of scalp hair loss develop. |
MONDO:0005340 |
| MONDO:0973645 |
combined diastolic and systolic secondary hypertension |
icd11.foundation:2056837116 |
MONDO:equivalentTo |
Combined diastolic and systolic secondary hypertension |
|
MONDO:0001200 |
| MONDO:0973646 |
postmenopausal osteoporosis, neck |
icd11.foundation:2056894082 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, neck |
|
MONDO:0008159 |
| MONDO:0973647 |
peripheral corneal degeneration |
icd11.foundation:205712433 |
MONDO:equivalentTo |
Peripheral corneal degeneration |
|
MONDO:0001515 |
| MONDO:0973648 |
poorly-differentiated thymic neuroendocrine carcinoma |
icd11.foundation:2058240078 |
MONDO:equivalentTo |
Poorly-differentiated thymic neuroendocrine carcinoma |
|
MONDO:0020516 |
| MONDO:0973649 |
budd-chiari syndrome with hepatic vein thrombosis |
icd11.foundation:2058531345 |
MONDO:equivalentTo |
Budd-Chiari syndrome with hepatic vein thrombosis |
|
MONDO:0010947 |
| MONDO:0973650 |
type v caroli disease multiple intrahepatic bile duct dilatations |
icd11.foundation:2058629937 |
MONDO:equivalentTo |
Type V Caroli disease multiple intrahepatic bile duct dilatations |
|
MONDO:0018805 |
| MONDO:0973651 |
metaphyseal chondrodysplasia, schmid type |
icd11.foundation:2059541564 |
MONDO:equivalentTo |
Metaphyseal chondrodysplasia, Schmid type |
Schmid metaphyseal chondrodysplasia is a rare skeletal dysplasia characterised by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. |
MONDO:0019693 |
| MONDO:0973652 |
lens-induced anterior uveitis |
icd11.foundation:2059865994 |
MONDO:equivalentTo |
Lens-induced anterior uveitis |
Phacoanaphylaxis/lens-induced uveitis occurs in the setting of a ruptured or degenerative lens capsule and is characterised by a granulomatous antigenic reaction to lens protein. |
MONDO:0006651 |
| MONDO:0973653 |
thibierge-weissenbach syndrome |
icd11.foundation:2060053089 |
MONDO:equivalentTo |
Thibierge-Weissenbach syndrome |
|
MONDO:0005100 |
| MONDO:0973654 |
double pterygium of eye |
icd11.foundation:2061893204 |
MONDO:equivalentTo |
Double pterygium of eye |
|
MONDO:0005085 |
| MONDO:0973655 |
congenital dilatation of trachea |
icd11.foundation:2062252089 |
MONDO:equivalentTo |
Congenital dilatation of trachea |
|
MONDO:0015505 |
| MONDO:0973656 |
limb-girdle muscular dystrophy 2l, an05 gene mutation |
icd11.foundation:2062556044 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2L, AN05 gene mutation |
Limb-girdle muscular dystrophy-2L (LGMD2L) is caused by homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. Miyoshi muscular dystrophy-3 is also caused by mutation in the ANO5 gene. Age at onset ranges from 11 to 50 years. The majority of patients report muscle pain. Although the severity of the phenotype is variable, all affected individuals have prominent weakness and atrophy of the quadriceps femoris muscles, often with asymmetric involvement. |
MONDO:0015152 |
| MONDO:0973657 |
lipoblastomatosis of unspecified site |
icd11.foundation:2062844959 |
MONDO:equivalentTo |
Lipoblastomatosis of unspecified site |
|
MONDO:0005106 |
| MONDO:0973658 |
cerebellar ataxia - ectodermal dysplasia |
icd11.foundation:2062907441 |
MONDO:equivalentTo |
Cerebellar ataxia - ectodermal dysplasia |
Cerebellar ataxia - ectodermal dysplasia is a very rare disease, characterised by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. |
MONDO:0019287 |
| MONDO:0973659 |
chromosome y duplication |
icd11.foundation:2063006508 |
MONDO:equivalentTo |
Chromosome Y duplication |
|
MONDO:0020061 |
| MONDO:0973660 |
leukocyte adhesion deficiency type 3 |
icd11.foundation:2063283326 |
MONDO:equivalentTo |
Leukocyte adhesion deficiency type 3 |
Leukocyte adhesion deficiency type III (LAD-III) is a form of Leukocyte adhesion deficiency characterised by both severe bacterial infections and a severe bleeding disorder. |
MONDO:0017570 |
| MONDO:0973661 |
central retinal vein occlusion with iris neovascularisation |
icd11.foundation:20636436 |
MONDO:equivalentTo |
Central retinal vein occlusion with iris neovascularisation |
The central retinal vein is the venous equivalent of the central retinal artery and, like that blood vessel, it can suffer from occlusion, similar to that seen in ocular ischemic syndrome. This diagnosis is with the formation of functional microvascular networks with red blood cell perfusion of the iris. Neovascularization differs from angiogenesis in that angiogenesis is mainly characterised by the protrusion and outgrowth of capillary buds and sprouts from pre-existing blood vessels. |
MONDO:0002303 |
| MONDO:0973662 |
mechanical lagophthalmos lower eyelid |
icd11.foundation:2064661860 |
MONDO:equivalentTo |
Mechanical lagophthalmos lower eyelid |
This is the mechanical inability to close the eyelids completely. Blinking covers the eye with a thin layer of tear fluid, thereby promoting a moist environment necessary for the cells of the exterior part of the eye. The tears also flush out foreign bodies and wash them away. This is crucial to maintain lubrication and proper eye health. If this process is impaired, as in lagophthalmos, the eye can suffer abrasions and infections. Lagophthalmos leads to corneal drying and ulceration. This diagnosis is of the lower eyelid. |
MONDO:0001622 |
| MONDO:0973663 |
developmental glaucoma |
icd11.foundation:2064760868 |
MONDO:equivalentTo |
Developmental glaucoma |
|
MONDO:0019503 |
| MONDO:0973664 |
follicular conjunctivitis |
icd11.foundation:2065252360 |
MONDO:equivalentTo |
Follicular conjunctivitis |
|
MONDO:0003799 |
| MONDO:0973665 |
other tenosynovitis or tendinitis |
icd11.foundation:2065273034 |
MONDO:equivalentTo |
Other tenosynovitis or tendinitis |
This is inflammation of the fluid-filled sheath that surrounds a tendon and/or inflammation localised within the tendon itself which does not fit in another category. |
MONDO:0004855 |
| MONDO:0973666 |
kaschin-beck disease, hand |
icd11.foundation:2065626822 |
MONDO:equivalentTo |
Kaschin-Beck disease, hand |
|
MONDO:0005610 |
| MONDO:0973667 |
congenital subglottic stenosis, grade 2 |
icd11.foundation:206578277 |
MONDO:equivalentTo |
Congenital subglottic stenosis, grade 2 |
A condition characterised by between 51% and 74% stenosis according to the Cotton-Meyer scale. |
MONDO:0015395 |
| MONDO:0973668 |
dysembryoplastic neuroepithelial tumour of brain |
icd11.foundation:2066698505 |
MONDO:equivalentTo |
Dysembryoplastic neuroepithelial tumour of brain |
|
MONDO:0016729 |
| MONDO:0973669 |
complex regional pain syndrome type i |
icd11.foundation:2067142665 |
MONDO:equivalentTo |
Complex regional pain syndrome type I |
CRPS Type I develops after any type of trauma, especially limb fracture or soft tissue lesion. CRPS Type I does not involve discrete nerve damage. Diagnostic signs and symptoms of CRPS Type I and CRPS Type II are identical. |
MONDO:0019369 |
| MONDO:0973670 |
cerebro-oculo-facio-skeletal syndrome |
icd11.foundation:2067824754 |
MONDO:equivalentTo |
Cerebro-oculo-facio-skeletal syndrome |
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterised by a severe sensorineural involvement. COFS syndrome constitutes the prenatal extreme form of Cockayne syndrome. Clinically, the following criteria are found: congenital microcephaly, congenital cataract and/or microphthalmia, arthrogryposis, severe psychomotor developmental delay, height-weight growth delay (principally postnatal) and facial dysmorphism (prominent metopic suture, micrognathism), axial hypotonia with peripheral hypertonia and feeding difficulties. |
MONDO:0016006 |
| MONDO:0973671 |
hypoparathyroidism associated with granulomatous disease |
icd11.foundation:2068796700 |
MONDO:equivalentTo |
Hypoparathyroidism associated with granulomatous disease |
This refers to a decreased function of the parathyroid glands with underproduction of parathyroid hormone. This diagnosis is due to a tiny collection of immune cells known as macrophages. |
MONDO:0015357 |
| MONDO:0973672 |
sarcoidosis of the musculoskeletal system |
icd11.foundation:2069508853 |
MONDO:equivalentTo |
Sarcoidosis of the musculoskeletal system |
This is a syndrome involving abnormal collections of chronic inflammatory cells (granulomas) that can form as nodules in the musculoskeletal system. |
MONDO:0019338 |
| MONDO:0973673 |
solitary bone cyst, trunk |
icd11.foundation:2069597324 |
MONDO:equivalentTo |
Solitary bone cyst, trunk |
|
MONDO:0019372 |
| MONDO:0973674 |
penicillamine-induced acquired pseudoxanthoma elasticum |
icd11.foundation:2069891014 |
MONDO:equivalentTo |
Penicillamine-induced acquired pseudoxanthoma elasticum |
Pseudoxanthoma elasticum limited to the skin resulting from long-term administration of penicillamine. Inhibition of cross-linking of collagen and elastic fibres results in production of vastly increased amounts of abnormal elastin in the dermis. |
MONDO:0016441 |
| MONDO:0973675 |
ischaemic neuropathy, not elsewhere classified |
icd11.foundation:2071163549 |
MONDO:equivalentTo |
Ischaemic neuropathy, not elsewhere classified |
|
MONDO:0001397 |
| MONDO:0973676 |
aneurysmal bone cyst, multiple sites |
icd11.foundation:2071242389 |
MONDO:equivalentTo |
Aneurysmal bone cyst, multiple sites |
|
MONDO:0018815 |
| MONDO:0973677 |
episodic ataxia type 5 - cacnb4 mutation |
icd11.foundation:2072072482 |
MONDO:equivalentTo |
Episodic ataxia type 5 - CACNB4 mutation |
Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterised by recurrent episodes of vertigo and ataxia lasting several hours. |
MONDO:0016227 |
| MONDO:0973678 |
immunoproliferative small intestinal disease |
icd11.foundation:2072862127 |
MONDO:equivalentTo |
Immunoproliferative small intestinal disease |
|
MONDO:0015045 |
| MONDO:0973679 |
papillitis of tongue |
icd11.foundation:2073062327 |
MONDO:equivalentTo |
Papillitis of tongue |
|
MONDO:0006771 |
| MONDO:0973680 |
hidradenitis suppurativa of multiple sites |
icd11.foundation:2074349566 |
MONDO:equivalentTo |
Hidradenitis suppurativa of multiple sites |
Hidradenitis suppurativa involving more than a single site, typically both anogenital region and axillae |
MONDO:0006559 |
| MONDO:0973681 |
deletions of chromosome 11 |
icd11.foundation:2074372855 |
MONDO:equivalentTo |
Deletions of chromosome 11 |
|
MONDO:0020054 |
| MONDO:0973682 |
benign neoplasm of adenoid |
icd11.foundation:2074418623 |
MONDO:equivalentTo |
Benign neoplasm of adenoid |
|
MONDO:0021478 |
| MONDO:0973683 |
benign neoplasm of aryepiglottic fold |
icd11.foundation:207463722 |
MONDO:equivalentTo |
Benign neoplasm of aryepiglottic fold |
|
MONDO:0021461 |
| MONDO:0973684 |
acute myeloid leukaemia with mutated cebpa |
icd11.foundation:2074817491 |
MONDO:equivalentTo |
Acute myeloid leukaemia with mutated CEBPA |
An acute myeloid leukaemia with mutation of the CEBPA gene. It is usually associated with normal karyotype and most cases meet the criteria for acute myeloid leukaemia with or without maturation. Cases with normal karyotype have a favorable prognosis. |
MONDO:0020078 |
| MONDO:0973685 |
venous thromboembolism originating from lower limb |
icd11.foundation:2076303538 |
MONDO:equivalentTo |
Venous thromboembolism originating from lower limb |
Embolism from thrombus originating in the deep veins of the lower limb. |
MONDO:0005399 |
| MONDO:0973686 |
epiblepharon, bilateral |
icd11.foundation:2077443615 |
MONDO:equivalentTo |
Epiblepharon, bilateral |
This is characterised by a congenital horizontal fold of skin near the margin of the upper or lower eyelid caused by the abnormal insertion of muscle fibres. This extra fold of skin redirects the lashes into a vertical position, where they may contact the globe. This diagnosis is occurring in both eyes. |
MONDO:0020461 |
| MONDO:0973687 |
17p12-p11.2 deletion |
icd11.foundation:2077617819 |
MONDO:equivalentTo |
17p12-p11.2 deletion |
|
MONDO:0022754 |
| MONDO:0973688 |
toxic porphyria cutanea tarda |
icd11.foundation:2077970325 |
MONDO:equivalentTo |
Toxic porphyria cutanea tarda |
Porphyria cutanea tarda resulting from exposure to hexachlorobenzene and other polychlorinated aromatic hydrocarbons. It has occurred in epidemic form due to ingestion of hexachlorobenzene-treated wheat seedlings. |
MONDO:0015104 |
| MONDO:0973689 |
hereditary angioedema type ii |
icd11.foundation:2078615244 |
MONDO:equivalentTo |
Hereditary angioedema type II |
Hereditary angioedema associated with gene mutations resulting in functionally defective C1 inhibitor. |
MONDO:0019623 |
| MONDO:0973690 |
papular prurigo |
icd11.foundation:2079182048 |
MONDO:equivalentTo |
Papular prurigo |
Prurigo with a predominance of small papules. |
MONDO:0021739 |
| MONDO:0973691 |
senile hypertrophy of breast |
icd11.foundation:2079367033 |
MONDO:equivalentTo |
Senile hypertrophy of breast |
|
MONDO:0001100 |
| MONDO:0973692 |
progressive pseudobulbar palsy |
icd11.foundation:2080137619 |
MONDO:equivalentTo |
Progressive pseudobulbar palsy |
Spastic speech, difficulty in swallowing, emotional lability, brisk jaw jerk, release reflexes such as palmomental reflex due to involvement of craniobulbar tracts are the common features of progressive pseudobulbar palsy. Usually mild lower motor neuron signs observed in progressive bulbar palsy may also co-exist or may develop during the progression of the disorder. |
MONDO:0020128 |
| MONDO:0973693 |
galactosaemia |
icd11.foundation:2080157631 |
MONDO:equivalentTo |
Galactosaemia |
Galactosemia is a group of rare genetic metabolic disorders characterised by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms). |
MONDO:0017690 |
| MONDO:0973694 |
srd5a3 congenital disorder of glycosylation |
icd11.foundation:2080284881 |
MONDO:equivalentTo |
SRD5A3 congenital disorder of glycosylation |
This refers to SRD5A3 congenital disorder of the reaction in which a carbohydrate, i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another molecule (a glycosyl acceptor). |
MONDO:0017740 |
| MONDO:0973695 |
gastrointestinal complications of behet disease |
icd11.foundation:2080509860 |
MONDO:equivalentTo |
Gastrointestinal complications of Behet disease |
|
MONDO:0007191 |
| MONDO:0973696 |
beriberi heart disease |
icd11.foundation:2080562383 |
MONDO:equivalentTo |
Beriberi heart disease |
|
MONDO:0006676 |
| MONDO:0973697 |
thoracoomphalopagus |
icd11.foundation:2080906785 |
MONDO:equivalentTo |
Thoracoomphalopagus |
A condition characterised as conjoined twins that are united at the thorax and abdomen. |
MONDO:0958083 |
| MONDO:0973698 |
methioninaemia |
icd11.foundation:2081022517 |
MONDO:equivalentTo |
Methioninaemia |
|
MONDO:0019242 |
| MONDO:0973699 |
hyperplastic endocervicitis |
icd11.foundation:2081337398 |
MONDO:equivalentTo |
Hyperplastic endocervicitis |
|
MONDO:0002345 |
| MONDO:0973700 |
type iii renal tubular acidosis |
icd11.foundation:2081701152 |
MONDO:equivalentTo |
Type III renal tubular acidosis |
|
MONDO:0001909 |
| MONDO:0973701 |
zonular cataract |
icd11.foundation:2081820138 |
MONDO:equivalentTo |
Zonular cataract |
|
MONDO:0011060 |
| MONDO:0973702 |
endometriosis of the circulatory system |
icd11.foundation:2082014966 |
MONDO:equivalentTo |
Endometriosis of the circulatory system |
|
MONDO:0005133 |
| MONDO:0973703 |
acantholytic epidermolysis bullosa |
icd11.foundation:2082436712 |
MONDO:equivalentTo |
Acantholytic epidermolysis bullosa |
A rare autosomal recessive form of suprabasal epidermolysis bullosa simplex due to mutations in the DSP (6p24) gene encoding desmoplakin, a protein essential for epidermal cohesion. It normally leads to premature death in the neonatal period. |
MONDO:0015550 |
| MONDO:0973704 |
limb-girdle muscular dystrophy 2q, plectin deficiency |
icd11.foundation:208250225 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2Q, plectin deficiency |
Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is caused by homozygous mutation in the PLEC1 gene. It is characterised by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence. |
MONDO:0015152 |
| MONDO:0973705 |
pulmonary infection due to mycobacterium avium-intracellulare complex |
icd11.foundation:2082736978 |
MONDO:equivalentTo |
Pulmonary infection due to Mycobacterium avium-intracellulare complex |
|
MONDO:0018469 |
| MONDO:0973706 |
contact dermatitis of eyelid |
icd11.foundation:2083171222 |
MONDO:equivalentTo |
Contact dermatitis of eyelid |
|
MONDO:0002137 |
| MONDO:0973707 |
secondary pulmonary lymphangiectasia |
icd11.foundation:2083295816 |
MONDO:equivalentTo |
Secondary pulmonary lymphangiectasia |
|
MONDO:0009933 |
| MONDO:0973708 |
polyradiculitis |
icd11.foundation:2083889999 |
MONDO:equivalentTo |
Polyradiculitis |
|
MONDO:0001824 |
| MONDO:0973709 |
aneurysmal bone cyst, hand |
icd11.foundation:2084005376 |
MONDO:equivalentTo |
Aneurysmal bone cyst, hand |
|
MONDO:0018815 |
| MONDO:0973710 |
presenile psychotic mental disorder |
icd11.foundation:2084912553 |
MONDO:equivalentTo |
Presenile psychotic mental disorder |
|
MONDO:0001627 |
| MONDO:0973711 |
maternal uniparental disomy of chromosome 15 |
icd11.foundation:2085342699 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 15 |
|
MONDO:0020056 |
| MONDO:0973712 |
benign neoplasm of tonsillar pillar |
icd11.foundation:2085937848 |
MONDO:equivalentTo |
Benign neoplasm of tonsillar pillar |
|
MONDO:0021479 |
| MONDO:0973713 |
mannose-p-dolichol utilisation defect 1 |
icd11.foundation:2086182172 |
MONDO:equivalentTo |
Mannose-P-dolichol utilisation defect 1 |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene, localised to the p13.1-p12 region of chromosome 17. |
MONDO:0017749 |
| MONDO:0973714 |
drug-induced osteoporosis, trunk |
icd11.foundation:2086195100 |
MONDO:equivalentTo |
Drug-induced osteoporosis, trunk |
|
MONDO:0024650 |
| MONDO:0973715 |
kaschin-beck disease, multiple sites |
icd11.foundation:2086483375 |
MONDO:equivalentTo |
Kaschin-Beck disease, multiple sites |
|
MONDO:0005610 |
| MONDO:0973716 |
xeroderma pigmentosum g |
icd11.foundation:2086751990 |
MONDO:equivalentTo |
Xeroderma pigmentosum G |
Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers. Clinical manifestations can vary as some patients present with a mild XP phenotype (UV sensitivity, hyper- or hypo-pigmented skin lesions and increased incidence of skin cancer) and others combine symptoms of XP with systemic and neurological manifestations of Cockayne syndrome (XP/CS complex). |
MONDO:0019600 |
| MONDO:0973717 |
distal deletions of the long arm of chromosome 18 |
icd11.foundation:2087032745 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 18 |
|
MONDO:0011147 |
| MONDO:0973718 |
tuberculous mononeuropathy |
icd11.foundation:2088190204 |
MONDO:equivalentTo |
Tuberculous mononeuropathy |
|
MONDO:0005696 |
| MONDO:0973719 |
constriction of ureter with infection |
icd11.foundation:2088729289 |
MONDO:equivalentTo |
Constriction of ureter with infection |
|
MONDO:0021750 |
| MONDO:0973720 |
syndromic diffuse palmoplantar keratodermas |
icd11.foundation:2088802678 |
MONDO:equivalentTo |
Syndromic diffuse palmoplantar keratodermas |
Diffuse palmoplantar keratoderma associated with extracutaneous abnormalities. |
MONDO:0017666 |
| MONDO:0973721 |
short stature - deafness - neutrophil dysfunction - dysmorphism |
icd11.foundation:208951560 |
MONDO:equivalentTo |
Short stature - deafness - neutrophil dysfunction - dysmorphism |
Short stature - deafness - neutrophil dysfunction - dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). |
MONDO:0019589 |
| MONDO:0973722 |
placental site trophoblastic tumour |
icd11.foundation:2089729304 |
MONDO:equivalentTo |
Placental site trophoblastic tumour |
Placental site trophoblastic tumour is a rare gestational trophoblastic tumour (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. Indicative signs are irregular metrorrhagia some time after spontaneous miscarriage or VTP, presence of metastasis or unexplained metrorrhagia in the weeks and months following normal childbirth or ectopic pregnancy. Chorionic gonadotropin (hCG) levels are usually low at about 10 to 100 IU/l (N < 2 to 5 IU/l). |
MONDO:0021498 |
| MONDO:0973723 |
periodic paralysis 1 |
icd11.foundation:2090446456 |
MONDO:equivalentTo |
Periodic paralysis 1 |
|
MONDO:0008223 |
| MONDO:0973724 |
post traumatic osteoporosis |
icd11.foundation:2090752385 |
MONDO:equivalentTo |
Post traumatic osteoporosis |
|
MONDO:0005298 |
| MONDO:0973725 |
distal 16p11.2 deletion |
icd11.foundation:209083205 |
MONDO:equivalentTo |
Distal 16p11.2 deletion |
|
MONDO:0016894 |
| MONDO:0973726 |
cicatricial lagophthalmos lower eyelid |
icd11.foundation:2090867383 |
MONDO:equivalentTo |
Cicatricial lagophthalmos lower eyelid |
This is the inability to close the eyelids completely with areas of fibrous tissue (fibrosis) that replace normal skin after injury. Blinking covers the eye with a thin layer of tear fluid, thereby promoting a moist environment necessary for the cells of the exterior part of the eye. The tears also flush out foreign bodies and wash them away. This is crucial to maintain lubrication and proper eye health. If this process is impaired, as in lagophthalmos, the eye can suffer abrasions and infections. Lagophthalmos leads to corneal drying and ulceration. This diagnosis is of the lower eyelid. |
MONDO:0001623 |
| MONDO:0973727 |
juvenile dermatomyositis with cutaneous vasculitis |
icd11.foundation:2093991234 |
MONDO:equivalentTo |
Juvenile dermatomyositis with cutaneous vasculitis |
Juvenile dermatomyositis with cutaneous vasculitis is an early-onset form of dermatomyositis, characterised by proximal muscle weakness, evocative skin lesion, and systemic manifestations, along with cutaneous vasculitis and ulcerations |
MONDO:0008054 |
| MONDO:0973728 |
osteochondritis of tarsal or metatarsal bone |
icd11.foundation:2094373978 |
MONDO:equivalentTo |
Osteochondritis of tarsal or metatarsal bone |
Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterised by generally self-limiting bone lesions that may cause pain and swelling often localised at the tarsal navicular bone |
MONDO:0018381 |
| MONDO:0973729 |
acute noninfectious bronchitis |
icd11.foundation:209542282 |
MONDO:equivalentTo |
Acute noninfectious bronchitis |
|
MONDO:0003781 |
| MONDO:0973730 |
profound prosopagnosia |
icd11.foundation:2095646383 |
MONDO:equivalentTo |
Profound Prosopagnosia |
|
MONDO:0003227 |
| MONDO:0973731 |
fetal fat cell lipoma of unspecified site |
icd11.foundation:2095991738 |
MONDO:equivalentTo |
Fetal fat cell lipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0973732 |
generalised pseudohypoaldosteronism type 1 |
icd11.foundation:2096118492 |
MONDO:equivalentTo |
Generalised pseudohypoaldosteronism type 1 |
generalised pseudohypoaldosteronism type 1 is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs. generalised PHA1 is characterised by salt wasting from the kidney, colon, and sweat and salivary glands. |
MONDO:0019161 |
| MONDO:0973733 |
localised vitiligo |
icd11.foundation:2096158414 |
MONDO:equivalentTo |
Localised vitiligo |
Vitiligo confined to one body area. |
MONDO:0008661 |
| MONDO:0973734 |
anterior uveitis associated with systemic conditions |
icd11.foundation:2096289196 |
MONDO:equivalentTo |
Anterior uveitis associated with systemic conditions |
|
MONDO:0006651 |
| MONDO:0973735 |
idiopathic eosinophilic pneumonitis |
icd11.foundation:2097276976 |
MONDO:equivalentTo |
Idiopathic eosinophilic pneumonitis |
This is an idiopathic disease in which a certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. |
MONDO:0004802 |
| MONDO:0973736 |
acute ulcerative tonsillitis |
icd11.foundation:2097987918 |
MONDO:equivalentTo |
Acute ulcerative tonsillitis |
|
MONDO:0020686 |
| MONDO:0973737 |
autosomal dominant hypophosphataemic rickets |
icd11.foundation:2098026628 |
MONDO:equivalentTo |
Autosomal dominant hypophosphataemic rickets |
Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterised by hypophosphatemia, rickets and/or osteomalacia. |
MONDO:0000044 |
| MONDO:0973738 |
acute paralytic poliomyelitis, not elsewhere classified |
icd11.foundation:2098055972 |
MONDO:equivalentTo |
Acute paralytic poliomyelitis, not elsewhere classified |
|
MONDO:0017373 |
| MONDO:0973739 |
acute retinal necrosis |
icd11.foundation:2098607034 |
MONDO:equivalentTo |
Acute retinal necrosis |
|
MONDO:0017209 |
| MONDO:0973740 |
infectious duodenal ulcer |
icd11.foundation:2099564025 |
MONDO:equivalentTo |
Infectious duodenal ulcer |
|
MONDO:0005412 |
| MONDO:0973741 |
acute benign gastric ulcer |
icd11.foundation:2100064846 |
MONDO:equivalentTo |
Acute benign gastric ulcer |
|
MONDO:0001126 |
| MONDO:0973742 |
familial renal amyloidosis |
icd11.foundation:2100467097 |
MONDO:equivalentTo |
Familial renal amyloidosis |
This is a form of amyloidosis primarily presenting in the kidney. It is associated with fibrinogen alpha chain, apolipoprotein A1, and lysozyme. |
MONDO:0018634 |
| MONDO:0973743 |
panniculitis, unspecified, pelvic region or thigh |
icd11.foundation:2100525276 |
MONDO:equivalentTo |
Panniculitis, unspecified, pelvic region or thigh |
|
MONDO:0006591 |
| MONDO:0973744 |
generalised inflammatory peeling skin syndrome |
icd11.foundation:2101227193 |
MONDO:equivalentTo |
Generalised inflammatory peeling skin syndrome |
|
MONDO:0019347 |
| MONDO:0973745 |
inflammatory abdominal aortic aneurysm |
icd11.foundation:2101234748 |
MONDO:equivalentTo |
Inflammatory abdominal aortic aneurysm |
This is inflammatory abdominal swelling (dilation or aneurysm) of the aorta to greater than 1.5 times normal, usually representing an underlying weakness in the wall of the aorta at that location. |
MONDO:0005350 |
| MONDO:0973746 |
drug-induced osteoporosis, upper arm |
icd11.foundation:2101346083 |
MONDO:equivalentTo |
Drug-induced osteoporosis, upper arm |
|
MONDO:0024650 |
| MONDO:0973747 |
non-communicating hydrocephalus |
icd11.foundation:210183601 |
MONDO:equivalentTo |
Non-communicating hydrocephalus |
It represents a form of hydrocephalus where there is an excessive accumulation of CSF within the ventricles caused by blockage of its pathway and due to several causes. |
MONDO:0001150 |
| MONDO:0973748 |
limb-girdle muscular dystrophy 1f, gene mapped to 7q32.1-32.2 |
icd11.foundation:2102590721 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 1F, gene mapped to 7q32.1-32.2 |
Limb girdle muscular dystrophy, type 1F (LGMD1F) is an autosomal dominant form of LGMD, a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved, and is characterised by weakness of the pelvic and shoulder muscles |
MONDO:0015151 |
| MONDO:0973749 |
diurnal enuresis |
icd11.foundation:210284268 |
MONDO:equivalentTo |
Diurnal enuresis |
Diurnal enuresis refers to repeated voiding of urine into clothes that occurs only during waking hours in an individual who has reached a developmental age when urinary continence is ordinarily expected (5 years). The urinary incontinence may have been present from birth (i.e., an atypical extension of normal infantile incontinence), or may have arisen following a period of acquired bladder control. In most cases, the behaviour is involuntary but in some cases it appears intentional. |
MONDO:0024290 |
| MONDO:0973750 |
arthrogryposis multiplex congenita with whistling face |
icd11.foundation:210291070 |
MONDO:equivalentTo |
Arthrogryposis multiplex congenita with whistling face |
Arthrogryposis multiplex congenita with whistling face is an extremely rare disorder characterised in newborns by arthrogryposis multiplex congenita with scarce face expressions (whistling face), severe developmental delay, and central nervous system and autonomous nervous system dysfunction (excessive salivation, temperature instability, apnoea, myoclonic epileptic fits and bradycardia). |
MONDO:0015168 |
| MONDO:0973751 |
alternating exotropia with other noncomitancies |
icd11.foundation:210296444 |
MONDO:equivalentTo |
Alternating exotropia with other noncomitancies |
Alternating exotropia with other noncomitancies is an abnormal binocular alignment in which one of the eyes alternately has an outward deviation. The additional descriptive feature of noncomitancies is specified in which the size of the outward misalignment varies depending on the direction of gaze. |
MONDO:0001286 |
| MONDO:0973752 |
anomaly of tracheal cartilage |
icd11.foundation:2103116043 |
MONDO:equivalentTo |
Anomaly of tracheal cartilage |
This refers to an anomaly of the cartilage in the trachea, which varies from sixteen to twenty in number. Each forms a semicircular ring of hyaline cartilage, which occupies the anterior two-thirds or so of the circumference of the trachea. The posterior one-third of the trachea is completed by fibrous tissue and smooth muscle fibres. |
MONDO:0015505 |
| MONDO:0973753 |
m5-dlo flippase deficiency |
icd11.foundation:210449818 |
MONDO:equivalentTo |
M5-DLO flippase deficiency |
|
MONDO:0017740 |
| MONDO:0973754 |
pulmonary lymphatic dysplasia syndromes |
icd11.foundation:2105358588 |
MONDO:equivalentTo |
Pulmonary lymphatic dysplasia syndromes |
|
MONDO:0017015 |
| MONDO:0973755 |
total septate uterus |
icd11.foundation:2105450595 |
MONDO:equivalentTo |
Total septate uterus |
This is a form of a congenital malformation (due to a persistence of the midline longitudinal septum) where the uterine cavity is partitioned by the longitudinal septum into two uterine cavities and cervical canals, while the outside of the uterus has a normal typical shape. |
MONDO:0015839 |
| MONDO:0973756 |
mucosal prolapse syndrome |
icd11.foundation:2105576861 |
MONDO:equivalentTo |
Mucosal prolapse syndrome |
|
MONDO:0004754 |
| MONDO:0973757 |
tibial aplasia - ectrodactyly |
icd11.foundation:2105655762 |
MONDO:equivalentTo |
Tibial aplasia - ectrodactyly |
Tibial aplasia-ectrodactyly syndrome is a rare developmental anomaly characterised by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. |
MONDO:0017433 |
| MONDO:0973758 |
perilabyrinthitis |
icd11.foundation:2107168997 |
MONDO:equivalentTo |
Perilabyrinthitis |
|
MONDO:0002008 |
| MONDO:0973759 |
acute hepatic encephalopathy |
icd11.foundation:210843292 |
MONDO:equivalentTo |
Acute hepatic encephalopathy |
|
MONDO:0001711 |
| MONDO:0973760 |
beta thalassaemia minor |
icd11.foundation:2108515676 |
MONDO:equivalentTo |
Beta thalassaemia minor |
|
MONDO:0019402 |
| MONDO:0973761 |
pleura retraction |
icd11.foundation:210861104 |
MONDO:equivalentTo |
Pleura retraction |
|
MONDO:0000986 |
| MONDO:0973762 |
pachydermoperiostosis |
icd11.foundation:2108615601 |
MONDO:equivalentTo |
Pachydermoperiostosis |
Pachydermoperiostosis is a form of primary hypertrophic osteoarthropathy characterised by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. It is more prevalent in males and is usually first evident during adolescence. It is associated with mutations in the HPGD gene. |
MONDO:0016620 |
| MONDO:0973763 |
increased cerebrospinal fluid production |
icd11.foundation:2109061166 |
MONDO:equivalentTo |
Increased cerebrospinal fluid production |
Is a type of communicating hydrocephalus caused by increased CSF production. |
MONDO:0002045 |
| MONDO:0973764 |
congenital orbital cyst |
icd11.foundation:2109364207 |
MONDO:equivalentTo |
Congenital orbital cyst |
#DRAFT# This is a congenital closed sac, having a distinct membrane and division compared to the nearby tissue. It may contain air, fluids, or semi-solid material. This diagnosis is of the cavity or socket of the skull in which the eye and its appendages are situated. |
MONDO:0001915 |
| MONDO:0973765 |
hyperlipidaemia due to cubilin deficiency |
icd11.foundation:2109673132 |
MONDO:equivalentTo |
Hyperlipidaemia due to cubilin deficiency |
This involves abnormally elevated levels of any or all lipids and/or lipoproteins in the blood. This diagnosis is due to cubilin deficiency. |
MONDO:0015903 |
| MONDO:0973766 |
solitary bone cyst, neck |
icd11.foundation:2112287583 |
MONDO:equivalentTo |
Solitary bone cyst, neck |
|
MONDO:0019372 |
| MONDO:0973767 |
primary immunodeficiency with skin granulomas |
icd11.foundation:2112805091 |
MONDO:equivalentTo |
Primary immunodeficiency with skin granulomas |
These are disorders in which part of the body's immune system is missing or does not function properly. This diagnosis is with skin granulomas. |
MONDO:0015131 |
| MONDO:0973768 |
chondromalacia, head |
icd11.foundation:2113444776 |
MONDO:equivalentTo |
Chondromalacia, head |
|
MONDO:0002342 |
| MONDO:0973769 |
acute nephrosis syndrome |
icd11.foundation:2114416652 |
MONDO:equivalentTo |
Acute nephrosis syndrome |
|
MONDO:0005377 |
| MONDO:0973770 |
syringotropic mycosis fungoides |
icd11.foundation:2114605382 |
MONDO:equivalentTo |
Syringotropic mycosis fungoides |
A rare variant of mycosis fungoides characterised by prominent involvement of the eccrine glands with syringometaplasia. |
MONDO:0015821 |
| MONDO:0973771 |
parkinsonism hyperpyrexia syndrome |
icd11.foundation:211461908 |
MONDO:equivalentTo |
Parkinsonism Hyperpyrexia Syndrome |
The parkinsonism-hyperpyrexia syndrome (PHS) is a rare but potentially fatal complication seen in Parkinson's disease patients, most commonly following abrupt reduction or cessation of antiparkinson medications. Clinically it resembles neuroleptic malignant syndrome with: rigidity, pyrexia, reduced consciousness level, autonomic instability, and serum creatine kinase elevation. |
MONDO:0019790 |
| MONDO:0973772 |
triphalangeal thumbs - brachyectrodactyly |
icd11.foundation:211583723 |
MONDO:equivalentTo |
Triphalangeal thumbs - brachyectrodactyly |
Triphalangeal thumbs - brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. |
MONDO:0017434 |
| MONDO:0973773 |
encephalocele |
icd11.foundation:2115894108 |
MONDO:equivalentTo |
Encephalocele |
|
MONDO:0017078 |
| MONDO:0973774 |
breast hyperplasia |
icd11.foundation:2116110359 |
MONDO:equivalentTo |
Breast hyperplasia |
|
MONDO:0001100 |
| MONDO:0973775 |
chondrocalcinosis, vertebral column |
icd11.foundation:2116428448 |
MONDO:equivalentTo |
Chondrocalcinosis, vertebral column |
|
MONDO:0001314 |
| MONDO:0973776 |
chronic urticaria of undetermined aetiology |
icd11.foundation:2116519646 |
MONDO:equivalentTo |
Chronic urticaria of undetermined aetiology |
Chronic urticaria for which no cause can be found (idiopathic) |
MONDO:0850230 |
| MONDO:0973777 |
aneurysmal bone cyst, skull |
icd11.foundation:2116532304 |
MONDO:equivalentTo |
Aneurysmal bone cyst, skull |
|
MONDO:0018815 |
| MONDO:0973778 |
stenosing cholangitis |
icd11.foundation:2116724673 |
MONDO:equivalentTo |
Stenosing cholangitis |
|
MONDO:0004789 |
| MONDO:0973779 |
bursitis with unknown aetiology, pelvic region or thigh |
icd11.foundation:2116961429 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, pelvic region or thigh |
|
MONDO:0002471 |
| MONDO:0973780 |
total anomalous pulmonary venous connection of the cardiac type |
icd11.foundation:2117777772 |
MONDO:equivalentTo |
Total anomalous pulmonary venous connection of the cardiac type |
A congenital cardiovascular malformation with total anomalous pulmonary venous connection to the right atrium directly or to the coronary sinus or to both. |
MONDO:0007130 |
| MONDO:0973781 |
congenital coronary arterial orifice atresia |
icd11.foundation:2118151636 |
MONDO:equivalentTo |
Congenital coronary arterial orifice atresia |
A congenital cardiovascular malformation in which the orifice of a coronary artery is not patent. |
MONDO:0015203 |
| MONDO:0973782 |
ataxia due to other immune-mediated problems |
icd11.foundation:2118220637 |
MONDO:equivalentTo |
Ataxia due to other immune-mediated problems |
|
MONDO:0016593 |
| MONDO:0973783 |
black hairy tongue |
icd11.foundation:2118237401 |
MONDO:equivalentTo |
Black hairy tongue |
|
MONDO:0001689 |
| MONDO:0973784 |
sarcoepiplomphalocele |
icd11.foundation:2118855685 |
MONDO:equivalentTo |
Sarcoepiplomphalocele |
|
MONDO:0019015 |
| MONDO:0973785 |
choledochitis |
icd11.foundation:2119262451 |
MONDO:equivalentTo |
Choledochitis |
|
MONDO:0004789 |
| MONDO:0973786 |
acquired atresia of vagina |
icd11.foundation:2119411446 |
MONDO:equivalentTo |
Acquired atresia of vagina |
|
MONDO:0019007 |
| MONDO:0973787 |
osteoporosis of malnutrition |
icd11.foundation:2119740801 |
MONDO:equivalentTo |
Osteoporosis of malnutrition |
|
MONDO:0005298 |
| MONDO:0973788 |
congenital knee dislocation, unilateral |
icd11.foundation:2120173939 |
MONDO:equivalentTo |
Congenital knee dislocation, unilateral |
|
MONDO:0017470 |
| MONDO:0973789 |
tracheobronchomegaly |
icd11.foundation:2120724910 |
MONDO:equivalentTo |
Tracheobronchomegaly |
Tracheobronchomegaly is a disorder of unknown cause defined by dilatation of trachea and large bronchi presenting in adults. |
MONDO:0021925 |
| MONDO:0973790 |
cardiopulmonary arrest |
icd11.foundation:2121132007 |
MONDO:equivalentTo |
Cardiopulmonary arrest |
|
MONDO:0000745 |
| MONDO:0973791 |
micturition-induced epilepsy |
icd11.foundation:2121478392 |
MONDO:equivalentTo |
Micturition-induced epilepsy |
|
MONDO:0017768 |
| MONDO:0973792 |
varices of uterine ligament |
icd11.foundation:2121873491 |
MONDO:equivalentTo |
Varices of uterine ligament |
|
MONDO:0004869 |
| MONDO:0973793 |
hypoplastic amelogenesis imperfecta |
icd11.foundation:2122401030 |
MONDO:equivalentTo |
Hypoplastic amelogenesis imperfecta |
|
MONDO:0019507 |
| MONDO:0973794 |
chronic obstructive pulmonary disease, unspecified, moderate airflow limitation |
icd11.foundation:2122418153 |
MONDO:equivalentTo |
Chronic obstructive pulmonary disease, unspecified, moderate airflow limitation |
Chronic obstructive pulmonary disease (COPD), unspecified, with moderate airflow limitation, 50% equal to or less than FEV1 less than 80% predicted (post bronchodilator FEV1). |
MONDO:0005002 |
| MONDO:0973795 |
circulus senilis |
icd11.foundation:2122729784 |
MONDO:equivalentTo |
Circulus senilis |
|
MONDO:0001515 |
| MONDO:0973796 |
heart tumour of the child |
icd11.foundation:2122837474 |
MONDO:equivalentTo |
Heart tumour of the child |
Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. |
MONDO:0021450 |
| MONDO:0973797 |
dermatopathic lymphadenopathy |
icd11.foundation:2123176059 |
MONDO:equivalentTo |
Dermatopathic lymphadenopathy |
|
MONDO:0002052 |
| MONDO:0973798 |
tuberculosis of mediastinum |
icd11.foundation:212356455 |
MONDO:equivalentTo |
Tuberculosis of mediastinum |
|
MONDO:0957462 |
| MONDO:0973799 |
urogenital trichomoniasis |
icd11.foundation:2123805311 |
MONDO:equivalentTo |
Urogenital trichomoniasis |
A disease of the urogenital tract, caused by an infection with the protozoan parasite Trichomonas vaginalis. In females, this disease is characterised by itching, burning, redness of the genitals, discomfort with urination, or a thin discharge that is clear, yellowish, or greenish; in males, this disease is characterised by itching or irritation inside the penis, burning after urination or ejaculation, or discharge from the penis. Transmission is by sexual contact. Confirmation is by identification of Trichomonas vaginalis in a vaginal or urethral fluid sample. |
MONDO:0002154 |
| MONDO:0973800 |
vasopressin-resistant hyposthenuria |
icd11.foundation:2123910581 |
MONDO:equivalentTo |
Vasopressin-resistant hyposthenuria |
|
MONDO:0016383 |
| MONDO:0973801 |
deletions of chromosome 19 |
icd11.foundation:2124074548 |
MONDO:equivalentTo |
Deletions of chromosome 19 |
|
MONDO:0020054 |
| MONDO:0973802 |
varices of broad ligament |
icd11.foundation:2124202179 |
MONDO:equivalentTo |
Varices of broad ligament |
|
MONDO:0004869 |
| MONDO:0973803 |
limb-girdle muscular dystrophy 1g, gene mapped to 4q21 |
icd11.foundation:2125034091 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 1G, gene mapped to 4q21 |
Limb girdle muscular dystrophy, type 1G (LGMD1G) is characterised by limb girdle distributed weakness in combination with progressive finger and toe flexion limitation. |
MONDO:0015151 |
| MONDO:0973804 |
oculo-osteo-cutaneous syndrome |
icd11.foundation:2125266189 |
MONDO:equivalentTo |
Oculo-osteo-cutaneous syndrome |
Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. |
MONDO:0019287 |
| MONDO:0973805 |
benign neoplasm of commissure of lip |
icd11.foundation:2125349898 |
MONDO:equivalentTo |
Benign neoplasm of commissure of lip |
|
MONDO:0021496 |
| MONDO:0973806 |
melanotic neurofibroma of unspecified site |
icd11.foundation:2126184173 |
MONDO:equivalentTo |
Melanotic neurofibroma of unspecified site |
|
MONDO:0016755 |
| MONDO:0973807 |
suppuration of accessory sinus |
icd11.foundation:2126196456 |
MONDO:equivalentTo |
Suppuration of accessory sinus |
|
MONDO:0006031 |
| MONDO:0973808 |
myeloid sarcoma in complete remission |
icd11.foundation:2126244336 |
MONDO:equivalentTo |
Myeloid sarcoma in complete remission |
|
MONDO:0006861 |
| MONDO:0973809 |
postmenopausal osteoporosis, ribs |
icd11.foundation:2126633006 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, ribs |
|
MONDO:0008159 |
| MONDO:0973810 |
duodenitis of unknown aetiology with specific endoscopic or pathologic features |
icd11.foundation:2126817470 |
MONDO:equivalentTo |
Duodenitis of unknown aetiology with specific endoscopic or pathologic features |
Duodenitis of unknown etiology showing specific endoscopic or pathological findings, including acute haemorrhagic duodenitis and Granulomatous duodenitis. |
MONDO:0004627 |
| MONDO:0973811 |
chronic abscess of nasal sinus |
icd11.foundation:212783184 |
MONDO:equivalentTo |
Chronic abscess of nasal sinus |
|
MONDO:0006031 |
| MONDO:0973812 |
beta-1,4-galactosyltransferase deficiency |
icd11.foundation:2127970541 |
MONDO:equivalentTo |
Beta-1,4-galactosyltransferase deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IId is characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. |
MONDO:0017749 |
| MONDO:0973813 |
asthenic personality disorder |
icd11.foundation:2128056978 |
MONDO:equivalentTo |
Asthenic personality disorder |
|
MONDO:0001157 |
| MONDO:0973814 |
immunodeficiency with mbl - [mannan-binding lectin] deficiency |
icd11.foundation:2128314895 |
MONDO:equivalentTo |
Immunodeficiency with MBL - [mannan-binding lectin] deficiency |
This is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with MBL deficiency. |
MONDO:0015136 |
| MONDO:0973815 |
fructose-1,6-diphosphatase deficiency |
icd11.foundation:2128680017 |
MONDO:equivalentTo |
Fructose-1,6-diphosphatase deficiency |
Fructose 1,6 diphosphatase deficiency is an autosomal recessive disorder of neoglucogenesis. It is characterised by recurrent, and sometimes life-threatening, episodes of fasting hypoglycaemia with lactic acidosis. Patients are asymptomatic between episodes or after ingestion of fructose. Treatment is based on frequent feeding for infants and young children with a diet enriched with glucose or maltodextrin and limited in fructose. |
MONDO:0017689 |
| MONDO:0973816 |
mucopolysaccharidosis type 1s |
icd11.foundation:2128730057 |
MONDO:equivalentTo |
Mucopolysaccharidosis type 1S |
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterised by skeletal deformities and a delay in motor development. The disease commonly manifests after the age of 5 years but are so mild that diagnosis is often not considered until adulthood. |
MONDO:0001586 |
| MONDO:0973817 |
acromesomelic dysplasia, grebe type |
icd11.foundation:2128783945 |
MONDO:equivalentTo |
Acromesomelic dysplasia, Grebe type |
Acromesomelic dysplasia Grebe type is a rare autosomal recessive disorder belonging to the group of osteochondrodysplasias. AMDG is characterised 1) clinically, by severe dwarfism with marked micromelia and deformation of upper and lower limbs, with a proximo distal gradient of severity, and 2) radiologically, by short and deformed middle long bones, fusion of carpal and tarsal bones, absence of proximal and middle phalanges and several metacarpal and metatarsal bones. The facial appearance and intelligence are normal, and there are no vertebral abnormalities. |
MONDO:0019696 |
| MONDO:0973818 |
absent thumb - short stature - immune deficiency |
icd11.foundation:2129443636 |
MONDO:equivalentTo |
Absent thumb - short stature - immune deficiency |
Absent thumb - short stature - immunodeficiency syndrome is characterised by thumb aplasia, short stature with skeletal abnormalities, and severe combined immunodeficiency. |
MONDO:0015131 |
| MONDO:0973819 |
immature or malignant embryonal teratoma of ovary |
icd11.foundation:2129632979 |
MONDO:equivalentTo |
Immature or malignant embryonal teratoma of ovary |
|
MONDO:0018369 |
| MONDO:0973820 |
anomaly of fovea centralis |
icd11.foundation:2129803207 |
MONDO:equivalentTo |
Anomaly of fovea centralis |
|
MONDO:0020247 |
| MONDO:0973821 |
primary familial polycythaemia due to other mutations |
icd11.foundation:2130706290 |
MONDO:equivalentTo |
Primary familial polycythaemia due to other mutations |
|
MONDO:0007572 |
| MONDO:0973822 |
rubella arthritis |
icd11.foundation:2131502234 |
MONDO:equivalentTo |
Rubella arthritis |
A disease of the joints, caused by an infection with the rubella virus. This disease is characterised by inflammation of the joints leading to arthralgia or difficulties moving the joints. Transmission is by inhalation of infected respiratory secretions, or direct contact. Confirmation is by identification of rubella virus (in nasal or throat swab samples, blood, urine, or cerebrospinal fluid), or detection of rubella virus specific IgM antibodies. |
MONDO:0004656 |
| MONDO:0973823 |
pollen allergy with asthma |
icd11.foundation:2131616109 |
MONDO:equivalentTo |
Pollen allergy with asthma |
|
MONDO:0004784 |
| MONDO:0973824 |
mechanical strabismus from orbital pulley disorder |
icd11.foundation:2132280604 |
MONDO:equivalentTo |
Mechanical strabismus from orbital pulley disorder |
|
MONDO:0004753 |
| MONDO:0973825 |
congenital eyelid retraction, bilateral |
icd11.foundation:2132285906 |
MONDO:equivalentTo |
Congenital eyelid retraction, bilateral |
|
MONDO:0020465 |
| MONDO:0973826 |
nonclassical phenylketonuria |
icd11.foundation:2132400826 |
MONDO:equivalentTo |
Nonclassical phenylketonuria |
Mild phenylketonuria is a rare form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterised by symptoms of PKU of mild to moderate severity. |
MONDO:0009861 |
| MONDO:0973827 |
other late congenital syphilis, symptomatic |
icd11.foundation:2132718683 |
MONDO:equivalentTo |
Other late congenital syphilis, symptomatic |
|
MONDO:0005821 |
| MONDO:0973828 |
autosomal dominant multiple pterygium syndrome |
icd11.foundation:2133217461 |
MONDO:equivalentTo |
Autosomal dominant multiple pterygium syndrome |
|
MONDO:0017415 |
| MONDO:0973829 |
giant cell arteritis without polymyalgia rheumatica |
icd11.foundation:2133377198 |
MONDO:equivalentTo |
Giant cell arteritis without polymyalgia rheumatica |
|
MONDO:0008538 |
| MONDO:0973830 |
juvenile dermatomyositis with lipodystrophy |
icd11.foundation:2133970870 |
MONDO:equivalentTo |
Juvenile dermatomyositis with lipodystrophy |
Juvenile dermatomyositis with lipodystrophy is a chronic systemic autoimmune disease characterised by early-onset proximal weakness and characteristic skin rashes, associated with loss of subcutaneous fat in a localised or generalised distribution, frequently with resultant metabolic abnormalities such as insulin resistance, diabetes and hyperlipidaemia. These patients have a loss of mature, functional adipocytes, as opposed to an absence of lipid in otherwise normal adipocytes. |
MONDO:0008054 |
| MONDO:0973831 |
cardiophobia |
icd11.foundation:2134296136 |
MONDO:equivalentTo |
Cardiophobia |
|
MONDO:0001596 |
| MONDO:0973832 |
congenital finnish nephrosis |
icd11.foundation:2134488194 |
MONDO:equivalentTo |
Congenital Finnish nephrosis |
|
MONDO:0005377 |
| MONDO:0973833 |
incyclotropia |
icd11.foundation:2134809621 |
MONDO:equivalentTo |
Incyclotropia |
|
MONDO:0004894 |
| MONDO:0973834 |
haemolytic anaemia due to glutathione synthetase deficiency |
icd11.foundation:2135206332 |
MONDO:equivalentTo |
Haemolytic anaemia due to glutathione synthetase deficiency |
Glutathione synthetase deficiency is an inborn error of glutathione metabolism characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. |
MONDO:0019241 |
| MONDO:0973835 |
episodic ataxia type 1 - kcna1 mutation |
icd11.foundation:2135559917 |
MONDO:equivalentTo |
Episodic ataxia type 1 - KCNA1 mutation |
Episodic ataxia type 1 is a frequent form of hereditary episodic ataxia, characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. It sometimes responds to acetazolamide. |
MONDO:0016227 |
| MONDO:0973836 |
erythema nodosum triggered by pregnancy |
icd11.foundation:213624326 |
MONDO:equivalentTo |
Erythema nodosum triggered by pregnancy |
Erythema nodosum (EN) occurring during pregnancy, which accounts for some 2% of all cases of EN. The mechanisms involved are unknown, though hormonal factors are likely to be relevant as EN is also linked to oral contraceptive use. The EN may be recurrent with each pregnancy. |
MONDO:0850231 |
| MONDO:0973837 |
unspecified frostbite of head |
icd11.foundation:2136455554 |
MONDO:equivalentTo |
Unspecified frostbite of head |
|
MONDO:0800177 |
| MONDO:0973838 |
intrasellar cyst |
icd11.foundation:2136607952 |
MONDO:equivalentTo |
Intrasellar cyst |
|
MONDO:0015127 |
| MONDO:0973839 |
acute chagas disease with heart involvement |
icd11.foundation:2136735188 |
MONDO:equivalentTo |
Acute Chagas disease with heart involvement |
A disease caused by an acute infection with the protozoan parasite Trypanosoma cruzi. This disease is characterised by fever, headache, lymphadenopathy, pallor, muscle pain, dyspnoea, swelling, or abdominal or chest pain. This disease also presents with cardiac involvement (such as cardiomyopathy, heart disease or myocarditis). Transmission is by direct contact with faeces from an infected triatomine bug, vertical transmission, iatrogenic transmission, or ingestion of contaminated food or water. Confirmation is by identification of Trypanosoma cruzi in a blood sample. |
MONDO:0001444 |
| MONDO:0973840 |
obstructive uropathy with infection |
icd11.foundation:213679808 |
MONDO:equivalentTo |
Obstructive uropathy with infection |
|
MONDO:0021750 |
| MONDO:0973841 |
herpesviral meningoencephalitis |
icd11.foundation:2137108193 |
MONDO:equivalentTo |
Herpesviral meningoencephalitis |
|
MONDO:0012521 |
| MONDO:0973842 |
diffuse poorly differentiated lymphocytic malignant lymphoma |
icd11.foundation:2137149005 |
MONDO:equivalentTo |
Diffuse poorly differentiated lymphocytic malignant lymphoma |
|
MONDO:0018876 |
| MONDO:0973843 |
congenital central hypothyroidism due to thyrotropin-releasing hormone deficiency |
icd11.foundation:2137251970 |
MONDO:equivalentTo |
Congenital central hypothyroidism due to thyrotropin-releasing hormone deficiency |
This refers to a congenital central state in which the thyroid gland does not make enough thyroid hormone. This diagnosis is due to thyrotropin-releasing hormone deficiency. |
MONDO:0016410 |
| MONDO:0973844 |
cornea plana, unilateral |
icd11.foundation:2137695959 |
MONDO:equivalentTo |
Cornea plana, unilateral |
|
MONDO:0000733 |
| MONDO:0973845 |
pyuria associated cause classified elsewhere |
icd11.foundation:2138177119 |
MONDO:equivalentTo |
Pyuria associated cause classified elsewhere |
|
MONDO:0001953 |
| MONDO:0973846 |
familial hypoalphalipoproteinaemia |
icd11.foundation:2138350178 |
MONDO:equivalentTo |
Familial hypoalphalipoproteinaemia |
|
MONDO:0017773 |
| MONDO:0973847 |
long qt syndrome, type 13 |
icd11.foundation:2138516201 |
MONDO:equivalentTo |
Long QT syndrome, type 13 |
Genetically proven Long QT syndrome type 13 (GIRK4), with or without clinical manifestations |
MONDO:0019171 |
|
|
|
|
|
(CV WG) |
|
| MONDO:0973848 |
chronic central serous chorioretinopathy |
icd11.foundation:2138832129 |
MONDO:equivalentTo |
Chronic Central Serous Chorioretinopathy |
This is a chronic eye disease which causes visual impairment, often temporary, usually in one eye. When the disorder is active it is characterised by leakage of fluid under the retina that has a propensity to accumulate under the central macula. This results in blurred or distorted vision (metamorphopsia). A blurred or grey spot in the central visual field is common when the retina is detached. Reduced visual acuity may persist after the fluid has disappeared. |
MONDO:0018616 |
| MONDO:0973849 |
unspecified asthma |
icd11.foundation:2138913203 |
MONDO:equivalentTo |
Unspecified asthma |
|
MONDO:0004979 |
| MONDO:0973850 |
juvenile psoriatic arthritis, head |
icd11.foundation:2139726715 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, head |
|
MONDO:0019436 |
| MONDO:0973851 |
autosomal dominant osteopetrosis type 2 |
icd11.foundation:2139982581 |
MONDO:equivalentTo |
Autosomal dominant osteopetrosis type 2 |
Albers-Schnberg osteopetrosis is a sclerosing disorder of the skeleton characterised by increased bone density that classically displays the radiographic sign of ``sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). |
MONDO:0017198 |
| MONDO:0973852 |
adrenal histoplasmosis |
icd11.foundation:214141817 |
MONDO:equivalentTo |
Adrenal histoplasmosis |
An uncommon form of infection by Histoplasma capsulatum which may result in adrenal insufficiency and which presents typically as chronic fatigue in immunocompetent adults. Imaging typically shows bilateral enlargement of the adrenal glands. |
MONDO:0018312 |
| MONDO:0973853 |
mucinous papillary cystadenoma, borderline malignancy, unspecified site |
icd11.foundation:2141700511 |
MONDO:equivalentTo |
Mucinous papillary cystadenoma, borderline malignancy, unspecified site |
|
MONDO:0008170 |
| MONDO:0973854 |
diffuse subretinal fibrosis |
icd11.foundation:2141829518 |
MONDO:equivalentTo |
Diffuse Subretinal Fibrosis |
|
MONDO:0019541 |
| MONDO:0973855 |
chronic bacterial endocarditis |
icd11.foundation:2141866691 |
MONDO:equivalentTo |
Chronic bacterial endocarditis |
|
MONDO:0006669 |
| MONDO:0973856 |
tricho-odonto-onychial dysplasia with bone deficiency in fronto-parietal region |
icd11.foundation:2142042007 |
MONDO:equivalentTo |
Tricho-odonto-onychial dysplasia with bone deficiency in fronto-parietal region |
|
MONDO:0019287 |
| MONDO:0973857 |
partial cryptophthalmia, bilateral |
icd11.foundation:2142140872 |
MONDO:equivalentTo |
Partial cryptophthalmia, bilateral |
|
MONDO:0020361 |
| MONDO:0973858 |
systemic atrophy primarily affecting central nervous system |
icd11.foundation:2143208721 |
MONDO:equivalentTo |
Systemic atrophy primarily affecting central nervous system |
|
MONDO:0007803 |
| MONDO:0973859 |
optical alexia |
icd11.foundation:214342970 |
MONDO:equivalentTo |
Optical alexia |
|
MONDO:0001712 |
| MONDO:0973860 |
extradural brain abscess |
icd11.foundation:2143605582 |
MONDO:equivalentTo |
Extradural brain abscess |
|
MONDO:0000939 |
| MONDO:0973861 |
acne scarring |
icd11.foundation:2143641220 |
MONDO:equivalentTo |
Acne scarring |
Scarring resulting from acne, ranging from mild irregularity of the skin surface to highly disfiguring or functionally disabling distortion of normal skin anatomy. |
MONDO:0011438 |
| MONDO:0973862 |
20p12.3 deletion |
icd11.foundation:2144485162 |
MONDO:equivalentTo |
20p12.3 deletion |
20p12.3 microdeletion syndrome is a chromosomal anomaly characterised by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. |
MONDO:0016898 |
| MONDO:0973863 |
separation anxiety disorder of childhood |
icd11.foundation:2144550616 |
MONDO:equivalentTo |
Separation anxiety disorder of childhood |
|
MONDO:0001098 |
| MONDO:0973864 |
stress ulcer of duodenum |
icd11.foundation:2144907019 |
MONDO:equivalentTo |
Stress ulcer of duodenum |
Stress ulcers of duodenum are acute mucosal lesions occurring in critically ill patients that may result in acute upper gastrointestinal bleeding. They are usually superficial erosions but can develop into ulcers. |
MONDO:0005412 |
| MONDO:0973865 |
limb-girdle muscular dystrophy 1d, gene mapped to 6q23 |
icd11.foundation:2145132790 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 1D, gene mapped to 6q23 |
Limb girdle muscular dystrophy, type1E (LGMD1E) belongs to a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved, and is characterised by onset in late adulthood, possible dysphagia and no evident cardiac abnormalities. |
MONDO:0015151 |
| MONDO:0973866 |
acrophobia |
icd11.foundation:2146122658 |
MONDO:equivalentTo |
Acrophobia |
|
MONDO:0012000 |
| MONDO:0973867 |
congenital adrenal hyperplasia due to side-chain cleavage enzyme deficiency |
icd11.foundation:2147137083 |
MONDO:equivalentTo |
Congenital adrenal hyperplasia due to side-chain cleavage enzyme deficiency |
This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to side-chain cleavage enzyme deficiency. |
MONDO:0018479 |
| MONDO:0973868 |
subacute pleurisy |
icd11.foundation:215168210 |
MONDO:equivalentTo |
Subacute pleurisy |
|
MONDO:0000986 |
| MONDO:0973869 |
psychomotor retardation and myopathy due to s-adenosylhomocysteine hydrolase deficiency |
icd11.foundation:215404985 |
MONDO:equivalentTo |
Psychomotor retardation and myopathy due to S-adenosylhomocysteine hydrolase deficiency |
This syndrome is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels. It has been described in three unrelated patients. Transmission appears to be autosomal recessive. Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY), an enzyme involved in methionine metabolism. A methionine-restricted diet, together with creatine supplements, may partly improve the delayed myelination and psychomotor development. |
MONDO:0019222 |
| MONDO:0973870 |
chronic urticaria due to underlying infection or infestation |
icd11.foundation:215528867 |
MONDO:equivalentTo |
Chronic urticaria due to underlying infection or infestation |
Chronic urticaria provoked by an identifiable infection or infestation. The triggers may be bacteria, viruses or parasites. |
MONDO:0850230 |
| MONDO:0973871 |
schistosomal encephalomyelitis |
icd11.foundation:215633650 |
MONDO:equivalentTo |
Schistosomal encephalomyelitis |
|
MONDO:0005874 |
| MONDO:0973872 |
ganglioneuroma of brain |
icd11.foundation:215959075 |
MONDO:equivalentTo |
Ganglioneuroma of brain |
|
MONDO:0016729 |
| MONDO:0973873 |
trachelitis |
icd11.foundation:216469943 |
MONDO:equivalentTo |
Trachelitis |
|
MONDO:0002345 |
| MONDO:0973874 |
chalazion internum |
icd11.foundation:217389712 |
MONDO:equivalentTo |
Chalazion internum |
|
MONDO:0005844 |
| MONDO:0973875 |
special forms of dermatophytosis |
icd11.foundation:218093853 |
MONDO:equivalentTo |
Special forms of dermatophytosis |
Clinically distinctive forms of dermatophyte infection. |
MONDO:0004678 |
| MONDO:0973876 |
acute or subacute infective endocarditis, left-sided |
icd11.foundation:21844126 |
MONDO:equivalentTo |
Acute or subacute infective endocarditis, left-sided |
|
MONDO:0000565 |
| MONDO:0973877 |
primary congenital glaucoma, bilateral |
icd11.foundation:218940177 |
MONDO:equivalentTo |
Primary congenital glaucoma, bilateral |
|
MONDO:0000365 |
| MONDO:0973878 |
lambdoid synostosis |
icd11.foundation:219964198 |
MONDO:equivalentTo |
Lambdoid synostosis |
|
MONDO:0015469 |
| MONDO:0973879 |
undescended testicle, bilateral |
icd11.foundation:220096588 |
MONDO:equivalentTo |
Undescended testicle, bilateral |
The situation in which both testicles in a male have not transitioned from the abdomen, and therefore appear absent from the scrotum. |
MONDO:0009047 |
| MONDO:0973880 |
defects in o-n-acetylgalactosaminylglycan synthesis |
icd11.foundation:220136774 |
MONDO:equivalentTo |
Defects in O-N-acetylgalactosaminylglycan synthesis |
|
MONDO:0017741 |
| MONDO:0973881 |
lower limb hypertrophy, unilateral |
icd11.foundation:22024203 |
MONDO:equivalentTo |
Lower limb hypertrophy, unilateral |
|
MONDO:0017477 |
| MONDO:0973882 |
mature b-cell leukaemia burkitt-type |
icd11.foundation:220319405 |
MONDO:equivalentTo |
Mature B-cell leukaemia Burkitt-type |
The leukemic counterpart of Burkitt's lymphoma. The characteristic Burkitt cells are seen in the bone marrow and the peripheral blood. This is an aggressive leukaemia. |
MONDO:0007243 |
| MONDO:0973883 |
multi-drug resistant nephrotic syndrome |
icd11.foundation:22053390 |
MONDO:equivalentTo |
Multi-drug resistant nephrotic syndrome |
This diagnosis refers to steroid resistant nephrotic syndrome where other immunosuppressive agents such as calcineurin inhibitors (cyclosporine, tacrolimus), mycophenolate and other immunosuppressive agents have been be trialled but have not resulted in remission. This entity can be due to many genetic, histological or other conditions. |
MONDO:0005377 |
|
|
|
|
|
|
|
|
|
|
|
|
Reference: Nephrology WG |
|
|
|
|
|
|
|
|
|
|
|
|
|
Kidney Disease: Improving Global Outcomes (KDIGO) Glomerulonephritis Work Group. KDIGO Clinical Practice Guideline for Glomerulonephritis. Kidney inter., Suppl. 2012; 2: 139-274. |
|
| MONDO:0973884 |
familial cd8 deficiency |
icd11.foundation:220561401 |
MONDO:equivalentTo |
Familial CD8 deficiency |
This refers to susceptibility to respiratory infections associated with is a transmembrane glycoprotein that serves as a co-receptor for the T cell receptor (TCR). |
MONDO:0015131 |
| MONDO:0973885 |
duodenal ulcer due to external causes |
icd11.foundation:220699766 |
MONDO:equivalentTo |
Duodenal ulcer due to external causes |
Duodenal ulcer caused by external substances, such as alcohol, radiation, chemical agent and by other external causes. |
MONDO:0005412 |
| MONDO:0973886 |
chronic idiopathic pancreatitis |
icd11.foundation:220806888 |
MONDO:equivalentTo |
Chronic idiopathic pancreatitis |
This is an inflammation of the pancreas characterised by recurring or persistent abdominal pain, not associated with known risk factors. |
MONDO:0005003 |
| MONDO:0973887 |
genetic prion disease due to prion gene mutations |
icd11.foundation:221209354 |
MONDO:equivalentTo |
Genetic prion disease due to prion gene mutations |
Genetic prion disease is caused by various mutations of prion protein gene (PRNP) usually with an autosomal dominant mode of inheritance. |
MONDO:0007403 |
| MONDO:0973888 |
pericoronal abscess |
icd11.foundation:221586824 |
MONDO:equivalentTo |
Pericoronal abscess |
|
MONDO:0006899 |
| MONDO:0973889 |
asymptomatic plague |
icd11.foundation:222291588 |
MONDO:equivalentTo |
Asymptomatic plague |
|
MONDO:0019095 |
| MONDO:0973890 |
obstructive bladder anomaly |
icd11.foundation:222603070 |
MONDO:equivalentTo |
Obstructive bladder anomaly |
|
MONDO:0018559 |
| MONDO:0973891 |
benign neoplasm of posterior margin of septum and choanae |
icd11.foundation:222962506 |
MONDO:equivalentTo |
Benign neoplasm of posterior margin of septum and choanae |
|
MONDO:0021478 |
| MONDO:0973892 |
deficiency of cystathionase |
icd11.foundation:223035186 |
MONDO:equivalentTo |
Deficiency of cystathionase |
|
MONDO:0019222 |
| MONDO:0973893 |
benign neoplasm of parietal pleura |
icd11.foundation:224075361 |
MONDO:equivalentTo |
Benign neoplasm of parietal pleura |
|
MONDO:0021457 |
| MONDO:0973894 |
lissencephaly type 1 due to lis1 gene mutation |
icd11.foundation:225516542 |
MONDO:equivalentTo |
Lissencephaly type 1 due to LIS1 gene mutation |
|
MONDO:0015146 |
| MONDO:0973895 |
b lymphoblastic leukaemia or lymphoma with t(v;11q23); mll rearranged |
icd11.foundation:225752797 |
MONDO:equivalentTo |
B lymphoblastic leukaemia or lymphoma with t(v;11q23); MLL rearranged |
A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the MLL gene at 11q23 and another gene partner resulting in the production of an MLL related fusion protein. |
MONDO:0020511 |
| MONDO:0973896 |
medullary sponge kidney, bilateral |
icd11.foundation:225944224 |
MONDO:equivalentTo |
Medullary sponge kidney, bilateral |
A condition characterised by cystic or saccular dilatations of the medullary collecting ducts seen with radiocontrast filling affecting both kidneys. A predisposition to stones and associated often with renal tubular acidosis. There is no clear genetic predisposition. |
MONDO:0015268 |
| MONDO:0973897 |
respiratory distress syndrome of the newborn, altered by maternal corticosteroid therapy |
icd11.foundation:22655611 |
MONDO:equivalentTo |
Respiratory distress syndrome of the newborn, altered by maternal corticosteroid therapy |
|
MONDO:0009971 |
| MONDO:0973898 |
9p duplication |
icd11.foundation:22746166 |
MONDO:equivalentTo |
9p duplication |
|
MONDO:0016526 |
| MONDO:0973899 |
dentine dysplasia type 2 |
icd11.foundation:227906909 |
MONDO:equivalentTo |
Dentine dysplasia type 2 |
In type 2 the pulp chamber of the deciduous teeth become completely obliterated, which the permanent teeth displays large pulp chamber in the coronal portion of the tooth - referred to as thistle tube appearance and pulp stones may be found. |
MONDO:0015613 |
| MONDO:0973900 |
lambert-eaton syndrome, autoimmune-acquired |
icd11.foundation:228088519 |
MONDO:equivalentTo |
Lambert-Eaton syndrome, autoimmune-acquired |
In half of the Lambert-Eaton syndrome patients, no tumour is found. The clinical symptoms are similar to Lambert-Eaton syndrome associated with Small cell lung cancer. Non-tumour Lambert-Eaton syndrome is seen at all ages, with a peak age of onset of around 35 years and a second, larger peak at age 60 years. Life expectancy is normal. |
MONDO:0018556 |
| MONDO:0973901 |
syndactyly of toes |
icd11.foundation:228362353 |
MONDO:equivalentTo |
Syndactyly of toes |
|
MONDO:0019530 |
| MONDO:0973902 |
benign papilloma of renal pelvis |
icd11.foundation:228415058 |
MONDO:equivalentTo |
Benign papilloma of renal pelvis |
|
MONDO:0021467 |
| MONDO:0973903 |
generalised granuloma annulare |
icd11.foundation:228878740 |
MONDO:equivalentTo |
Generalised granuloma annulare |
This form of granuloma annulare typically manifests as numerous small asymptomatic skin-coloured or erythematous infiltrated but barely elevated dermal papules on the trunk and proximal limbs. These tend to be arranged in arcs or rings which may coalesce as they enlarge, leaving behind a violaceous discolouration of the skin. In contrast to the localised form, it is commonest in middle-aged women. |
MONDO:0006554 |
| MONDO:0973904 |
essential pentosuria |
icd11.foundation:229172147 |
MONDO:equivalentTo |
Essential pentosuria |
Pentosuria is an inborn error of metabolism which is characterised by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. Pentosuria is benign and shows no symptoms. |
MONDO:0019231 |
| MONDO:0973905 |
delusional disorder, in full remission |
icd11.foundation:229201285 |
MONDO:equivalentTo |
Delusional disorder, in full remission |
All definitional requirements for Delusional disorder in terms of symptoms and duration were previously met. Symptoms have ameliorated such that no significant symptoms remain. The remission may have occurred in response to medication or other treatment. |
MONDO:0004359 |
| MONDO:0973906 |
streptococcal ecthyma |
icd11.foundation:229362936 |
MONDO:equivalentTo |
Streptococcal ecthyma |
|
MONDO:0001404 |
| MONDO:0973907 |
scleral abscess |
icd11.foundation:229544966 |
MONDO:equivalentTo |
Scleral abscess |
|
MONDO:0001718 |
| MONDO:0973908 |
bursitis with unknown aetiology, upper arm |
icd11.foundation:230741761 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, upper arm |
|
MONDO:0002471 |
| MONDO:0973909 |
senile cervicitis |
icd11.foundation:231282695 |
MONDO:equivalentTo |
Senile cervicitis |
|
MONDO:0002345 |
| MONDO:0973910 |
lh resistance due to complete lh receptor inactivation |
icd11.foundation:232167901 |
MONDO:equivalentTo |
LH resistance due to complete LH receptor inactivation |
This is a rare autosomal recessive genetic and endocrine syndrome, characterised by an inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signalling Leydig cells of the testicles to produce testos. This diagnosis is due to complete LH receptor inactivation. |
MONDO:0019155 |
| MONDO:0973911 |
alcohol withdrawal with perceptual disturbances and seizures |
icd11.foundation:232349777 |
MONDO:equivalentTo |
Alcohol withdrawal with perceptual disturbances and seizures |
All diagnostic requirements for Alcohol withdrawal are met and the withdrawal state is accompanied by both seizures (i.e., generalised tonic-clonic seizures) and perceptual disturbances (e.g., visual or tactile hallucinations or illusions) with intact reality testing. Diagnostic requirements for Delirium are not met. |
MONDO:0005433 |
| MONDO:0973912 |
interstitial pregnancy |
icd11.foundation:232469447 |
MONDO:equivalentTo |
Interstitial pregnancy |
|
MONDO:0000755 |
| MONDO:0973913 |
sensory predominant chronic inflammatory demyelinating neuropathy |
icd11.foundation:232818057 |
MONDO:equivalentTo |
Sensory predominant chronic inflammatory demyelinating neuropathy |
|
MONDO:0006702 |
| MONDO:0973914 |
combined immunodeficiency with facio-oculo-skeletal anomalies |
icd11.foundation:233206593 |
MONDO:equivalentTo |
Combined immunodeficiency with facio-oculo-skeletal anomalies |
These are immunodeficiency disorders that involve multiple components of the immune system, including both humoral immunity and cell-mediated immunity. This diagnosis is with facio-oculo-skeletal anomalies. |
MONDO:0015131 |
| MONDO:0973915 |
acromesomelic dysplasia, hunter-thomson type |
icd11.foundation:233333310 |
MONDO:equivalentTo |
Acromesomelic dysplasia, Hunter-Thomson type |
Acromesomelic dysplasia Hunter-Thompson type is a very rare autosomal recessive disorder belonging to the group of acromesomelic dysplasias, and is clinically characterised by severe dwarfism with abnormalities limited to the limbs with the middle and distal segments being the most affected, and the lower limbs are more affected than the upper limbs. |
MONDO:0019696 |
| MONDO:0973916 |
plexiform neurofibroma of unspecified site |
icd11.foundation:23340386 |
MONDO:equivalentTo |
Plexiform neurofibroma of unspecified site |
|
MONDO:0016755 |
| MONDO:0973917 |
postoperative gingival recession |
icd11.foundation:233589831 |
MONDO:equivalentTo |
Postoperative gingival recession |
|
MONDO:0001268 |
| MONDO:0973918 |
myocardial infarction with nonobstructive coronary arteries |
icd11.foundation:233669871 |
MONDO:equivalentTo |
Myocardial infarction with nonobstructive coronary arteries |
Myocardial infarction with nonobstructive coronary arteries (MINOCA) is clinically defined by the presence of the universal acute myocardial infarction (AMI) criteria, absence of obstructive coronary artery disease (50% stenosis), and no overt cause for the clinical presentation at the time of angiography (e.g., classic features for takotsubo cardiomyopathy). |
MONDO:0004781 |
| MONDO:0973919 |
paediatric onset systemic sclerosis |
icd11.foundation:2338375 |
MONDO:equivalentTo |
Paediatric onset systemic sclerosis |
Systemic sclerosis arising before the age of 16. Involvement of internal organs is less common but arthritis and myositis are more common than in adults. |
MONDO:0005100 |
| MONDO:0973920 |
alpha-1-antichymotrypsin deficiency |
icd11.foundation:234033190 |
MONDO:equivalentTo |
Alpha-1-antichymotrypsin deficiency |
|
MONDO:0013282 |
| MONDO:0973921 |
idiopathic adrenogenital disorder |
icd11.foundation:234634859 |
MONDO:equivalentTo |
Idiopathic adrenogenital disorder |
|
MONDO:0015898 |
| MONDO:0973922 |
permanent congenital hypothyroidism with diffuse goitre |
icd11.foundation:234769120 |
MONDO:equivalentTo |
Permanent congenital hypothyroidism with diffuse goitre |
A condition caused by a partial or complete loss of thyroid function due to failure of the thyroid to correctly develop during the antenatal period. This condition is characterised by a swollen, smooth thyroid gland, and in infants by a dull look, puffy face, and thick tongue that sticks out. This condition may also present with choking episodes, constipation, dry brittle hair, jaundice, lack of muscle tone, low hairline, poor feeding, short height, sleepiness, or sluggishness. |
MONDO:0016408 |
| MONDO:0973923 |
benign neoplasm of vermilion border of lip |
icd11.foundation:234927082 |
MONDO:equivalentTo |
Benign neoplasm of vermilion border of lip |
|
MONDO:0021496 |
| MONDO:0973924 |
ornithine-delta-aminotransferase deficiency |
icd11.foundation:235631284 |
MONDO:equivalentTo |
Ornithine-delta-aminotransferase deficiency |
|
MONDO:0017356 |
| MONDO:0973925 |
splanchnic arteriovenous fistula |
icd11.foundation:237020948 |
MONDO:equivalentTo |
Splanchnic arteriovenous fistula |
|
MONDO:0005080 |
| MONDO:0973926 |
paraphasia |
icd11.foundation:237210689 |
MONDO:equivalentTo |
Paraphasia |
|
MONDO:0000598 |
| MONDO:0973927 |
spastic hemiplegia of non-dominant side |
icd11.foundation:238113424 |
MONDO:equivalentTo |
Spastic hemiplegia of non-dominant side |
|
MONDO:0001168 |
| MONDO:0973928 |
citrobacter meningitis |
icd11.foundation:23840474 |
MONDO:equivalentTo |
Citrobacter meningitis |
|
MONDO:0006670 |
| MONDO:0973929 |
long segment hirschsprung disease |
icd11.foundation:238740618 |
MONDO:equivalentTo |
Long segment Hirschsprung disease |
A subtype of Hirschsprung disease, in which affected segment extends past rectosigmoid junction and can affect the more proximal region of colon. |
MONDO:0018309 |
| MONDO:0973930 |
panniculitis affecting regions of neck and back |
icd11.foundation:238768633 |
MONDO:equivalentTo |
Panniculitis affecting regions of neck and back |
|
MONDO:0006591 |
| MONDO:0973931 |
osteonecrosis due to trauma, trunk |
icd11.foundation:239309913 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, trunk |
|
MONDO:0018375 |
| MONDO:0973932 |
comedo naevus |
icd11.foundation:239470843 |
MONDO:equivalentTo |
Comedo naevus |
|
MONDO:0020979 |
| MONDO:0973933 |
semantic aphasia |
icd11.foundation:241288353 |
MONDO:equivalentTo |
Semantic aphasia |
|
MONDO:0000598 |
| MONDO:0973934 |
skeletal fluorosis, head |
icd11.foundation:241760664 |
MONDO:equivalentTo |
Skeletal fluorosis, head |
|
MONDO:0400003 |
| MONDO:0973935 |
chronic anterior uveitis of unknown aetiology |
icd11.foundation:241852279 |
MONDO:equivalentTo |
Chronic anterior uveitis of unknown aetiology |
This is a chronic inflammation of the iris and ciliary body that typically has an insidious onset and lasts longer than 6 weeks. |
MONDO:0006651 |
| MONDO:0973936 |
ehlers-danlos syndrome, hypermobile type |
icd11.foundation:24232012 |
MONDO:equivalentTo |
Ehlers-Danlos syndrome, hypermobile type |
Ehlers-Danlos syndrome, hypermobile form (formerly EDS type III) is the most frequent form of EDS and is characterised by generalised joint hyperlaxity, which is often quite severe (Beighton score above 5) and variable degrees of skin hyperextensibility. |
MONDO:0020066 |
| MONDO:0973937 |
juvenile osteochondrosis |
icd11.foundation:242668079 |
MONDO:equivalentTo |
Juvenile osteochondrosis |
|
MONDO:0018381 |
| MONDO:0973938 |
gamna disease |
icd11.foundation:242710952 |
MONDO:equivalentTo |
Gamna disease |
|
MONDO:0006795 |
| MONDO:0973939 |
immunodeficiency with factor b deficiency |
icd11.foundation:243040830 |
MONDO:equivalentTo |
Immunodeficiency with factor B deficiency |
|
MONDO:0015136 |
| MONDO:0973940 |
methadone intoxication |
icd11.foundation:243729592 |
MONDO:equivalentTo |
Methadone intoxication |
|
MONDO:0018173 |
| MONDO:0973941 |
congenital stenosis of urethral valve |
icd11.foundation:24412037 |
MONDO:equivalentTo |
Congenital stenosis of urethral valve |
|
MONDO:0018559 |
| MONDO:0973942 |
secondary cutaneous mucinosis |
icd11.foundation:245221967 |
MONDO:equivalentTo |
Secondary cutaneous mucinosis |
Cutaneous mucinosis may be found in a variety of different settings either purely histologically or with clinical manifestations, usually papular mucinosis. Examples include L-tryptophan poisoning, malignant atrophic papulosis and lupus erythematosus. |
MONDO:0002523 |
| MONDO:0973943 |
budgerigar fanciers' lung |
icd11.foundation:245940284 |
MONDO:equivalentTo |
Budgerigar fanciers' lung |
|
MONDO:0005668 |
| MONDO:0973944 |
autosomal-recessive optic atrophy |
icd11.foundation:247081496 |
MONDO:equivalentTo |
Autosomal-recessive optic atrophy |
Optic nerve disorders inherited in an autosomal recessive manner |
MONDO:0020249 |
| MONDO:0973945 |
subacute prostatitis |
icd11.foundation:247322807 |
MONDO:equivalentTo |
Subacute prostatitis |
|
MONDO:0022103 |
| MONDO:0973946 |
drug-induced osteoporosis, pelvic region or thigh |
icd11.foundation:248605879 |
MONDO:equivalentTo |
Drug-induced osteoporosis, pelvic region or thigh |
|
MONDO:0024650 |
| MONDO:0973947 |
sylvatic yellow fever |
icd11.foundation:248752975 |
MONDO:equivalentTo |
Sylvatic yellow fever |
This is an acute viral haemorrhagic disease. The virus is a 40 to 50nm enveloped positive sense RNA virus, the first human virus discovered and the namesake of the Flavivirus genus. |
MONDO:0020502 |
| MONDO:0973948 |
catarrhal laryngitis |
icd11.foundation:248851240 |
MONDO:equivalentTo |
Catarrhal laryngitis |
|
MONDO:0001369 |
| MONDO:0973949 |
guttate flare of plaque psoriasis |
icd11.foundation:249076263 |
MONDO:equivalentTo |
Guttate flare of plaque psoriasis |
Acute exacerbation of psoriasis with widespread guttate papules in individual with existing plaque psoriasis. It is typically triggered by streptococcal infection. It is to be distinguished from unstable psoriasis and from forms of stable chronic plaque psoriasis in which small papules may predominate. |
MONDO:0023297 |
| MONDO:0973950 |
panniculitis, unspecified, upper arm |
icd11.foundation:249424720 |
MONDO:equivalentTo |
Panniculitis, unspecified, upper arm |
|
MONDO:0006591 |
| MONDO:0973951 |
benign neoplasm of the labial commissure |
icd11.foundation:249908090 |
MONDO:equivalentTo |
Benign neoplasm of the labial commissure |
|
MONDO:0021496 |
| MONDO:0973952 |
autosomal ichthyosis syndromes with hair abnormalities |
icd11.foundation:250018994 |
MONDO:equivalentTo |
Autosomal ichthyosis syndromes with hair abnormalities |
Hereditary autosomal disorders in which ichthyosis and hair abnormalities are prominent features. |
MONDO:0017263 |
| MONDO:0973953 |
secondary angle closure glaucoma |
icd11.foundation:250196878 |
MONDO:equivalentTo |
Secondary angle closure glaucoma |
|
MONDO:0005041 |
| MONDO:0973954 |
eclampsia, time period unspecified |
icd11.foundation:250375350 |
MONDO:equivalentTo |
Eclampsia, time period unspecified |
Onset of convulsions in a woman with pre-eclampsia not attributable to other causes without a specific onset time. |
MONDO:0001754 |
| MONDO:0973955 |
juvenile polymyositis, paraneoplastic |
icd11.foundation:251029381 |
MONDO:equivalentTo |
Juvenile polymyositis, paraneoplastic |
Juvenile paraneoplastic polymyositis is an early-onset immune inflammatory muscle disorders associated with cancer. Lung and colorectal cancers were the most common cancers in men; among women, 20% is related to breast neoplasia |
MONDO:0019734 |
| MONDO:0973956 |
alloimmune thrombocytopenia |
icd11.foundation:251307303 |
MONDO:equivalentTo |
Alloimmune thrombocytopenia |
A disease caused by determinants such as a blood transfusion that lead to an immune response to the foreign antigens. This disease is characterised by low levels of platelets in the body due to an immune reactive response to the foreign platelet antigens. This disease may present with increased bruising or haemorrhaging. Confirmation is by identification of decreased platelet count and presence of autoantibodies in a blood sample. |
MONDO:0001198 |
| MONDO:0973957 |
b variant of hexosaminidase a deficiency |
icd11.foundation:252686670 |
MONDO:equivalentTo |
B variant of hexosaminidase A deficiency |
|
MONDO:0010100 |
| MONDO:0973958 |
biphasic mesothelioma of pleura |
icd11.foundation:252701792 |
MONDO:equivalentTo |
Biphasic mesothelioma of pleura |
|
MONDO:0006292 |
| MONDO:0973959 |
syndactyly of fingers |
icd11.foundation:252859784 |
MONDO:equivalentTo |
Syndactyly of fingers |
|
MONDO:0019530 |
| MONDO:0973960 |
angular cheilitis exacerbated by nutritional deficiency |
icd11.foundation:253104185 |
MONDO:equivalentTo |
Angular cheilitis exacerbated by nutritional deficiency |
Angular cheilitis which results from nutritional deficiency, particularly of riboflavin, folate or iron. |
MONDO:0000741 |
| MONDO:0973961 |
pituitary gland hypertrophy |
icd11.foundation:253387466 |
MONDO:equivalentTo |
Pituitary gland hypertrophy |
|
MONDO:0015127 |
| MONDO:0973962 |
disorders of metabolism or transport of other vitamins or cofactors |
icd11.foundation:253449414 |
MONDO:equivalentTo |
Disorders of metabolism or transport of other vitamins or cofactors |
|
MONDO:0017758 |
| MONDO:0973963 |
dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit |
icd11.foundation:25416010 |
MONDO:equivalentTo |
Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit |
Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. |
MONDO:0019589 |
| MONDO:0973964 |
osteoporosis associated with psychiatric disorders |
icd11.foundation:254499847 |
MONDO:equivalentTo |
Osteoporosis associated with psychiatric disorders |
|
MONDO:0005298 |
| MONDO:0973965 |
blastoid mantle cell lymphoma |
icd11.foundation:254566336 |
MONDO:equivalentTo |
Blastoid mantle cell lymphoma |
|
MONDO:0018876 |
| MONDO:0973966 |
late onset childhood occipital epilepsy, gastaut type |
icd11.foundation:254674439 |
MONDO:equivalentTo |
Late onset childhood occipital epilepsy, Gastaut type |
A childhood-related epilepsy with onset between 3 and 15 years and seizures characterised by elementary visual hallucinations and/or blindness, with remission occurring in 50-60% of cases within 2-4 years. The EEG shows occipital paroxysms, often demonstrating fixation-off sensitivity. Neuroimaging and other diagnostic tests are normal. |
MONDO:0007558 |
| MONDO:0973967 |
acute myelomonocytic leukaemia in complete remission |
icd11.foundation:254723103 |
MONDO:equivalentTo |
Acute myelomonocytic leukaemia in complete remission |
|
MONDO:0018871 |
| MONDO:0973968 |
adenoid basal carcinoma of cervix uteri |
icd11.foundation:255284408 |
MONDO:equivalentTo |
Adenoid basal carcinoma of cervix uteri |
|
MONDO:0005153 |
| MONDO:0973969 |
juvenile enthesitis related arthritis, hla b27 positive |
icd11.foundation:256069398 |
MONDO:equivalentTo |
Juvenile enthesitis related arthritis, HLA B27 positive |
|
MONDO:0019437 |
| MONDO:0973970 |
calcium deposit in bursa |
icd11.foundation:256560399 |
MONDO:equivalentTo |
Calcium deposit in bursa |
|
MONDO:0002471 |
| MONDO:0973971 |
wild type transthyretin-related amyloid cardiomyopathy |
icd11.foundation:25699053 |
MONDO:equivalentTo |
Wild type transthyretin-related amyloid cardiomyopathy |
Wild type transthyretin-related (TTR) amyloid cardiomyopathy is a non-hereditary sporadic TTR-related systemic amyloidosis with predominant cardiac involvement associated with advancing age and resulting from myocardial infiltration of misaggregated wild-type transthyretin into amyloid filaments. |
MONDO:0016345 |
| MONDO:0973972 |
proximal duplications of the long arm of chromosome 4 |
icd11.foundation:25708128 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 4 |
|
MONDO:0016955 |
| MONDO:0973973 |
accessory sinus infection |
icd11.foundation:257279035 |
MONDO:equivalentTo |
Accessory sinus infection |
|
MONDO:0006031 |
| MONDO:0973974 |
medial duplications of the long arm of chromosome 7 |
icd11.foundation:257287890 |
MONDO:equivalentTo |
Medial duplications of the long arm of chromosome 7 |
|
MONDO:0016958 |
| MONDO:0973975 |
non-bullous impetigo |
icd11.foundation:25824900 |
MONDO:equivalentTo |
Non-bullous impetigo |
Non-bullous impetigo is due to superficial skin infection with either Streptococcus pyogenes or Staphylococcus aureus or both. The very superficial blisters which form in the upper epidermis are soon shed and rarely seen (cf. bullous impetigo) so that it normally presents with areas of superficial oozing and crusting on the skin surface. It often following minor skin injury or on skin damaged by a preexisting dermatosis such as atopic eczema or scabies. |
MONDO:0004592 |
| MONDO:0973976 |
suppurative inflammation of subgingival space |
icd11.foundation:258427313 |
MONDO:equivalentTo |
Suppurative inflammation of subgingival space |
|
MONDO:0020782 |
| MONDO:0973977 |
choroideremia - deafness - obesity |
icd11.foundation:258957131 |
MONDO:equivalentTo |
Choroideremia - deafness - obesity |
Choroideremia - deafness - obesity syndrome is defined as the association of choroideremia (a X-linked recessive eye disorder that is characterised by progressive degeneration of the choroid, retinal pigment epithelium, and neural retina) with obesity and deafness with stapes fixation. |
MONDO:0010557 |
| MONDO:0973978 |
aapoal amyloidosis |
icd11.foundation:259303873 |
MONDO:equivalentTo |
AApoAl amyloidosis |
|
MONDO:0018634 |
| MONDO:0973979 |
primary parathyroid hyperplasia |
icd11.foundation:259308922 |
MONDO:equivalentTo |
Primary parathyroid hyperplasia |
|
MONDO:0016365 |
| MONDO:0973980 |
accessory sinus bone abscess |
icd11.foundation:259819221 |
MONDO:equivalentTo |
Accessory sinus bone abscess |
|
MONDO:0006031 |
| MONDO:0973981 |
hyper-igm syndrome due to cd40 ligand deficiency |
icd11.foundation:259869879 |
MONDO:equivalentTo |
Hyper-IgM syndrome due to CD40 ligand deficiency |
|
MONDO:0015131 |
| MONDO:0973982 |
low anorectal malformation with fistula |
icd11.foundation:260068129 |
MONDO:equivalentTo |
Low anorectal malformation with fistula |
This is a type of anorectal malformation. This is a low lesion, in which cul-de-sac below the level of the pubococcygeal line. There is an incomplete covered anus with anocutaneous perineal or scrotal/anovestibular fistula and anal stenosis (ectopic anus). |
MONDO:0015733 |
| MONDO:0973983 |
alcoholic hepatitis without cirrhosis |
icd11.foundation:260254351 |
MONDO:equivalentTo |
Alcoholic hepatitis without cirrhosis |
|
MONDO:0001505 |
| MONDO:0973984 |
friedlander bacillus meningitis |
icd11.foundation:26099274 |
MONDO:equivalentTo |
Friedlander bacillus meningitis |
|
MONDO:0006670 |
| MONDO:0973985 |
accessory sinus empyema |
icd11.foundation:261717573 |
MONDO:equivalentTo |
Accessory sinus empyema |
|
MONDO:0006031 |
| MONDO:0973986 |
examination phobia |
icd11.foundation:262589771 |
MONDO:equivalentTo |
Examination phobia |
|
MONDO:0012000 |
| MONDO:0973987 |
apical or periapical granuloma |
icd11.foundation:2626453 |
MONDO:equivalentTo |
Apical or periapical granuloma |
|
MONDO:0001251 |
| MONDO:0973988 |
mild personality disorder |
icd11.foundation:263226710 |
MONDO:equivalentTo |
Mild personality disorder |
All general diagnostic requirements for Personality Disorder are met. Disturbances affect some areas of personality functioning but not others (e.g., problems with self-direction in the absence of problems with stability and coherence of identity or self-worth), and may not be apparent in some contexts. There are problems in many interpersonal relationships and/or in performance of expected occupational and social roles, but some relationships are maintained and/or some roles carried out. Specific manifestations of personality disturbances are generally of mild severity. Mild Personality Disorder is typically not associated with substantial harm to self or others, but may be associated with substantial distress or with impairment in personal, family, social, educational, occupational or other important areas of functioning that is either limited to circumscribed areas (e.g., romantic relationships; employment) or present in more areas but milder. |
MONDO:0002028 |
| MONDO:0973989 |
kaschin-beck disease, ankle or foot |
icd11.foundation:263431739 |
MONDO:equivalentTo |
Kaschin-Beck disease, ankle or foot |
|
MONDO:0005610 |
| MONDO:0973990 |
vaginal stenosis |
icd11.foundation:264064043 |
MONDO:equivalentTo |
Vaginal stenosis |
|
MONDO:0019007 |
| MONDO:0973991 |
mechanical lagophthalmos upper eyelid |
icd11.foundation:264072605 |
MONDO:equivalentTo |
Mechanical lagophthalmos upper eyelid |
This is the mechanical inability to close the eyelids completely. Blinking covers the eye with a thin layer of tear fluid, thereby promoting a moist environment necessary for the cells of the exterior part of the eye. The tears also flush out foreign bodies and wash them away. This is crucial to maintain lubrication and proper eye health. If this process is impaired, as in lagophthalmos, the eye can suffer abrasions and infections. Lagophthalmos leads to corneal drying and ulceration. This diagnosis is of the upper eyelid. |
MONDO:0001622 |
| MONDO:0973992 |
astrocytoma of retina |
icd11.foundation:264233839 |
MONDO:equivalentTo |
Astrocytoma of retina |
|
MONDO:0021453 |
| MONDO:0973993 |
congenital chalasia |
icd11.foundation:264588345 |
MONDO:equivalentTo |
Congenital chalasia |
This is a congenital form of the relaxation or inhibition of sustained contraction of a ring of muscle in cardiac sphincter of the oesophagus surrounding the cardiac opening. |
MONDO:0019513 |
| MONDO:0973994 |
congenital absence of larynx |
icd11.foundation:264706494 |
MONDO:equivalentTo |
Congenital absence of larynx |
This refers to the congenital absence of the organ involved in breathing, sound production, and protecting the trachea against food aspiration. |
MONDO:0015504 |
| MONDO:0973995 |
hepatosplenic fibrosis |
icd11.foundation:264801310 |
MONDO:equivalentTo |
Hepatosplenic fibrosis |
|
MONDO:0005080 |
| MONDO:0973996 |
proximal deletions of the short arm of chromosome 1 |
icd11.foundation:265140169 |
MONDO:equivalentTo |
Proximal deletions of the short arm of chromosome 1 |
|
MONDO:0016883 |
| MONDO:0973997 |
aneurysmal bone cyst, forearm |
icd11.foundation:265942636 |
MONDO:equivalentTo |
Aneurysmal bone cyst, forearm |
|
MONDO:0018815 |
| MONDO:0973998 |
inborn errors of energy metabolism |
icd11.foundation:266291267 |
MONDO:equivalentTo |
Inborn errors of energy metabolism |
|
MONDO:0019052 |
| MONDO:0973999 |
chronic inflammation of petrous bone |
icd11.foundation:266684235 |
MONDO:equivalentTo |
Chronic inflammation of petrous bone |
|
MONDO:0001109 |
| MONDO:0974000 |
myocardial impairment |
icd11.foundation:266958463 |
MONDO:equivalentTo |
Myocardial impairment |
|
MONDO:0005252 |
| MONDO:0974001 |
congenital bowing of ulna |
icd11.foundation:267225686 |
MONDO:equivalentTo |
Congenital bowing of ulna |
|
MONDO:0008882 |
| MONDO:0974002 |
listerial meningitis or meningoencephalitis |
icd11.foundation:268154767 |
MONDO:equivalentTo |
Listerial meningitis or meningoencephalitis |
A disease of the meninges or brain, caused by an infection with the gram-positive bacteria Listeria. This disease is characterised by fever, headache, or neurological deficits. Transmission is through haematogenous spread to the meninges from ingestion of contaminated food. Confirmation is by identification of Listeria from cerebrospinal fluid. |
MONDO:0006670 |
| MONDO:0974003 |
postmenopausal osteoporosis, hand |
icd11.foundation:268531960 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, hand |
|
MONDO:0008159 |
| MONDO:0974004 |
paraparetic variant of guillain-barr syndrome |
icd11.foundation:268878252 |
MONDO:equivalentTo |
Paraparetic variant of Guillain-Barr syndrome |
|
MONDO:0020347 |
| MONDO:0974005 |
upper limb hypertrophy, unilateral |
icd11.foundation:270449312 |
MONDO:equivalentTo |
Upper limb hypertrophy, unilateral |
|
MONDO:0017476 |
| MONDO:0974006 |
acute ulcerative laryngitis |
icd11.foundation:270656844 |
MONDO:equivalentTo |
Acute ulcerative laryngitis |
|
MONDO:0004777 |
| MONDO:0974007 |
sporadic adult-onset ataxia of unknown origin |
icd11.foundation:271092537 |
MONDO:equivalentTo |
Sporadic adult-onset ataxia of unknown origin |
This is a late-onset, progressive cerebellar ataxia of unknown etiology. Some studies have implicated immune mediated mechanisms in playing a causative role. |
MONDO:0016592 |
| MONDO:0974008 |
hyperdibasic aminoaciduria type 2 |
icd11.foundation:272724875 |
MONDO:equivalentTo |
Hyperdibasic aminoaciduria type 2 |
|
MONDO:0019216 |
| MONDO:0974009 |
coloboma of lens, unilateral |
icd11.foundation:27320281 |
MONDO:equivalentTo |
Coloboma of lens, unilateral |
|
MONDO:0020355 |
| MONDO:0974010 |
acrofacial dysostosis, nager type |
icd11.foundation:274140112 |
MONDO:equivalentTo |
Acrofacial dysostosis, Nager type |
Nager acrofacial dysostosis (NAFD) is a form of acrofacial dysostosis that comprises two groups of defects involving respectively the limbs (hypoplasia or absence of thumbs, triphalangeal thumbs and index finger, radioulnar synostosis) and craniofacial region (downward slant of palpebral fissures, ptosis of upper lids, coloboma of lower lids, deficiency of eyelashes of the medial one-third to two-thirds of the lower eyelids, hypoplasia of the malar eminences and zygomata, hypoplasia of maxilla with cleft of secondary palate or highly-arched palate, absence of velum (rarely with choanal atresia), extension of a ``tongue'' of temporal hair down the sides of the cheeks). |
MONDO:0019797 |
| MONDO:0974011 |
hermansky-pudlak syndrome type 9 |
icd11.foundation:274782718 |
MONDO:equivalentTo |
Hermansky-Pudlak syndrome type 9 |
|
MONDO:0019312 |
| MONDO:0974012 |
familial meniere disease |
icd11.foundation:27529631 |
MONDO:equivalentTo |
Familial Meniere disease |
|
MONDO:0007972 |
| MONDO:0974013 |
acute perforated gastric ulcer |
icd11.foundation:275405892 |
MONDO:equivalentTo |
Acute perforated gastric ulcer |
|
MONDO:0001126 |
| MONDO:0974014 |
pituitary gland degeneration |
icd11.foundation:275698069 |
MONDO:equivalentTo |
Pituitary gland degeneration |
|
MONDO:0015127 |
| MONDO:0974015 |
angiocholecystitis without calculus |
icd11.foundation:276097425 |
MONDO:equivalentTo |
Angiocholecystitis without calculus |
|
MONDO:0043994 |
| MONDO:0974016 |
balantidium coli anaemia |
icd11.foundation:276141709 |
MONDO:equivalentTo |
Balantidium coli anaemia |
|
MONDO:0005662 |
| MONDO:0974017 |
prolapse of the vaginal apex |
icd11.foundation:277101681 |
MONDO:equivalentTo |
Prolapse of the vaginal apex |
|
MONDO:0000082 |
| MONDO:0974018 |
soft lipoma of unspecified site |
icd11.foundation:277244932 |
MONDO:equivalentTo |
Soft lipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0974019 |
ventricular hypertrophy in tetralogy of fallot |
icd11.foundation:277481150 |
MONDO:equivalentTo |
Ventricular hypertrophy in tetralogy of Fallot |
|
MONDO:0008542 |
| MONDO:0974020 |
paranasal sinus mucormycosis |
icd11.foundation:277691172 |
MONDO:equivalentTo |
Paranasal sinus mucormycosis |
|
MONDO:0019136 |
| MONDO:0974021 |
chalazion externum |
icd11.foundation:278788556 |
MONDO:equivalentTo |
Chalazion externum |
|
MONDO:0005844 |
| MONDO:0974022 |
deep internal or visceral lipoma |
icd11.foundation:280287956 |
MONDO:equivalentTo |
Deep internal or visceral lipoma |
|
MONDO:0005106 |
| MONDO:0974023 |
hypochondriasis with poor to absent insight |
icd11.foundation:280906289 |
MONDO:equivalentTo |
Hypochondriasis with poor to absent insight |
All definitional requirements of hypochondriasis are met. Most or all of the time, the individual is convinced that the disorder-specific beliefs are true and cannot accept an alternative explanation for their experience. The lack of insight exhibited by the individual does not vary markedly as a function of anxiety level. |
MONDO:0001596 |
| MONDO:0974024 |
central retinal vein occlusion with vitreous haemorrhage |
icd11.foundation:281170159 |
MONDO:equivalentTo |
Central retinal vein occlusion with vitreous haemorrhage |
The central retinal vein is the venous equivalent of the central retinal artery and, like that blood vessel, it can suffer from occlusion, similar to that seen in ocular ischemic syndrome. This diagnosis is with the extravasation, or leakage, of blood into the areas in and around the vitreous humour of the eye. The vitreous humour is the clear gel that fills the space between the lens and the retina of the eye. A variety of conditions can result in blood leaking into the vitreous humour, which can cause impaired vision, floaters, and photopsia. |
MONDO:0002303 |
| MONDO:0974025 |
late congenital neurosyphilis |
icd11.foundation:282073961 |
MONDO:equivalentTo |
Late congenital neurosyphilis |
Neurological sequelae of longstanding (> 2 years) untreated congenital neurosyphilis include mental delay, hydrocephalus, seizures, cerebral infarction and cranial nerve palsies. |
MONDO:0005821 |
| MONDO:0974026 |
transposition of abdominal organs |
icd11.foundation:282132494 |
MONDO:equivalentTo |
Transposition of abdominal organs |
|
MONDO:0010029 |
| MONDO:0974027 |
autoimmune hepatitis type 1 without cirrhosis |
icd11.foundation:282202153 |
MONDO:equivalentTo |
Autoimmune hepatitis type 1 without cirrhosis |
Autoimmune hepatitis type 1 without cirrhosis is autoimmune hepatitis type 1 not complicated with liver cirrhosis. |
MONDO:0005543 |
| MONDO:0974028 |
disorders of calcium metabolism |
icd11.foundation:282632809 |
MONDO:equivalentTo |
Disorders of calcium metabolism |
This refers to disorders in the mechanism by which the body maintains adequate calcium levels. Derangements of this mechanism lead to hypercalcaemia or hypocalcaemia, both of which can have important consequences for health. |
MONDO:0017761 |
| MONDO:0974029 |
benign medulloepithelioma of ciliary body |
icd11.foundation:283417629 |
MONDO:equivalentTo |
Benign medulloepithelioma of ciliary body |
|
MONDO:0021486 |
| MONDO:0974030 |
influenza due to identified zoonotic or pandemic influenza virus |
icd11.foundation:283428170 |
MONDO:equivalentTo |
Influenza due to identified zoonotic or pandemic influenza virus |
Influenza, caused by influenza virus strains of special epidemiological importance with an animal-human or inter-human transmission. |
MONDO:0005812 |
|
|
|
|
|
For use of this category, reference must be made to the guidelines of the Global Influenza Programme (GIP, www.who.int/influenza/) of WHO. |
|
| MONDO:0974031 |
small cell bronchial carcinoma |
icd11.foundation:283530586 |
MONDO:equivalentTo |
Small cell bronchial carcinoma |
|
MONDO:0008433 |
| MONDO:0974032 |
scleral ulcer |
icd11.foundation:283992183 |
MONDO:equivalentTo |
Scleral ulcer |
|
MONDO:0001718 |
| MONDO:0974033 |
ventricular flutter |
icd11.foundation:284945134 |
MONDO:equivalentTo |
Ventricular flutter |
|
MONDO:0005477 |
| MONDO:0974034 |
distal deletions of the long arm of chromosome 9 |
icd11.foundation:285605431 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 9 |
|
MONDO:0016908 |
| MONDO:0974035 |
skeletal fluorosis, upper arm |
icd11.foundation:285860389 |
MONDO:equivalentTo |
Skeletal fluorosis, upper arm |
|
MONDO:0400003 |
| MONDO:0974036 |
dentine dysplasia type 1 |
icd11.foundation:28596001 |
MONDO:equivalentTo |
Dentine dysplasia type 1 |
In type 1 the roots are short, blunt and conical, while in deciduous teeth, pulp chambers and root canals are completely obliterated while in permanent they may be crescent shaped. |
MONDO:0015613 |
| MONDO:0974037 |
haemolytic anaemia due to glutathione reductase deficiency |
icd11.foundation:286285535 |
MONDO:equivalentTo |
Haemolytic anaemia due to glutathione reductase deficiency |
Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. It has been described in three children (one male and two females) born to consanguineous parents. Both parents had intermediate levels of GSR activity. One child presented with favism and two with cataracts. Transmission is autosomal recessive. This disease should be distinguished from glutathione reductase deficiency secondary to dietary riboflavin deficiency and from the acute pharmacologic phenocopy induced by carmustine (BCNU). GSR activity is not restored by riboflavin in vivo or by FAD in vitro. |
MONDO:0020105 |
| MONDO:0974038 |
camptodactyly of fingers, unilateral |
icd11.foundation:286633126 |
MONDO:equivalentTo |
Camptodactyly of fingers, unilateral |
|
MONDO:0007250 |
| MONDO:0974039 |
linear basal cell naevus |
icd11.foundation:288537510 |
MONDO:equivalentTo |
Linear basal cell naevus |
|
MONDO:0020979 |
| MONDO:0974040 |
holoanencephaly |
icd11.foundation:289044714 |
MONDO:equivalentTo |
Holoanencephaly |
|
MONDO:0000819 |
| MONDO:0974041 |
pneumococcal endocarditis |
icd11.foundation:289288790 |
MONDO:equivalentTo |
Pneumococcal endocarditis |
|
MONDO:0006669 |
| MONDO:0974042 |
juvenile psoriatic arthritis, upper arm |
icd11.foundation:289670436 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, upper arm |
|
MONDO:0019436 |
| MONDO:0974043 |
distal myopathy with posterior leg or anterior hand involvement |
icd11.foundation:289744228 |
MONDO:equivalentTo |
Distal myopathy with posterior leg or anterior hand involvement |
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterised by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. |
MONDO:0018949 |
| MONDO:0974044 |
classical cystic fibrosis |
icd11.foundation:290257878 |
MONDO:equivalentTo |
Classical cystic fibrosis |
#DRAFT# This is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. It is characterised by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions. |
MONDO:0009061 |
| MONDO:0974045 |
radiculopathy due to nutritional deficiencies |
icd11.foundation:290316556 |
MONDO:equivalentTo |
Radiculopathy due to nutritional deficiencies |
|
MONDO:0002959 |
| MONDO:0974046 |
fibrolamellar hepatocellular carcinoma of liver |
icd11.foundation:290874188 |
MONDO:equivalentTo |
Fibrolamellar hepatocellular carcinoma of liver |
|
MONDO:0007256 |
| MONDO:0974047 |
coloboma of macula, bilateral |
icd11.foundation:291006144 |
MONDO:equivalentTo |
Coloboma of macula, bilateral |
|
MONDO:0007351 |
| MONDO:0974048 |
haemorrhagic corpus luteum cyst |
icd11.foundation:291553455 |
MONDO:equivalentTo |
Haemorrhagic corpus luteum cyst |
|
MONDO:0001625 |
| MONDO:0974049 |
autosomal dominant thrombocytosis |
icd11.foundation:291588481 |
MONDO:equivalentTo |
Autosomal dominant thrombocytosis |
This is the autosomal dominant presence of high platelet counts in the blood, and can be either primary (also termed essential and caused by a myeloproliferative disease) or reactive (also termed secondary). |
MONDO:0019111 |
| MONDO:0974050 |
lymphocytic duodenitis |
icd11.foundation:291874007 |
MONDO:equivalentTo |
Lymphocytic duodenitis |
Chronic duodenitis characterised by a dense infiltration of benign lymphocytes into the epithelium and lamina propria. Lymphocytic duodenitis may present early gluten-induced damage. |
MONDO:0004627 |
| MONDO:0974051 |
carcinomas of ovary |
icd11.foundation:292186178 |
MONDO:equivalentTo |
Carcinomas of ovary |
|
MONDO:0008170 |
| MONDO:0974052 |
patella aplasia or hypoplasia, unilateral |
icd11.foundation:292262968 |
MONDO:equivalentTo |
Patella aplasia or hypoplasia, unilateral |
|
MONDO:0008205 |
| MONDO:0974053 |
b-cell prolymphocytic leukaemia in complete remission |
icd11.foundation:292791567 |
MONDO:equivalentTo |
B-cell prolymphocytic leukaemia in complete remission |
|
MONDO:0019461 |
| MONDO:0974054 |
chondromalacia, pelvic region or thigh |
icd11.foundation:293016463 |
MONDO:equivalentTo |
Chondromalacia, pelvic region or thigh |
|
MONDO:0002342 |
| MONDO:0974055 |
congenital endocarditis |
icd11.foundation:293576108 |
MONDO:equivalentTo |
Congenital endocarditis |
|
MONDO:0009169 |
| MONDO:0974056 |
deafness - oligodontia |
icd11.foundation:294533028 |
MONDO:equivalentTo |
Deafness - oligodontia |
Deafness - oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. |
MONDO:0019589 |
| MONDO:0974057 |
autosomal ichthyosis syndromes with neurological manifestations |
icd11.foundation:294801391 |
MONDO:equivalentTo |
Autosomal ichthyosis syndromes with neurological manifestations |
Hereditary autosomal disorders in which ichthyosis and neurological abnormalities are prominent features. |
MONDO:0017263 |
| MONDO:0974058 |
erosive adult-onset still disease |
icd11.foundation:295023638 |
MONDO:equivalentTo |
Erosive Adult-onset Still disease |
|
MONDO:0019355 |
| MONDO:0974059 |
echinococcus infection of liver |
icd11.foundation:295339888 |
MONDO:equivalentTo |
Echinococcus infection of liver |
|
MONDO:0005738 |
| MONDO:0974060 |
cheilodynia |
icd11.foundation:295426319 |
MONDO:equivalentTo |
Cheilodynia |
This is a diagnosis of exclusion where no alternative cause for a persistent unpleasant burning sensation affecting the lips can be found. It is regarded as a form of burning mouth syndrome. |
MONDO:0006687 |
| MONDO:0974061 |
amyloid corneal dystrophy |
icd11.foundation:296336522 |
MONDO:equivalentTo |
Amyloid corneal dystrophy |
|
MONDO:0018102 |
| MONDO:0974062 |
neutrophilic dermatosis of the hands |
icd11.foundation:297439963 |
MONDO:equivalentTo |
Neutrophilic dermatosis of the hands |
A clinically distinct variant of Sweet syndrome in which inflammatory plaques and pustules are largely confined to the dorsal surfaces of the hands. Although criteria for small vessel vasculitis may be present and it has been reported as pustular vasculitis of the hands, it is now considered that the vasculitis is secondary to intense local inflammation. Its relationship to underlying blood dyscrasias is stronger than in classical Sweet syndrome. |
MONDO:0011959 |
| MONDO:0974063 |
panniculitis, unspecified, head |
icd11.foundation:297595123 |
MONDO:equivalentTo |
Panniculitis, unspecified, head |
|
MONDO:0006591 |
| MONDO:0974064 |
trichorrhexis nodosa syndrome |
icd11.foundation:298418148 |
MONDO:equivalentTo |
Trichorrhexis nodosa syndrome |
|
MONDO:0018053 |
| MONDO:0974065 |
early chronic graft-versus-host disease |
icd11.foundation:298553183 |
MONDO:equivalentTo |
Early chronic graft-versus-host disease |
Early chronic graft-versus-host disease is characterised by a lichenoid rash with involvement of oral and occasionally genital mucous membranes. As the disease process continues the skin becomes more poikilodermatous and fibrotic. Reduced tear and saliva production may result in dry eyes and mouth. |
MONDO:0020547 |
| MONDO:0974066 |
mannosyltransferase 7-9 deficiency |
icd11.foundation:2996593 |
MONDO:equivalentTo |
Mannosyltransferase 7-9 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IL is characterised by psychomotor delay, seizures, hypotonia and hepatomegaly. It has been described in two girls. The syndrome is associated with mutations in the ALG9 gene (localised to the q23 region of chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,2-mannosyl transferase. |
MONDO:0017740 |
| MONDO:0974067 |
acromesomelic dysplasia, maroteaux type |
icd11.foundation:29990978 |
MONDO:equivalentTo |
Acromesomelic dysplasia, Maroteaux type |
Acromesomelic dysplasia Maroteaux type is a rare autosomal recessive osteochondrodysplasia belonging to the group of acromesomelic dysplasias, and is clinically characterised by severe dwarfism with shortening of the middle and distal segments of the limbs, and radiologically, by short broad fingers, shortening of the middle long bones with a bowed radius, and vertebral abnormalities. |
MONDO:0019696 |
| MONDO:0974068 |
chest cavity neurofibroma |
icd11.foundation:299985413 |
MONDO:equivalentTo |
Chest cavity neurofibroma |
|
MONDO:0016755 |
| MONDO:0974069 |
solitary bone cyst, vertebral column |
icd11.foundation:300277487 |
MONDO:equivalentTo |
Solitary bone cyst, vertebral column |
|
MONDO:0019372 |
| MONDO:0974070 |
medial deletions of the long arm of chromosome 1 |
icd11.foundation:300461600 |
MONDO:equivalentTo |
Medial deletions of the long arm of chromosome 1 |
|
MONDO:0022756 |
| MONDO:0974071 |
hereditary neuralgic amyotrophy |
icd11.foundation:300879915 |
MONDO:equivalentTo |
Hereditary neuralgic amyotrophy |
|
MONDO:0015358 |
| MONDO:0974072 |
parathyroid tetany |
icd11.foundation:301348760 |
MONDO:equivalentTo |
Parathyroid tetany |
|
MONDO:0001220 |
| MONDO:0974073 |
hodgkin paragranuloma |
icd11.foundation:302850733 |
MONDO:equivalentTo |
Hodgkin paragranuloma |
|
MONDO:0009348 |
| MONDO:0974074 |
cleft lip or palate - deafness - sacral lipoma |
icd11.foundation:303202166 |
MONDO:equivalentTo |
Cleft lip or palate - deafness - sacral lipoma |
Cleft lip/palate - deafness - sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. |
MONDO:0019589 |
| MONDO:0974075 |
mediterranean macrothrombocytopenia |
icd11.foundation:303902006 |
MONDO:equivalentTo |
Mediterranean macrothrombocytopenia |
|
MONDO:0016361 |
| MONDO:0974076 |
disseminated cryptococcosis |
icd11.foundation:30418378 |
MONDO:equivalentTo |
Disseminated cryptococcosis |
Disseminated cryptococcosis is most common in immunocompromised hosts, with involvement with any organ and predilection for the central nervous system. It may manifest as systemic illness with fever, night sweats and malaise. Blood cultures may be positive (cryptococcaemia). |
MONDO:0005724 |
| MONDO:0974077 |
idiopathic aseptic osteochondritis dissecans |
icd11.foundation:304801301 |
MONDO:equivalentTo |
Idiopathic aseptic osteochondritis dissecans |
|
MONDO:0018380 |
| MONDO:0974078 |
anorexia nervosa with significantly low body weight |
icd11.foundation:306103450 |
MONDO:equivalentTo |
Anorexia Nervosa with significantly low body weight |
Anorexia Nervosa with significantly low body weight meets all definitional requirements for Anorexia Nervosa, with BMI between 18.5 kg/m2 and 14.0 kg/m for adults or between the fifth percentile and the 0.3 percentile for BMI-for-age in children and adolescents. |
MONDO:0005351 |
| MONDO:0974079 |
portal vein hypoplasia |
icd11.foundation:306557491 |
MONDO:equivalentTo |
Portal vein hypoplasia |
|
MONDO:0018811 |
| MONDO:0974080 |
idiopathic aseptic osteonecrosis, shoulder region |
icd11.foundation:307608737 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, shoulder region |
|
MONDO:0018380 |
| MONDO:0974081 |
otorhinolaryngological manifestations of unspecified cystic fibrosis |
icd11.foundation:308049692 |
MONDO:equivalentTo |
Otorhinolaryngological manifestations of unspecified cystic fibrosis |
|
MONDO:0009061 |
| MONDO:0974082 |
suppurative peritonitis |
icd11.foundation:308401093 |
MONDO:equivalentTo |
Suppurative peritonitis |
|
MONDO:0004522 |
| MONDO:0974083 |
thoracic aortic aneurysm with perforation |
icd11.foundation:308552628 |
MONDO:equivalentTo |
Thoracic aortic aneurysm with perforation |
|
MONDO:0005396 |
| MONDO:0974084 |
benign lymphoid polyp of large intestine |
icd11.foundation:309473869 |
MONDO:equivalentTo |
Benign lymphoid polyp of large intestine |
Benign lymphoid polyps are associated with hyperplasia (enhanced cell division) of lymphoid tissue in the colonic mucosa. It is seen in parts of the intestine where lymphoid tissues are concentrated like the ileum of the small intestine or rectum. |
MONDO:0021392 |
| MONDO:0974085 |
tuberculous pleurisy, without mention of bacteriological or histological confirmation |
icd11.foundation:309519352 |
MONDO:equivalentTo |
Tuberculous pleurisy, without mention of bacteriological or histological confirmation |
This is a common, and in many cases lethal, infectious disease caused by various strains of mycobacteria, usually Mycobacterium tuberculosis, with an inflammation of the pleura. This diagnosis is without mention of bacteriological or histological confirmation. |
MONDO:0957462 |
| MONDO:0974086 |
renal tubulo-interstitial disorders in cystinosis |
icd11.foundation:3098160 |
MONDO:equivalentTo |
Renal tubulo-interstitial disorders in cystinosis |
|
MONDO:0016239 |
| MONDO:0974087 |
medial duplications of the long arm of chromosome 5 |
icd11.foundation:309946051 |
MONDO:equivalentTo |
Medial duplications of the long arm of chromosome 5 |
|
MONDO:0016956 |
| MONDO:0974088 |
acquired optic atrophy |
icd11.foundation:311270680 |
MONDO:equivalentTo |
Acquired optic atrophy |
|
MONDO:0003608 |
| MONDO:0974089 |
alcohol induced osteonecrosis |
icd11.foundation:31180424 |
MONDO:equivalentTo |
Alcohol induced osteonecrosis |
|
MONDO:0005380 |
| MONDO:0974090 |
ethmoid fistula |
icd11.foundation:312157648 |
MONDO:equivalentTo |
Ethmoid fistula |
|
MONDO:0004757 |
| MONDO:0974091 |
bursitis with unknown aetiology, head |
icd11.foundation:312593598 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, head |
|
MONDO:0002471 |
| MONDO:0974092 |
hyperleucine-isoleucinaemia |
icd11.foundation:312633472 |
MONDO:equivalentTo |
Hyperleucine-isoleucinaemia |
|
MONDO:0019242 |
| MONDO:0974093 |
gaucher disease type 3 |
icd11.foundation:312650726 |
MONDO:equivalentTo |
Gaucher disease type 3 |
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (a lysosomal storage disorder caused by a deficiency in glucocerebrosidase) characterised by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term). |
MONDO:0018150 |
| MONDO:0974094 |
obliteration of ureter with infection |
icd11.foundation:312684234 |
MONDO:equivalentTo |
Obliteration of ureter with infection |
|
MONDO:0021750 |
| MONDO:0974095 |
dissociative amnesia without dissociative fugue |
icd11.foundation:312804864 |
MONDO:equivalentTo |
Dissociative amnesia without dissociative fugue |
Dissociative amnesia without dissociative fugue is characterised by all of the features of dissociative amnesia occurring in the absence of symptoms of dissociative fugue. |
MONDO:0001185 |
| MONDO:0974096 |
complement component c4b-binding protein deficiency |
icd11.foundation:312867111 |
MONDO:equivalentTo |
Complement component C4b-binding protein deficiency |
This refers to the deficiency of a large glycoprotein (500 kDa) with an estimated plasma concentration of 200 mg/L synthesized mainly in the liver. |
MONDO:0015136 |
| MONDO:0974097 |
congenital monoplegia |
icd11.foundation:313022646 |
MONDO:equivalentTo |
Congenital monoplegia |
|
MONDO:0000396 |
| MONDO:0974098 |
congenital megacalycosis, unilateral |
icd11.foundation:313272211 |
MONDO:equivalentTo |
Congenital megacalycosis, unilateral |
|
MONDO:0019639 |
| MONDO:0974099 |
congenital vascular bone syndrome with limb shortening |
icd11.foundation:314862691 |
MONDO:equivalentTo |
Congenital vascular bone syndrome with limb shortening |
|
MONDO:0016524 |
| MONDO:0974100 |
postinflammatory hydrocephalus |
icd11.foundation:315069615 |
MONDO:equivalentTo |
Postinflammatory hydrocephalus |
Is a type of communicating hydrocephalus caused by impaired cerebrospinal fluid transit in the subarachnoid spaces and/or reabsorption through the arachnoid villi in the absence of any CSF-flow obstruction between the ventricles and subarachnoid space. |
MONDO:0002045 |
| MONDO:0974101 |
confirmed rabies |
icd11.foundation:315345817 |
MONDO:equivalentTo |
Confirmed rabies |
A condition caused by an infection with rabies virus. This condition is characterised by an acute neurological syndrome dominated by hyperactivity or paralytic syndromes. Confirmation is by laboratory testing. |
MONDO:0019173 |
| MONDO:0974102 |
embitterment reaction |
icd11.foundation:316102712 |
MONDO:equivalentTo |
Embitterment reaction |
|
MONDO:0003265 |
| MONDO:0974103 |
reactive plasmacytic hyperplasia |
icd11.foundation:316694644 |
MONDO:equivalentTo |
Reactive plasmacytic hyperplasia |
|
MONDO:0020083 |
| MONDO:0974104 |
cystine hyperaminoaciduria |
icd11.foundation:317036619 |
MONDO:equivalentTo |
Cystine hyperaminoaciduria |
|
MONDO:0019216 |
| MONDO:0974105 |
spinal hydromeningocele |
icd11.foundation:317206131 |
MONDO:equivalentTo |
Spinal hydromeningocele |
|
MONDO:0008449 |
| MONDO:0974106 |
schizophrenia, continuous |
icd11.foundation:317761311 |
MONDO:equivalentTo |
Schizophrenia, continuous |
Symptoms fulfilling all definitional requirements of Schizophrenia have been present for almost all of the illness course over a period of at least one year, with periods of subthreshold symptoms being very brief relative to the overall course. |
MONDO:0005090 |
| MONDO:0974107 |
brucellosis due to brucella canis |
icd11.foundation:318751060 |
MONDO:equivalentTo |
Brucellosis due to Brucella canis |
B. canis is a widespread infection of dogs in many countries. It is infrequently |
MONDO:0005683 |
|
|
|
|
|
associated with human disease. |
|
| MONDO:0974108 |
transient global amnesia, complete resolution within less than 1 hour |
icd11.foundation:318936612 |
MONDO:equivalentTo |
Transient global amnesia, complete resolution within less than 1 hour |
|
MONDO:0001617 |
| MONDO:0974109 |
type 2 autoimmune pancreatitis featuring granulocytic epithelial lesion |
icd11.foundation:319563521 |
MONDO:equivalentTo |
Type 2 Autoimmune pancreatitis featuring granulocytic epithelial lesion |
This is an inflammation of the pancreas characterised by granulocytic epithelial lesion(s) in the pancreatic ducts. |
MONDO:0015175 |
| MONDO:0974110 |
proximal duplications of the short arm of chromosome 1 |
icd11.foundation:319669482 |
MONDO:equivalentTo |
Proximal duplications of the short arm of chromosome 1 |
|
MONDO:0017012 |
| MONDO:0974111 |
postmenopausal osteoporosis, lower leg |
icd11.foundation:31974803 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, lower leg |
|
MONDO:0008159 |
| MONDO:0974112 |
chondrocalcinosis, neck |
icd11.foundation:31994899 |
MONDO:equivalentTo |
Chondrocalcinosis, neck |
|
MONDO:0001314 |
| MONDO:0974113 |
limb-girdle muscular dystrophy 1h, gene mapped to 3p25.1p23 |
icd11.foundation:320673324 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 1H, gene mapped to 3p25.1p23 |
Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterised by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs. A candidate disease locus, within a 25-cM region on chromosome 3p25.1-p23, has been identified. |
MONDO:0015151 |
| MONDO:0974114 |
alpha b crystalline myopathy |
icd11.foundation:320805265 |
MONDO:equivalentTo |
Alpha B crystalline myopathy |
Alpha B crystalline myopathy or fatal infantile hypertonic myofibrillar myopathy is caused by homozygous mutation in the CRYAB gene. It is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. |
MONDO:0018943 |
| MONDO:0974115 |
enterobiasis due to enterobius vermicularis |
icd11.foundation:320941759 |
MONDO:equivalentTo |
Enterobiasis due to Enterobius vermicularis |
|
MONDO:0005746 |
| MONDO:0974116 |
calculus of bile duct with cholangitis |
icd11.foundation:321336984 |
MONDO:equivalentTo |
Calculus of bile duct with cholangitis |
Stones in bile duct present with inflammation of bile duct. |
MONDO:0012672 |
| MONDO:0974117 |
proximal duplications of the long arm of chromosome 3 |
icd11.foundation:321440887 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 3 |
|
MONDO:0016954 |
| MONDO:0974118 |
benign leydig cell tumour, unspecified site, male |
icd11.foundation:322272104 |
MONDO:equivalentTo |
Benign Leydig cell tumour, unspecified site, male |
|
MONDO:0021447 |
| MONDO:0974119 |
postinflammatory elastolysis and cutis laxa |
icd11.foundation:322622665 |
MONDO:equivalentTo |
Postinflammatory elastolysis and cutis laxa |
|
MONDO:0016446 |
| MONDO:0974120 |
adult-onset still disease, head |
icd11.foundation:323368117 |
MONDO:equivalentTo |
Adult-onset Still disease, head |
|
MONDO:0019355 |
| MONDO:0974121 |
fistula of nasal sinus |
icd11.foundation:32381300 |
MONDO:equivalentTo |
Fistula of nasal sinus |
|
MONDO:0006031 |
| MONDO:0974122 |
gilles de la tourette swearing |
icd11.foundation:3240968 |
MONDO:equivalentTo |
Gilles de la Tourette swearing |
|
MONDO:0007661 |
| MONDO:0974123 |
bilateral microtia - deafness - cleft palate |
icd11.foundation:324133990 |
MONDO:equivalentTo |
Bilateral microtia - deafness - cleft palate |
Bilateral microtia - deafness - cleft palate syndrome is characterised by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. |
MONDO:0019589 |
| MONDO:0974124 |
syndromic progressive noninfectious anterior vertebral fusion |
icd11.foundation:324488322 |
MONDO:equivalentTo |
Syndromic progressive noninfectious anterior vertebral fusion |
Syndromic progressive non-infectious anterior vertebral fusion is a rare bone disorder which associated manifestations include radio-ulnar synostosis, exostosis, absence of one cervical vertebrae, generalised overgrowth, facial dysmorphism, split cord malformation and/or situs inversus visceralis. |
MONDO:0019711 |
| MONDO:0974125 |
acute telogen effluvium |
icd11.foundation:324873341 |
MONDO:equivalentTo |
Acute telogen effluvium |
Acute telogen effluvium is an acute-onset scalp hair loss that occurs two to three months after a triggering, often life-threatening, stress which interrupts normal anagen hair growth. It is commonly seen in survivors who have required intensive care for severe sepsis, blood loss, inflammatory disease or trauma. It may also result from acute starvation. Large numbers of anagen hairs are converted to telogen and are shed two to three months later resulting in a diffuse alopecia. |
MONDO:0002153 |
| MONDO:0974126 |
secondary agranulocytosis |
icd11.foundation:325157565 |
MONDO:equivalentTo |
Secondary agranulocytosis |
This is a secondary and acute condition involving a severe and dangerous leukopenia (lowered white blood cell count), most commonly of neutrophils causing a neutropaenia in the circulating blood. |
MONDO:0015822 |
| MONDO:0974127 |
spondylolysis, thoracic region |
icd11.foundation:325281311 |
MONDO:equivalentTo |
Spondylolysis, thoracic region |
|
MONDO:0005541 |
| MONDO:0974128 |
congenital oesophageal web or ring |
icd11.foundation:325400233 |
MONDO:equivalentTo |
Congenital oesophageal web or ring |
A rare form of incomplete oesophageal obstruction due to a developmental defect of the primitive foregut that presents as a mucosal lesion forming an incomplete diaphragm. Symptoms (apparent from birth) include dysphagia, regurgitation, and choking. |
MONDO:0019513 |
| MONDO:0974129 |
portal vein distortion |
icd11.foundation:325827459 |
MONDO:equivalentTo |
Portal vein distortion |
|
MONDO:0018811 |
| MONDO:0974130 |
taeniasis due to taenia solium |
icd11.foundation:32590653 |
MONDO:equivalentTo |
Taeniasis due to Taenia solium |
A disease of the intestines, caused by an infection with the adult parasitic worm Taenia solium. This disease is characterised by abdominal pain, weight loss, diarrhoea, constipation, or may be asymptomatic. Transmission is by ingestion of larval cysts in undercooked pork. Confirmation is by identification of Taenia solium eggs or proglottidis in faecal samples (samples from multiple days). |
MONDO:0000367 |
| MONDO:0974131 |
plague meningitis |
icd11.foundation:326656364 |
MONDO:equivalentTo |
Plague meningitis |
Plague meningitis is a zoonotic disease caused by Yersinia pestis (formerly known as Pasteurella pestis) that involves the central nervous system. |
MONDO:0006670 |
| MONDO:0974132 |
bifid femur - monodactylous ectrodactyly |
icd11.foundation:32698895 |
MONDO:equivalentTo |
Bifid femur - monodactylous ectrodactyly |
Gollop-Wolfgang complex is a very rare malformation syndrome characterised by ectrodactyly of the hand and ipsilateral bifurcation of the femur. |
MONDO:0017433 |
| MONDO:0974133 |
cervical adenitis |
icd11.foundation:327081943 |
MONDO:equivalentTo |
Cervical adenitis |
|
MONDO:0002052 |
| MONDO:0974134 |
calcific tendinitis, multiple sites |
icd11.foundation:327299670 |
MONDO:equivalentTo |
Calcific tendinitis, multiple sites |
|
MONDO:0001903 |
| MONDO:0974135 |
bursitis with unknown aetiology, neck |
icd11.foundation:328168169 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, neck |
|
MONDO:0002471 |
| MONDO:0974136 |
lymphangiomatous cyst of unspecified site |
icd11.foundation:32961036 |
MONDO:equivalentTo |
Lymphangiomatous cyst of unspecified site |
|
MONDO:0019328 |
| MONDO:0974137 |
sunburn with blisters or exudation |
icd11.foundation:330445366 |
MONDO:equivalentTo |
Sunburn with blisters or exudation |
|
MONDO:0005326 |
| MONDO:0974138 |
adult-onset still disease, multiple sites |
icd11.foundation:330982201 |
MONDO:equivalentTo |
Adult-onset Still disease, multiple sites |
|
MONDO:0019355 |
| MONDO:0974139 |
aneurysmal bone cyst, ribs |
icd11.foundation:33121217 |
MONDO:equivalentTo |
Aneurysmal bone cyst, ribs |
|
MONDO:0018815 |
| MONDO:0974140 |
microcystoid degeneration of retina |
icd11.foundation:332813459 |
MONDO:equivalentTo |
Microcystoid degeneration of retina |
|
MONDO:0001451 |
| MONDO:0974141 |
temporal pallor of optic disc |
icd11.foundation:333199268 |
MONDO:equivalentTo |
Temporal pallor of optic disc |
|
MONDO:0003608 |
| MONDO:0974142 |
benign neoplasm of fundus of stomach |
icd11.foundation:333405760 |
MONDO:equivalentTo |
Benign neoplasm of fundus of stomach |
|
MONDO:0021449 |
| MONDO:0974143 |
double inlet right ventricle |
icd11.foundation:333513492 |
MONDO:equivalentTo |
Double inlet right ventricle |
A congenital cardiovascular malformation with a univentricular atrioventricular connection wherein both atria connect to a morphologically right ventricle either via two separate atrioventricular valves or a common atrioventricular valve, such that all or nearly all of the total atrioventricular junctional (annular) area is committed to the right ventricular chamber. |
MONDO:0015451 |
| MONDO:0974144 |
distal deletions of the long arm of chromosome 12 |
icd11.foundation:33376082 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 12 |
|
MONDO:0016877 |
| MONDO:0974145 |
postpartum prolapse of uterus |
icd11.foundation:334012722 |
MONDO:equivalentTo |
Postpartum prolapse of uterus |
|
MONDO:0000082 |
| MONDO:0974146 |
monocular exotropia with a pattern |
icd11.foundation:334087623 |
MONDO:equivalentTo |
Monocular exotropia with A pattern |
Monocular exotropia with an A pattern is an abnormal binocular alignment in which one of the eyes has an outward deviation. The additional descriptive feature of the presence of an A pattern is specified in which the eyes are less deviated in upgaze and more deviated in downgaze. |
MONDO:0001286 |
| MONDO:0974147 |
cryptosporidial gastritis |
icd11.foundation:334096192 |
MONDO:equivalentTo |
Cryptosporidial gastritis |
Gastric inflammation caused by infection by a coccidian protozoan parasite, Cryptosporidium. |
MONDO:0015474 |
| MONDO:0974148 |
lri-weill dyschondrosteosis |
icd11.foundation:334390528 |
MONDO:equivalentTo |
Lri-Weill dyschondrosteosis |
Leri-Weill dyschondrosteosis is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term). |
MONDO:0019697 |
| MONDO:0974149 |
early-onset pneumonia due to pseudomonas aeruginosa |
icd11.foundation:334593909 |
MONDO:equivalentTo |
Early-onset pneumonia due to Pseudomonas aeruginosa |
Early-onset pneumonia caused by Pseudomonas aeruginosa |
MONDO:0037398 |
| MONDO:0974150 |
acquired ocular motor apraxia |
icd11.foundation:335154468 |
MONDO:equivalentTo |
Acquired ocular motor apraxia |
Loss of voluntary control of saccades and pursuit with preservation of reflex movements |
MONDO:0020258 |
| MONDO:0974151 |
glioneuroma of ciliary body |
icd11.foundation:335548415 |
MONDO:equivalentTo |
Glioneuroma of ciliary body |
|
MONDO:0021486 |
| MONDO:0974152 |
spondylolysis, multiple sites in spine |
icd11.foundation:337683830 |
MONDO:equivalentTo |
Spondylolysis, multiple sites in spine |
|
MONDO:0005541 |
| MONDO:0974153 |
atresia of oesophagus without fistula |
icd11.foundation:338097604 |
MONDO:equivalentTo |
Atresia of oesophagus without fistula |
Congenital anomaly with an interruption in the continuity of the oesophagus, without persistent communication (fistula) with the trachea. |
MONDO:0008586 |
| MONDO:0974154 |
convulsive status epilepticus |
icd11.foundation:338178896 |
MONDO:equivalentTo |
Convulsive status epilepticus |
Convulsive status epilepticus is defined as 5 min or more of (i) continuous clinical convulsive seizure activity or (ii) recurrent seizure activity without recovery (returning to baseline) between seizures. |
MONDO:0002125 |
| MONDO:0974155 |
benign ependymoma |
icd11.foundation:338821956 |
MONDO:equivalentTo |
Benign ependymoma |
Ependymoma is the most frequent intramedullary tumour in adults (but accounts for only 10-12% of pediatric central nervous system tumours), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and that can cause obstructive hydrocephalus in some cases. |
MONDO:0016697 |
| MONDO:0974156 |
lymphoepithelial carcinoma of hypopharynx |
icd11.foundation:339171403 |
MONDO:equivalentTo |
Lymphoepithelial carcinoma of hypopharynx |
|
MONDO:0044638 |
| MONDO:0974157 |
ruptured acquired arteriovenous brain aneurysm |
icd11.foundation:339267414 |
MONDO:equivalentTo |
Ruptured acquired arteriovenous brain aneurysm |
|
MONDO:0019543 |
| MONDO:0974158 |
caries of cementum |
icd11.foundation:339572165 |
MONDO:equivalentTo |
Caries of cementum |
Dental caries affecting the cementum of a tooth |
MONDO:0005276 |
| MONDO:0974159 |
congenital slow channel syndrome |
icd11.foundation:339968706 |
MONDO:equivalentTo |
Congenital slow channel syndrome |
In slow channel syndrome, a congenital myasthenic syndrome subtype with a postsynaptic defect, there is selectively severe involvement of cervical and wrist and finger extensor muscles in most cases. Cranial muscles only mildly affected; slowly progressive course. Worsened by long-term pyridostigmine therapy; little or no response to edrophonium. Dominant inheritance in nearly all cases. |
MONDO:0018940 |
|
|
|
|
|
Repetitive nerve stimulation shows decrement and repetitive compound muscle action potentials. |
|
| MONDO:0974160 |
basaloid squamous cell carcinoma of hypopharynx |
icd11.foundation:340125518 |
MONDO:equivalentTo |
Basaloid squamous cell carcinoma of hypopharynx |
|
MONDO:0044638 |
| MONDO:0974161 |
necrotising enterocolitis of newborn, stage 3a |
icd11.foundation:340756241 |
MONDO:equivalentTo |
Necrotising enterocolitis of newborn, Stage 3A |
|
MONDO:0005313 |
| MONDO:0974162 |
solitary bone cyst, skull |
icd11.foundation:340774579 |
MONDO:equivalentTo |
Solitary bone cyst, skull |
|
MONDO:0019372 |
| MONDO:0974163 |
karyotype 46, x with abnormal sex chromosome, except iso xq |
icd11.foundation:341711617 |
MONDO:equivalentTo |
Karyotype 46, X with abnormal sex chromosome, except iso Xq |
|
MONDO:0019499 |
| MONDO:0974164 |
tusc3 congenital disorder of glycosylation |
icd11.foundation:341814458 |
MONDO:equivalentTo |
TUSC3 congenital disorder of glycosylation |
This refers to TUSC3 congenital disorder of the reaction in which a carbohydrate, i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another molecule (a glycosyl acceptor). |
MONDO:0017740 |
| MONDO:0974165 |
chronic ulcerative gingivitis |
icd11.foundation:342193365 |
MONDO:equivalentTo |
Chronic ulcerative gingivitis |
|
MONDO:0020782 |
| MONDO:0974166 |
subacute, chronic or recurrent vulvitis |
icd11.foundation:342653771 |
MONDO:equivalentTo |
Subacute, chronic or recurrent vulvitis |
|
MONDO:0007018 |
| MONDO:0974167 |
acute palmoplantar pustular psoriasis |
icd11.foundation:342952562 |
MONDO:equivalentTo |
Acute palmoplantar pustular psoriasis |
|
MONDO:0015597 |
| MONDO:0974168 |
delirium due to multiple etiological factors |
icd11.foundation:343480877 |
MONDO:equivalentTo |
Delirium due to multiple etiological factors |
All definitional requirements for delirium are met. There is evidence from history, physical examination, or laboratory findings that the delirium is attributable to multiple etiological factors, which may include disorders or diseases not classified under mental and behavioural disorders, substance intoxication or withdrawal, or a medication. |
MONDO:0045057 |
| MONDO:0974169 |
hyperplastic gastropathy |
icd11.foundation:343691629 |
MONDO:equivalentTo |
Hyperplastic gastropathy |
|
MONDO:0004966 |
| MONDO:0974170 |
molybdenum cofactor deficiency, complementation group b |
icd11.foundation:344434559 |
MONDO:equivalentTo |
Molybdenum cofactor deficiency, complementation group B |
|
MONDO:0020480 |
| MONDO:0974171 |
chronic palmoplantar pustular psoriasis |
icd11.foundation:345305826 |
MONDO:equivalentTo |
Chronic palmoplantar pustular psoriasis |
|
MONDO:0015597 |
| MONDO:0974172 |
distal duplications of the long arm of chromosome 16 |
icd11.foundation:345946426 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 16 |
|
MONDO:0016966 |
| MONDO:0974173 |
myopathy in hypopituitarism |
icd11.foundation:345981401 |
MONDO:equivalentTo |
Myopathy in hypopituitarism |
|
MONDO:0005152 |
| MONDO:0974174 |
pituitary obesity |
icd11.foundation:346394200 |
MONDO:equivalentTo |
Pituitary obesity |
|
MONDO:0015127 |
| MONDO:0974175 |
angular cheilitis exacerbated by mechanical factors |
icd11.foundation:346684585 |
MONDO:equivalentTo |
Angular cheilitis exacerbated by mechanical factors |
Angular cheilitis resulting from factors, principally loss of dentition, which reduce the vertical height between the underside of the mandible and the maxilla. Maceration of the resultant oblique folds of redundant skin at the corners of the mouth results from constant contamination with saliva. |
MONDO:0000741 |
| MONDO:0974176 |
alternating exotropia with a pattern |
icd11.foundation:346687148 |
MONDO:equivalentTo |
Alternating exotropia with A pattern |
Alternating exotropia with an A pattern is an abnormal binocular alignment in which one of the eyes alternately has an outward deviation. The additional descriptive feature of the presence of an A pattern is specified in which the eyes are less deviated in upgaze and more deviated in downgaze. |
MONDO:0001286 |
| MONDO:0974177 |
primary aphakia, unilateral |
icd11.foundation:347090116 |
MONDO:equivalentTo |
Primary aphakia, unilateral |
|
MONDO:0012456 |
| MONDO:0974178 |
juvenile polymyositis with interstitial lung disease |
icd11.foundation:347167071 |
MONDO:equivalentTo |
Juvenile polymyositis with interstitial lung disease |
Juvenile polymyositis with interstitial lung disease is a rare childhood idiopathic inflammatory myopathy complicated by a serious pulmonary complication commonly seen in patients with polymyositis (PM) and dermatomyositis (DM). The presence of interstitial lung disease affects the prognosis and requires a more aggressive approach in therapy. Patients presenting with fever tend to have a higher frequency of PM/DM-associated interstitial lung disease. |
MONDO:0019734 |
| MONDO:0974179 |
other specified forms of asthma or bronchospasm |
icd11.foundation:347173617 |
MONDO:equivalentTo |
Other specified forms of asthma or bronchospasm |
|
MONDO:0004979 |
| MONDO:0974180 |
abscess of thyroid |
icd11.foundation:347282868 |
MONDO:equivalentTo |
Abscess of thyroid |
|
MONDO:0001949 |
| MONDO:0974181 |
calcific tendinitis, hand |
icd11.foundation:348254527 |
MONDO:equivalentTo |
Calcific tendinitis, hand |
|
MONDO:0001903 |
| MONDO:0974182 |
macrosomia - obesity - macrocephaly - ocular abnormalities |
icd11.foundation:348695820 |
MONDO:equivalentTo |
Macrosomia - obesity - macrocephaly - ocular abnormalities |
|
MONDO:0019716 |
| MONDO:0974183 |
osteonecrosis due to trauma, vertebral column |
icd11.foundation:349756865 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, vertebral column |
|
MONDO:0018375 |
| MONDO:0974184 |
fibrosis of upper airways and oropharynx due to paracoccidioidomycosis |
icd11.foundation:350178770 |
MONDO:equivalentTo |
Fibrosis of upper airways and oropharynx due to paracoccidioidomycosis |
Permanent residual fibrosis of soft tissues of lips, oropharynx, larynx and trachea following paracoccidioidomycosis. This commonly results in microstomia, loss of teeth, hoarseness and tracheal stenosis. |
MONDO:0005894 |
| MONDO:0974185 |
igg4-related hypophysitis |
icd11.foundation:350378648 |
MONDO:equivalentTo |
IgG4-related hypophysitis |
|
MONDO:0021156 |
| MONDO:0974186 |
infection by diphyllobothrium latum |
icd11.foundation:350592451 |
MONDO:equivalentTo |
Infection by diphyllobothrium latum |
|
MONDO:0015260 |
| MONDO:0974187 |
acute duodenal ulcer |
icd11.foundation:351301964 |
MONDO:equivalentTo |
Acute duodenal ulcer |
|
MONDO:0005412 |
| MONDO:0974188 |
paraneoplastic cerebellar degeneration, neural autoantibody positive |
icd11.foundation:351394127 |
MONDO:equivalentTo |
Paraneoplastic cerebellar degeneration, neural autoantibody positive |
Paraneoplastic cerebellar degeneration seropositive for neural autoantibodies. When these neural antibodies target plasma membrane antigens they are effectors of injury (e.g. voltage gated potassium channel complex autoantibodies) through multiple effector mechanisms. However, when targeting nuclear or cytoplasmic antigens (e.g. Purkinje cell autoantibody type 1 [PCA-1 or anti-Yo] most frequently associated with ovarian tumours) they are markers of a T-cell effector mediated injury as they are inaccessible to immune attack in situ, but peptides from intracellular proteins are displayed on upregulated MHC class 1 molecules in a pro-inflammatory cytokine milieu and then accessible to peptide specific cytotoxic T-cells. |
MONDO:0044877 |
|
|
|
|
|
Associated neural autoantibodies include: |
|
|
|
|
|
|
ANNA-2(anti-Ri) (antineuronal nuclear autoantibody type 2); CRMP5(anti-CV2) (collapsin response mediator protein 5); mGluR1 (metabotropic glutamate receptor antibody type 1); GABABR (Gamma-aminobutyric-acid type-B autoantibodies); Ma1; Ma2; PCA-1(anti-Yo) (purkinje cell cytoplasmic autoantibody type 1); PCA-2 (purkinje cell cytoplasmic autoantibody type 2); PCA-Tr (purkinje cell autoantibody-Tr); |
|
| MONDO:0974189 |
adult-onset still disease, hand |
icd11.foundation:351903826 |
MONDO:equivalentTo |
Adult-onset Still disease, hand |
|
MONDO:0019355 |
| MONDO:0974190 |
benign tumour of posterior third of tongue |
icd11.foundation:35203517 |
MONDO:equivalentTo |
Benign tumour of posterior third of tongue |
|
MONDO:0021476 |
| MONDO:0974191 |
idiopathic junctional ectopic tachycardia |
icd11.foundation:352206700 |
MONDO:equivalentTo |
Idiopathic junctional ectopic tachycardia |
Tachycardia presenting after the first year of life not associated with open-heart surgery. This tachycardia usually presents in adolescence or in adulthood. |
MONDO:0017989 |
| MONDO:0974192 |
distal deletions of the short arm of chromosome 1 |
icd11.foundation:35229373 |
MONDO:equivalentTo |
Distal deletions of the short arm of chromosome 1 |
|
MONDO:0016883 |
| MONDO:0974193 |
cutaneous erythema multiforme |
icd11.foundation:352332054 |
MONDO:equivalentTo |
Cutaneous erythema multiforme |
Erythema multiforme confined to the skin and typically triggered by recurrent Herpes simplex infection. |
MONDO:0006545 |
| MONDO:0974194 |
congenital bile acid synthesis defect type 1 |
icd11.foundation:352753987 |
MONDO:equivalentTo |
Congenital bile acid synthesis defect type 1 |
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterised by variable manifestations of progressive cholestatic liver disease, and fat malabsorption, most patients having features of neonatal cholestasis. |
MONDO:0015581 |
| MONDO:0974195 |
myasthenia gravis, achr antibody positive |
icd11.foundation:353120348 |
MONDO:equivalentTo |
Myasthenia gravis, AChR antibody positive |
Acetylcholine receptor (AChR) positive Myasthenia Gravis (MG) is the most prevalent type of MG. The antibodies are directed against postsynaptic proteins, usually the nicotinic acetylcholine receptor, making up 80% of all generalised MG patients. Fluctuating weakness increasing with repeated activity and improving after a period of rest is the characteristic hallmark. Half of the ocular MG patients (manifesting with fluctuating ptosis and diplopia) are AChR positive. 90% of early-onset (<40-50 years) generalised MG patients, typically females, are positive for AChR antibodies and usually have thymus hyperplasia. Most late-onset patients (either male or female) are also AChR positive and have atrophic thymuses. |
MONDO:0009688 |
| MONDO:0974196 |
zellweger spectrum disorder, mild form |
icd11.foundation:353240590 |
MONDO:equivalentTo |
Zellweger spectrum disorder, mild form |
This is a rare congenital disorder, characterised by the reduction or absence of functional peroxisomes in the cells of an individual. This diagnosis is the mild form. |
MONDO:0019234 |
| MONDO:0974197 |
short segment hirschsprung disease |
icd11.foundation:35333878 |
MONDO:equivalentTo |
Short segment Hirschsprung disease |
A subtype of Hirschsprung disease. Short-segment disease is most common and is confined to the rectosigmoid region of the colon. |
MONDO:0018309 |
| MONDO:0974198 |
autosomal dominant proximal spinal muscular atrophy |
icd11.foundation:353473981 |
MONDO:equivalentTo |
Autosomal dominant proximal spinal muscular atrophy |
|
MONDO:0001516 |
| MONDO:0974199 |
benign adult nephropathic cystinosis |
icd11.foundation:353682788 |
MONDO:equivalentTo |
Benign adult nephropathic cystinosis |
|
MONDO:0016239 |
| MONDO:0974200 |
idiopathic aseptic osteonecrosis, pelvic region or thigh |
icd11.foundation:353796044 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, pelvic region or thigh |
|
MONDO:0018380 |
| MONDO:0974201 |
adrenal haemorrhage |
icd11.foundation:354341927 |
MONDO:equivalentTo |
Adrenal haemorrhage |
This refers to a haemorrhage of the tissue death (necrosis) caused by a local lack of oxygen, due to an obstruction of the tissue's blood supply. |
MONDO:0019801 |
| MONDO:0974202 |
acute nonepidemic poliomyelitis |
icd11.foundation:354733156 |
MONDO:equivalentTo |
Acute nonepidemic poliomyelitis |
|
MONDO:0017373 |
| MONDO:0974203 |
secondary hyperthyroidism |
icd11.foundation:355116695 |
MONDO:equivalentTo |
Secondary hyperthyroidism |
Overproduction of thyroid hormone in the thyroid gland induced by dysfunction of the pituitary gland or hypothalamus. |
MONDO:0010138 |
| MONDO:0974204 |
panniculitis, unspecified, ribs |
icd11.foundation:35688497 |
MONDO:equivalentTo |
Panniculitis, unspecified, ribs |
|
MONDO:0006591 |
| MONDO:0974205 |
gastritis due to duodenogastric reflux |
icd11.foundation:356971565 |
MONDO:equivalentTo |
Gastritis due to duodenogastric reflux |
Gastritis due to an excessive reflux of duodenal contents including bile into the stomach. |
MONDO:0004966 |
| MONDO:0974206 |
alagille syndrome type 1 |
icd11.foundation:357286966 |
MONDO:equivalentTo |
Alagille syndrome type 1 |
|
MONDO:0007318 |
| MONDO:0974207 |
glycogen storage disease due to muscle phosphoglycerate mutase deficiency |
icd11.foundation:357512951 |
MONDO:equivalentTo |
Glycogen storage disease due to muscle phosphoglycerate mutase deficiency |
Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. |
MONDO:0002412 |
| MONDO:0974208 |
chronic gonococcal prostatitis |
icd11.foundation:357597950 |
MONDO:equivalentTo |
Chronic gonococcal prostatitis |
|
MONDO:0021161 |
| MONDO:0974209 |
secondary hypertension, unspecified, without mention of hypertensive crisis |
icd11.foundation:358264249 |
MONDO:equivalentTo |
Secondary hypertension, unspecified, without mention of hypertensive crisis |
This is a type of hypertension which by definition is caused by an identifiable underlying secondary cause, unspecified, without mention of hypertensive crisis. |
MONDO:0001200 |
| MONDO:0974210 |
mitochondrial glutamate carrier 1 deficiency |
icd11.foundation:358582965 |
MONDO:equivalentTo |
Mitochondrial glutamate carrier 1 deficiency |
This is a deficiency predominantly expressed in the plasma membrane, allowing it to remove glutamate from the extracellular space. It has also been localised in the inner mitochondrial membrane as part of the malate-aspartate shuttle. |
MONDO:0016801 |
| MONDO:0974211 |
dermatophytosis due to zoophilic dermatophytes |
icd11.foundation:359247398 |
MONDO:equivalentTo |
Dermatophytosis due to zoophilic dermatophytes |
Infection by dermatophytes which normally infect mammals other than man. When they do infect man they often induce a marked inflammatory reaction. |
MONDO:0004678 |
| MONDO:0974212 |
monostotic fibrous dysplasia, skull |
icd11.foundation:360472929 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, skull |
|
MONDO:0019665 |
| MONDO:0974213 |
refractory anaemia with hemochromatosis |
icd11.foundation:360869821 |
MONDO:equivalentTo |
Refractory anaemia with hemochromatosis |
|
MONDO:0019157 |
| MONDO:0974214 |
glycogen storage disease due to branching-transferase deficiency |
icd11.foundation:36127628 |
MONDO:equivalentTo |
Glycogen storage disease due to branching-transferase deficiency |
|
MONDO:0002412 |
| MONDO:0974215 |
persistent hyperplastic primary vitreous, bilateral |
icd11.foundation:361970035 |
MONDO:equivalentTo |
Persistent hyperplastic primary vitreous, bilateral |
|
MONDO:0019631 |
| MONDO:0974216 |
non-convulsive status epilepticus |
icd11.foundation:36262213 |
MONDO:equivalentTo |
Non-convulsive status epilepticus |
Non-convulsive status epilepticus is defined as 5 min or more of (i) continuous clinical and/or electrographic seizure activity or (ii) recurrent seizure activity without recovery (returning to baseline) between seizures. |
MONDO:0002125 |
| MONDO:0974217 |
non-cirrhotic portal fibrosis |
icd11.foundation:362761090 |
MONDO:equivalentTo |
Non-cirrhotic portal fibrosis |
|
MONDO:0005080 |
| MONDO:0974218 |
18p duplication |
icd11.foundation:362808329 |
MONDO:equivalentTo |
18p duplication |
|
MONDO:0015740 |
| MONDO:0974219 |
neuroendocrine carcinoma of pancreas |
icd11.foundation:362948338 |
MONDO:equivalentTo |
Neuroendocrine carcinoma of pancreas |
An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma. |
MONDO:0005815 |
| MONDO:0974220 |
ranula of salivary gland of floor of mouth |
icd11.foundation:36349486 |
MONDO:equivalentTo |
Ranula of salivary gland of floor of mouth |
|
MONDO:0001600 |
| MONDO:0974221 |
necrosis of pituitary gland |
icd11.foundation:363939945 |
MONDO:equivalentTo |
Necrosis of pituitary gland |
|
MONDO:0005152 |
| MONDO:0974222 |
typhoid peritonitis |
icd11.foundation:364534567 |
MONDO:equivalentTo |
Typhoid peritonitis |
|
MONDO:0005619 |
| MONDO:0974223 |
pseudo-cushing syndrome |
icd11.foundation:364545435 |
MONDO:equivalentTo |
Pseudo-Cushing syndrome |
This is a condition in which patients display the signs, symptoms, and abnormal hormone levels seen in Cushing's syndrome. However, pseudo-Cushing's syndrome is not caused by a problem with the hypothalamic-pituitary-adrenal axis as Cushing's is; it is an idiopathic condition. |
MONDO:0018912 |
| MONDO:0974224 |
proximal duplications of the short arm of chromosome 7 |
icd11.foundation:364617972 |
MONDO:equivalentTo |
Proximal duplications of the short arm of chromosome 7 |
|
MONDO:0016944 |
| MONDO:0974225 |
short-lasting unilateral neuralgiform headache attacks with conjunctival injection or tearing |
icd11.foundation:364704393 |
MONDO:equivalentTo |
Short-lasting unilateral neuralgiform headache attacks with conjunctival injection or tearing |
Attacks of moderate or severe, strictly unilateral head pain lasting seconds to minutes, occurring at least once a day and associated with prominent lacrimation and redness of the ipsilateral eye. |
MONDO:0015530 |
| MONDO:0974226 |
vulvovaginal ulceration and inflammation |
icd11.foundation:364777682 |
MONDO:equivalentTo |
Vulvovaginal ulceration and inflammation |
|
MONDO:0007018 |
| MONDO:0974227 |
proximal deletions of the long arm of chromosome 8 |
icd11.foundation:365863418 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 8 |
|
MONDO:0016907 |
| MONDO:0974228 |
restrictive cardiomyopathy due to anthracycline toxicity |
icd11.foundation:366553001 |
MONDO:equivalentTo |
Restrictive cardiomyopathy due to anthracycline toxicity |
|
MONDO:0016345 |
| MONDO:0974229 |
corneal necrosis |
icd11.foundation:367208257 |
MONDO:equivalentTo |
Corneal necrosis |
|
MONDO:0001515 |
| MONDO:0974230 |
infantile spinal muscular atrophy with respiratory distress type 1 |
icd11.foundation:368492087 |
MONDO:equivalentTo |
Infantile spinal muscular atrophy with respiratory distress type 1 |
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a disorder that causes muscle weakness and respiratory failure. Onset of symptoms is typically in early infancy with respiratory difficulties and stridor, feeding difficulties and weak cry. Respiratory failure usually develops between 1 and 6 months of age secondary to diaphragmatic weakness. Progressive distal limb weakness follows. Sensory and autonomic nerves are also affected. SMARD1 is caused by homozygous mutations in the gene encoding the immunoglobulin micro-binding protein 2 (IGHMBP2, 11q13.3). |
MONDO:0009669 |
| MONDO:0974231 |
juvenile psoriatic arthritis, lower leg |
icd11.foundation:369608265 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, lower leg |
|
MONDO:0019436 |
| MONDO:0974232 |
myotonia congenita, dominant |
icd11.foundation:370025964 |
MONDO:equivalentTo |
Myotonia congenita, dominant |
Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. |
MONDO:0016121 |
| MONDO:0974233 |
cephalothoracopagus |
icd11.foundation:370277430 |
MONDO:equivalentTo |
Cephalothoracopagus |
A condition characterised as conjoined twins that are united at the front of the upper half of the body with two faces on the conjoined head. |
MONDO:0958083 |
| MONDO:0974234 |
latent syphilis, unspecified as early or late |
icd11.foundation:370440252 |
MONDO:equivalentTo |
Latent syphilis, unspecified as early or late |
A disease caused by an infection with the gram-negative bacteria Treponema pallidum pallidum. This disease is characterised by serologic proof of infection without symptoms of disease. Transmission is commonly by sexual contact. |
MONDO:0005976 |
| MONDO:0974235 |
limb-girdle muscular dystrophy 2b, dysferlin deficiency |
icd11.foundation:370913678 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2B, dysferlin deficiency |
Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2B is a type of LGMD, a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved, and is characterised by little shoulder girdle involvement and calf involvement. |
MONDO:0015152 |
| MONDO:0974236 |
nonlactational abscess |
icd11.foundation:371763541 |
MONDO:equivalentTo |
Nonlactational abscess |
Breast infection in nonlactating women |
MONDO:0000749 |
| MONDO:0974237 |
proximal deletions of the long arm of chromosome 3 |
icd11.foundation:371877911 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 3 |
|
MONDO:0016902 |
| MONDO:0974238 |
cryptosporidial colitis |
icd11.foundation:371890567 |
MONDO:equivalentTo |
Cryptosporidial colitis |
This refers to an infection of the large intestine with a genus of protozoans, Cryptosporidium that causes diarrhoea in humans. |
MONDO:0015474 |
| MONDO:0974239 |
chondromalacia, shoulder region |
icd11.foundation:372560100 |
MONDO:equivalentTo |
Chondromalacia, shoulder region |
|
MONDO:0002342 |
| MONDO:0974240 |
endometriosis of urinary system |
icd11.foundation:372861747 |
MONDO:equivalentTo |
Endometriosis of urinary system |
|
MONDO:0005133 |
| MONDO:0974241 |
combined oxidative phosphorylation deficiency type 5 |
icd11.foundation:373222828 |
MONDO:equivalentTo |
Combined oxidative phosphorylation deficiency type 5 |
Combined oxidative phosphorylation deficiency type 5 is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene, encoding a mitochondrial ribosomal protein. |
MONDO:0000732 |
| MONDO:0974242 |
cannabis dependence, current use |
icd11.foundation:373645975 |
MONDO:equivalentTo |
Cannabis dependence, current use |
Current cannabis dependence with use of cannabis within the past month. |
MONDO:0005689 |
| MONDO:0974243 |
infantile nephropathic cystinosis |
icd11.foundation:373867337 |
MONDO:equivalentTo |
Infantile nephropathic cystinosis |
|
MONDO:0016239 |
| MONDO:0974244 |
skeletal fluorosis, lower leg |
icd11.foundation:373956944 |
MONDO:equivalentTo |
Skeletal fluorosis, lower leg |
|
MONDO:0400003 |
| MONDO:0974245 |
haemoglobin e beta thalassaemia |
icd11.foundation:374273880 |
MONDO:equivalentTo |
Haemoglobin E beta thalassaemia |
Haemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia. |
MONDO:0019402 |
| MONDO:0974246 |
irreversible pulpitis |
icd11.foundation:374765210 |
MONDO:equivalentTo |
Irreversible pulpitis |
|
MONDO:0006937 |
| MONDO:0974247 |
parachute malformation of mitral valve |
icd11.foundation:375324402 |
MONDO:equivalentTo |
Parachute malformation of mitral valve |
A congenital cardiac malformation in which the chords of the mitral valve attach to a single or to closely adjacent papillary muscles. |
MONDO:0015109 |
| MONDO:0974248 |
beriberi neuropathy |
icd11.foundation:375454184 |
MONDO:equivalentTo |
Beriberi neuropathy |
|
MONDO:0006676 |
| MONDO:0974249 |
panniculitis, unspecified, vertebral column |
icd11.foundation:376305521 |
MONDO:equivalentTo |
Panniculitis, unspecified, vertebral column |
|
MONDO:0006591 |
| MONDO:0974250 |
probable rabies |
icd11.foundation:376855975 |
MONDO:equivalentTo |
Probable rabies |
|
MONDO:0019173 |
| MONDO:0974251 |
unspecified frostbite of leg |
icd11.foundation:378499916 |
MONDO:equivalentTo |
Unspecified frostbite of leg |
|
MONDO:0800177 |
| MONDO:0974252 |
dermoid cyst with secondary tumour of ovary |
icd11.foundation:378805327 |
MONDO:equivalentTo |
Dermoid cyst with secondary tumour of ovary |
|
MONDO:0008170 |
| MONDO:0974253 |
complement component c1q deficiency |
icd11.foundation:379279224 |
MONDO:equivalentTo |
Complement component C1q deficiency |
|
MONDO:0015699 |
| MONDO:0974254 |
chronic periodontitis simplex |
icd11.foundation:380184384 |
MONDO:equivalentTo |
Chronic periodontitis simplex |
|
MONDO:0005593 |
| MONDO:0974255 |
congenital arteriovenous cerebral aneurysm |
icd11.foundation:381195617 |
MONDO:equivalentTo |
Congenital arteriovenous cerebral aneurysm |
|
MONDO:0007154 |
| MONDO:0974256 |
periodic paralysis 2 |
icd11.foundation:381273009 |
MONDO:equivalentTo |
Periodic paralysis 2 |
|
MONDO:0008223 |
| MONDO:0974257 |
tuberculous appendicitis |
icd11.foundation:381331990 |
MONDO:equivalentTo |
Tuberculous appendicitis |
|
MONDO:0957466 |
| MONDO:0974258 |
diabetes mellitus, other specified type |
icd11.foundation:381961554 |
MONDO:equivalentTo |
Diabetes mellitus, other specified type |
Diabetes mellitus which cannot be classified as either Type 1 or Type 2 diabetes mellitus. |
MONDO:0005015 |
| MONDO:0974259 |
dyserythropoietic anaemia with thrombocytopenia |
icd11.foundation:383332048 |
MONDO:equivalentTo |
Dyserythropoietic anaemia with thrombocytopenia |
This syndrome is characterised by dyserythropoietic anaemia and thrombocytopaenia. The prevalence is unknown but the disease appears to be very rare. Affected individuals display paucity of the platelets, dysmorphic erythrocytes (poikilocytosis and anisocytosis), defective megakaryocyte maturation and cytoplasmic membrane system abnormalities. Cryptorchidism has also been reported. The syndrome is caused by a mutation in the GATA1 gene, a transcription factor required for normal erythroid and megakaryocytic differentiation. Transmission is X-linked. |
MONDO:0019403 |
| MONDO:0974260 |
benign neoplasm of lingual tonsil |
icd11.foundation:383343481 |
MONDO:equivalentTo |
Benign neoplasm of lingual tonsil |
|
MONDO:0021476 |
| MONDO:0974261 |
congenital bile acid synthesis defect type 2 |
icd11.foundation:383380992 |
MONDO:equivalentTo |
Congenital bile acid synthesis defect type 2 |
Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterised by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. |
MONDO:0015581 |
| MONDO:0974262 |
tonsillopharyngeal abscess |
icd11.foundation:384188880 |
MONDO:equivalentTo |
Tonsillopharyngeal abscess |
|
MONDO:0005906 |
| MONDO:0974263 |
latex-induced anaphylaxis |
icd11.foundation:38429167 |
MONDO:equivalentTo |
Latex-induced anaphylaxis |
Anaphylaxis attributable to contact with latex allergens. Rapidly progressive, multi-system and potentially life-threatening reaction to exposure to latex allergen to which the affected individual has previously been sensitized. When severe it may be fatal. This systemic reaction usually develops within minutes to hours of inhaled or direct contact with latex allergens, which are listed as the main causes of preoperative anaphylaxis and occupational anaphylaxis. Clinically there may be manifested by dizziness or faintness, skin tingling and erythema, followed by urticaria, angio-oedema, bronchospasm, abdominal pain and vasomotor collapse. |
MONDO:0100053 |
| MONDO:0974264 |
anorexia nervosa in recovery with normal body weight |
icd11.foundation:38433871 |
MONDO:equivalentTo |
Anorexia Nervosa in recovery with normal body weight |
Among individuals who are recovering from Anorexia Nervosa and whose body weight is more than 18.5 kg/m2 for adults or over the fifth percentile for BMI-for-age for children and adolescents, the diagnosis should be retained until a full and lasting recovery is achieved, as indicated by the maintenance of a healthy weight and the cessation of behaviours aimed at reducing body weight independent of the provision of treatment (e.g., for at least 1 year after intensive treatment is withdrawn). |
MONDO:0005351 |
| MONDO:0974265 |
rhinocerebral mucormycosis |
icd11.foundation:385014776 |
MONDO:equivalentTo |
Rhinocerebral mucormycosis |
This is any fungal infection caused by fungi in the order Mucorales. Generally, species in the Mucor, Rhizopus, Absidia, and Cunninghamella genera are most often implicated. This disease is often characterised by hyphae growing in and around vessels. This diagnosis is rhinocerebral. |
MONDO:0019136 |
| MONDO:0974266 |
invasive ocular aspergillosis |
icd11.foundation:385455577 |
MONDO:equivalentTo |
Invasive ocular aspergillosis |
|
MONDO:0000240 |
| MONDO:0974267 |
congenital extrahepatic portosystemic shunt |
icd11.foundation:385708613 |
MONDO:equivalentTo |
Congenital extrahepatic portosystemic shunt |
Congenital extrahepatic portosystemic shunt, also known as Abernethy malformation, is a rare malformation in which intestinal and splenic venous blood bypasses the liver and drains into systemic veins, such as renal, hepatic veins or the inferior vena cava (IVC). Abernethy malformation can be subdivided into two types. In type I, there is complete diversion of portal blood into the IVC and the extrahepatic portal vein is absent, whereas in type II, there is partial portal flow to the liver through a hypoplastic portal vein. Subvariants of both types exist. |
MONDO:0018811 |
| MONDO:0974268 |
agel amyloidosis |
icd11.foundation:386093751 |
MONDO:equivalentTo |
AGel amyloidosis |
|
MONDO:0018634 |
| MONDO:0974269 |
delusional disorder, currently symptomatic |
icd11.foundation:386634703 |
MONDO:equivalentTo |
Delusional disorder, currently symptomatic |
All definitional requirements for Delusional disorder in terms of symptoms and duration are currently met, or have been met within the past one month. |
MONDO:0004359 |
| MONDO:0974270 |
paroxysmal dystonic choreoathetosis with episodic ataxia or spasticity |
icd11.foundation:387202586 |
MONDO:equivalentTo |
Paroxysmal dystonic choreoathetosis with episodic ataxia or spasticity |
|
MONDO:0016058 |
| MONDO:0974271 |
pectoralis minor syndrome |
icd11.foundation:387458278 |
MONDO:equivalentTo |
Pectoralis minor syndrome |
|
MONDO:0005979 |
| MONDO:0974272 |
stress ulcer of stomach |
icd11.foundation:387848341 |
MONDO:equivalentTo |
Stress ulcer of stomach |
Stress ulcers of stomach are acute mucosal lesions occurring in critically ill patients that may result in acute upper gastrointestinal bleeding. They are usually superficial erosions but can develop into ulcers. Stress ulcers of stomach may develop anywhere within the stomach but are more likely to occur in fundic mucosa, which lines the body and fundus of the stomach. |
MONDO:0001126 |
| MONDO:0974273 |
cataract - ataxia - deafness |
icd11.foundation:388815795 |
MONDO:equivalentTo |
Cataract - ataxia - deafness |
Cataract - ataxia - deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. |
MONDO:0019589 |
| MONDO:0974274 |
amelogenesis imperfecta - cone rod dystrophy |
icd11.foundation:389476366 |
MONDO:equivalentTo |
Amelogenesis imperfecta - cone rod dystrophy |
Jalili syndrome is a genetic disorder characterised by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy . |
MONDO:0019507 |
| MONDO:0974275 |
postmenopausal osteoporosis, multiple sites |
icd11.foundation:390249363 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, multiple sites |
|
MONDO:0008159 |
| MONDO:0974276 |
acute st elevation myocardial infarction |
icd11.foundation:391388807 |
MONDO:equivalentTo |
Acute ST elevation myocardial infarction |
STEMI is an acute myocardial infarction with developing ST elevation in two contiguous leads. The criteria of ST elevation are as follows: New ST elevation at the J point in two contiguous leads where these cut points apply: 0.2mV in men > 40 years, > 0.25mV in men < 40 years, and > 0.15 mV in women. |
MONDO:0004781 |
| MONDO:0974277 |
autosomal recessive muscular dystrophy, childhood type, resembling becker muscular dystrophy |
icd11.foundation:391677057 |
MONDO:equivalentTo |
Autosomal recessive muscular dystrophy, childhood type, resembling Becker muscular dystrophy |
Childhood autosomal recessive muscular dystrophy resembling Becker disease is a rare condition characterised by muscular dystrophy with mild, Becker-like progression, affecting both sexes equally. It refers to a genetically heterogeneous group of disorders in which different molecular and biochemical defects present with a similar phenotype. Most patients have defects in one of the four sarcoglycan genes identified to date. |
MONDO:0010311 |
| MONDO:0974278 |
transient global amnesia, complete resolution within 1 to 24 hours |
icd11.foundation:391837836 |
MONDO:equivalentTo |
Transient global amnesia, complete resolution within 1 to 24 hours |
|
MONDO:0001617 |
| MONDO:0974279 |
hereditary agammaglobulinaemia with profoundly reduced or absent b cells |
icd11.foundation:393046642 |
MONDO:equivalentTo |
Hereditary agammaglobulinaemia with profoundly reduced or absent B cells |
This refers to a hereditary type of primary immune deficiency disease characterised by a reduction in all types of gamma globulins, and rare X-linked genetic disorder that affects the body's ability to fight infection. |
MONDO:0015132 |
| MONDO:0974280 |
hyperplastic polyp of large intestine |
icd11.foundation:393185699 |
MONDO:equivalentTo |
Hyperplastic polyp of large intestine |
Hyperplastic polyps are truly benign growths, possessing no potential for progression to colorectal cancer. Hyperplastic polyps pathologically lack dysplasia. |
MONDO:0021392 |
| MONDO:0974281 |
primary yaws |
icd11.foundation:3933330 |
MONDO:equivalentTo |
Primary yaws |
Primary yaws results from primary inoculation of Treponema pallidum subsp. pertenue into the skin, manifesting 2-12 weeks later as a localised papule (initial, primary or mother' yaw) before developing into a large non-tender ulcerating nodule, often resembling a raspberry (hence the name framboesia). The primary lesion is most commonly located on the legs and ankles may also be found on the buttocks, arms, hands, and face. It usually heals after 36 months and is still present at the onset of the secondary stage in only a minority (9-15%). |
MONDO:0006019 |
| MONDO:0974282 |
cerebral cryptococcosis |
icd11.foundation:393575368 |
MONDO:equivalentTo |
Cerebral cryptococcosis |
A disease of the central nervous system, caused by an infection with the fungi Cryptococcus neoformans or Cryptococcus gattii. This disease is characterised by fever, headache, lethargy, or neurological deficits. Transmission is by inhalation of fungal spores. Confirmation is by identification of Cryptococcus neoformans or Cryptococcus gattii in a blood, sputum, or cerebrospinal fluid sample. |
MONDO:0005724 |
| MONDO:0974283 |
atresia of nostril |
icd11.foundation:393662061 |
MONDO:equivalentTo |
Atresia of nostril |
|
MONDO:0015503 |
| MONDO:0974284 |
small fibre neuropathy, not elsewhere classified |
icd11.foundation:394034346 |
MONDO:equivalentTo |
Small fibre neuropathy, not elsewhere classified |
|
MONDO:0001824 |
| MONDO:0974285 |
congenital ectropion, bilateral |
icd11.foundation:394095143 |
MONDO:equivalentTo |
Congenital ectropion, bilateral |
This is an eversion of the edges of eyelids that occurs in both eyes and is present since birth, resulting in the exposure of the palpebral conjunctiva. |
MONDO:0020161 |
| MONDO:0974286 |
allergic dermatitis of eyelid |
icd11.foundation:394493841 |
MONDO:equivalentTo |
Allergic dermatitis of eyelid |
|
MONDO:0002137 |
| MONDO:0974287 |
nondiabetic necrobiosis lipoidica |
icd11.foundation:395127236 |
MONDO:equivalentTo |
Nondiabetic necrobiosis lipoidica |
Necrobiosis lipoidica not associated with diabetes mellitus or impaired glucose regulation. |
MONDO:0006583 |
| MONDO:0974288 |
crohn disease of both small and large intestine |
icd11.foundation:395324298 |
MONDO:equivalentTo |
Crohn disease of both small and large intestine |
Crohn disease, which is characterised by chronic and relapsing transmural inflammation, may affect any part of the digestive tract. This refers to Crohn disease involved in both small and large intestine. |
MONDO:0005011 |
| MONDO:0974289 |
adult dermatomyositis with overlap to nonorgan specific systemic autoimmune disorders |
icd11.foundation:395645359 |
MONDO:equivalentTo |
Adult dermatomyositis with overlap to nonorgan specific systemic autoimmune disorders |
|
MONDO:0001907 |
| MONDO:0974290 |
primary achalasia |
icd11.foundation:396058084 |
MONDO:equivalentTo |
Primary achalasia |
Idiopathic achalasia is a primary oesophageal motor disorder characterised by oesophageal aperistalsis and an absence of lower oesophageal sphincter (LES) relaxation in response to deglutition. It is characterised predominantly by dysphagia to solids and liquids, bland regurgitation, and chest pain. |
MONDO:0008698 |
| MONDO:0974291 |
disorders of iron metabolism |
icd11.foundation:396058882 |
MONDO:equivalentTo |
Disorders of iron metabolism |
This refers to any disorders of the set of chemical reactions maintaining human homeostasis of iron. The control of this necessary but potentially toxic substance is an important part of many aspects of human health and disease. |
MONDO:0017761 |
| MONDO:0974292 |
female heterosexual precocious pseudopuberty |
icd11.foundation:396143422 |
MONDO:equivalentTo |
Female heterosexual precocious pseudopuberty |
|
MONDO:0015898 |
| MONDO:0974293 |
adult-onset still disease, upper arm |
icd11.foundation:39648852 |
MONDO:equivalentTo |
Adult-onset Still disease, upper arm |
|
MONDO:0019355 |
| MONDO:0974294 |
transient congenital hypothyroidism due to neonatal iodine deficiency or excess |
icd11.foundation:396689178 |
MONDO:equivalentTo |
Transient congenital hypothyroidism due to neonatal iodine deficiency or excess |
This is a transient congenital state in which the thyroid gland does not make enough thyroid hormone. This diagnosis is due to neonatal iodine deficiency or excess. |
MONDO:0015792 |
| MONDO:0974295 |
proliferative diabetic retinopathy with combined rhegmatogenous and tractional retinal detachment |
icd11.foundation:397712403 |
MONDO:equivalentTo |
Proliferative diabetic retinopathy with combined rhegmatogenous and tractional retinal detachment |
|
MONDO:0001660 |
| MONDO:0974296 |
congenital achalasia |
icd11.foundation:398153442 |
MONDO:equivalentTo |
Congenital achalasia |
This is a congenital form of primary achalasia, an oesophageal motility disorder characterised by degeneration of the nerve cells that normally signal the brain to relax the lower oesophageal sphincter (LES). |
MONDO:0019513 |
| MONDO:0974297 |
acute methadone intoxication |
icd11.foundation:399617150 |
MONDO:equivalentTo |
Acute methadone intoxication |
|
MONDO:0018173 |
| MONDO:0974298 |
acne artificialis |
icd11.foundation:400869375 |
MONDO:equivalentTo |
Acne artificialis |
|
MONDO:0011438 |
| MONDO:0974299 |
osteoporosis, neck |
icd11.foundation:400869412 |
MONDO:equivalentTo |
Osteoporosis, neck |
|
MONDO:0005298 |
| MONDO:0974300 |
ectodermal dysplasia - arthrogryposis - diabetes mellitus |
icd11.foundation:401287487 |
MONDO:equivalentTo |
Ectodermal dysplasia - arthrogryposis - diabetes mellitus |
|
MONDO:0019287 |
| MONDO:0974301 |
calcific tendinitis, upper arm |
icd11.foundation:40152895 |
MONDO:equivalentTo |
Calcific tendinitis, upper arm |
|
MONDO:0001903 |
| MONDO:0974302 |
severe personality disorder |
icd11.foundation:40156192 |
MONDO:equivalentTo |
Severe personality disorder |
All general diagnostic requirements for Personality Disorder are met. There are severe disturbances in functioning of the self (e.g., sense of self may be so unstable that individuals report not having a sense of who they are or so rigid that they refuse to participate in any but an extremely narrow range of situations; self view may be characterised by self-contempt or be grandiose or highly eccentric). Problems in interpersonal functioning seriously affect virtually all relationships and the ability and willingness to perform expected social and occupational roles is absent or severely compromised. Specific manifestations of personality disturbance are severe and affect most, if not all, areas of personality functioning. Severe Personality Disorder is often associated with harm to self or others, and is associated with severe impairment in all or nearly all areas of life, including personal, family, social, educational, occupational, and other important areas of functioning. |
MONDO:0002028 |
| MONDO:0974303 |
oligoarticular psoriatic arthritis |
icd11.foundation:401596570 |
MONDO:equivalentTo |
Oligoarticular psoriatic arthritis |
|
MONDO:0011849 |
| MONDO:0974304 |
lingual tonsil abscess |
icd11.foundation:401721268 |
MONDO:equivalentTo |
Lingual tonsil abscess |
|
MONDO:0005906 |
| MONDO:0974305 |
abscess of iris |
icd11.foundation:40183010 |
MONDO:equivalentTo |
Abscess of iris |
|
MONDO:0006651 |
| MONDO:0974306 |
juvenile macular degeneration - hypotrichosis |
icd11.foundation:402241160 |
MONDO:equivalentTo |
Juvenile macular degeneration - hypotrichosis |
Hypotrichosis with juvenile macular degeneration is a very rare syndrome characterised by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. |
MONDO:0019287 |
| MONDO:0974307 |
congenital muscular dystrophy without central nervous system symptoms |
icd11.foundation:402445629 |
MONDO:equivalentTo |
Congenital muscular dystrophy without central nervous system symptoms |
Pure forms of congenital muscular dystrophies with very variable pattern of evolution, classically without any involvement of the central nervous system. |
MONDO:0019950 |
| MONDO:0974308 |
benign neoplasm of internal upper lip |
icd11.foundation:402657110 |
MONDO:equivalentTo |
Benign neoplasm of internal upper lip |
|
MONDO:0021496 |
| MONDO:0974309 |
methaemoglobin reductase deficiency haemoglobinopathy |
icd11.foundation:403052171 |
MONDO:equivalentTo |
Methaemoglobin reductase deficiency haemoglobinopathy |
A disease caused by a genetically inherited mutation leading to lack of the enzyme methemoglobin reductase. This disease is characterised by elevated levels of methemoglobin within the blood. This disease may present with cyanosis in homozygous cases. Heterozygous cases present with no clinical abnormalities. Confirmation is by verification of genetic mutation by genetic testing. |
MONDO:0018963 |
| MONDO:0974310 |
acute appendicitis |
icd11.foundation:40398753 |
MONDO:equivalentTo |
Acute appendicitis |
Acute inflammation and enlargement of the vermiform appendix. It has been recognised as one of the most common causes of severe acute abdominal pain worldwide. Most cases require appropriate medical treatment or removal of the inflamed appendix. If untreated, mortality is high, mainly because of the risk of rupture leading to peritonitis and shock. In this category acute appendicitis only due to common bacterial infection is included, and appendicitis due to specific organisms is ruled out from here, and described elsewhere. |
MONDO:0005649 |
| MONDO:0974311 |
tuberculosis of large intestine |
icd11.foundation:404038772 |
MONDO:equivalentTo |
Tuberculosis of large intestine |
|
MONDO:0957466 |
| MONDO:0974312 |
anaphylaxis due to contact with allergens |
icd11.foundation:404632018 |
MONDO:equivalentTo |
Anaphylaxis due to contact with allergens |
Anaphylaxis resulting from skin or mucosal contact with a substance or substances capable of inducing IgE-mediated response in patients previously sensitized. |
MONDO:0100053 |
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|
Use additional external cause code, if desired, to identify agent. |
|
| MONDO:0974313 |
infection-associated anterior uveitis |
icd11.foundation:404886274 |
MONDO:equivalentTo |
Infection-associated anterior uveitis |
|
MONDO:0006651 |
| MONDO:0974314 |
adrenal pseudohermaphroditism |
icd11.foundation:405523149 |
MONDO:equivalentTo |
Adrenal pseudohermaphroditism |
|
MONDO:0015898 |
| MONDO:0974315 |
intermittent hydrarthrosis, vertebral column |
icd11.foundation:405611247 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, vertebral column |
|
MONDO:0018015 |
| MONDO:0974316 |
cubitus varus |
icd11.foundation:40594234 |
MONDO:equivalentTo |
Cubitus varus |
|
MONDO:0017429 |
| MONDO:0974317 |
dermatophytosis due to anthropophilic dermatophytes |
icd11.foundation:406510021 |
MONDO:equivalentTo |
Dermatophytosis due to anthropophilic dermatophytes |
Infection by keratinophilic fungi which are specific to Homo sapiens. |
MONDO:0004678 |
| MONDO:0974318 |
tertiary yaws |
icd11.foundation:406586413 |
MONDO:equivalentTo |
Tertiary yaws |
Tertiary yaws develops in <10% of untreated infected individuals after and interval of 5 years or more. The late stage skin lesions are characterised by gummatous nodules with necrotic tissue destruction, followed by debilitating scarring and contracture. Destructive osteitis can result in ulceration of the palate and nasopharynx (gangosa), or bowing of the tibia (sabre shins). Hypertrophic periostitis at periarticular sites can lead to exostosis of the paranasal maxillae (goundou). |
MONDO:0006019 |
| MONDO:0974319 |
fetal nephrocalcinosis |
icd11.foundation:406593813 |
MONDO:equivalentTo |
Fetal nephrocalcinosis |
|
MONDO:0001567 |
| MONDO:0974320 |
morphine intoxication |
icd11.foundation:406939138 |
MONDO:equivalentTo |
Morphine intoxication |
|
MONDO:0018173 |
| MONDO:0974321 |
myoclonus - cerebellar ataxia - deafness |
icd11.foundation:40732808 |
MONDO:equivalentTo |
Myoclonus - cerebellar ataxia - deafness |
Myoclonus - cerebellar ataxia - deafness syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. |
MONDO:0019589 |
| MONDO:0974322 |
faucitis |
icd11.foundation:407800318 |
MONDO:equivalentTo |
Faucitis |
|
MONDO:0020600 |
| MONDO:0974323 |
b lymphoblastic leukaemia or lymphoma with hyperdiploidy |
icd11.foundation:409224646 |
MONDO:equivalentTo |
B lymphoblastic leukaemia or lymphoma with hyperdiploidy |
A precursor lymphoid neoplasm composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. It has a favorable clinical outcome. |
MONDO:0020511 |
| MONDO:0974324 |
fetal isotretinoin syndrome |
icd11.foundation:409507920 |
MONDO:equivalentTo |
Fetal isotretinoin syndrome |
Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, a drug marketed for the treatment of cystic acne. The risk of malformations after exposure to oral isotretinoin has been evaluated to be around 20%. The affected infants may present hydrocephalus, microcephaly, ear malformations, conotruncal heart defects and limb abnormalities. There is also increased risk of spontaneous abortion and premature delivery. Isotretinoin may also have effects on child behaviour. |
MONDO:0016677 |
| MONDO:0974325 |
dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency |
icd11.foundation:409877897 |
MONDO:equivalentTo |
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ij is characterised by severe psychomotor delay, seizures, hypotonia and dysmorphism (microcephaly, ocular exotropia, micrognathia and clinodactyly). To date, it has been reported in one girl. The syndrome is caused by a mutation in the gene (localised to the q23.3 region of chromosome 11) encoding the endoplasmic reticulum enzyme UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase (DPAGT1). |
MONDO:0017740 |
| MONDO:0974326 |
high-flow priapism |
icd11.foundation:410014798 |
MONDO:equivalentTo |
High-flow priapism |
Non-ischaemic, non-painful priapism caused by pathologic arterial-al influx to the cavernosal bodies, mainly caused by trauma with arterial laceration. |
MONDO:0004745 |
| MONDO:0974327 |
skeletal fluorosis, ribs |
icd11.foundation:410016595 |
MONDO:equivalentTo |
Skeletal fluorosis, ribs |
|
MONDO:0400003 |
| MONDO:0974328 |
drug-induced osteoporosis, forearm |
icd11.foundation:410268343 |
MONDO:equivalentTo |
Drug-induced osteoporosis, forearm |
|
MONDO:0024650 |
| MONDO:0974329 |
panniculitis, unspecified, hand |
icd11.foundation:410563918 |
MONDO:equivalentTo |
Panniculitis, unspecified, hand |
|
MONDO:0006591 |
| MONDO:0974330 |
scedosporium prolificans infection |
icd11.foundation:41131945 |
MONDO:equivalentTo |
Scedosporium prolificans infection |
|
MONDO:0018668 |
| MONDO:0974331 |
deafness - optic atrophy syndrome |
icd11.foundation:412176667 |
MONDO:equivalentTo |
Deafness - optic atrophy syndrome |
Autosomal dominant optic atrophy and congenital deafness is a form of autosomal dominant optic atrophy, characterised by congenital severe deafness and progressive mid-life visual failure. |
MONDO:0016797 |
| MONDO:0974332 |
psoriatic arthritis, hand |
icd11.foundation:412317684 |
MONDO:equivalentTo |
Psoriatic arthritis, hand |
|
MONDO:0011849 |
| MONDO:0974333 |
autosomal recessive muscular dystrophy, childhood type, resembling duchenne muscular dystrophy |
icd11.foundation:412357697 |
MONDO:equivalentTo |
Autosomal recessive muscular dystrophy, childhood type, resembling Duchenne muscular dystrophy |
Severe childhood autosomal recessive muscular dystrophy is a rare condition characterised by early-onset muscular dystrophy with a severe, Duchenne-like progression, affecting both sexes equally. It refers to a genetically heterogeneous group of disorders in which different molecular and biochemical defects present with a similar phenotype. Most patients with severe childhood autosomal muscular dystrophy have defects in one of the four sarcoglycan genes identified to date. |
MONDO:0010679 |
| MONDO:0974334 |
adhesive peritonitis |
icd11.foundation:412595099 |
MONDO:equivalentTo |
Adhesive peritonitis |
|
MONDO:0004522 |
| MONDO:0974335 |
aapoaii amyloidosis |
icd11.foundation:413381774 |
MONDO:equivalentTo |
AApoAII amyloidosis |
|
MONDO:0018634 |
| MONDO:0974336 |
dyke young type anaemia |
icd11.foundation:416441549 |
MONDO:equivalentTo |
Dyke Young type anaemia |
|
MONDO:0019532 |
| MONDO:0974337 |
melanocytic naevus of choroid |
icd11.foundation:416870165 |
MONDO:equivalentTo |
Melanocytic naevus of choroid |
|
MONDO:0021487 |
| MONDO:0974338 |
nonproliferative diabetic retinopathy |
icd11.foundation:417759842 |
MONDO:equivalentTo |
Nonproliferative diabetic retinopathy |
#DRAFT# This is nonproliferative retinopathy (damage to the retina) caused by complications of diabetes, which can eventually lead to blindness. It is an ocular manifestation of diabetes, a systemic disease, which affects up to 80 percent of all patients who have had diabetes for 10 years or more. |
MONDO:0005266 |
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Always assign an additional code for the type of diabetes mellitus. |
|
| MONDO:0974339 |
recurrent pterygium of eye |
icd11.foundation:418246829 |
MONDO:equivalentTo |
Recurrent pterygium of eye |
This refers to the recurrent benign growth of the conjunctiva. A pterygium commonly grows from the nasal side of the sclera. It is usually present in the palpebral fissure. It is associated with and thought to be caused by ultraviolet-light exposure (e.g., sunlight), low humidity, and dust. The predominance of pterygia on the nasal side is possibly a result of the sun's rays passing laterally through the cornea, where it undergoes refraction and becomes focused on the limbic area. |
MONDO:0005085 |
| MONDO:0974340 |
relapsing remitting chronic inflammatory demyelinating neuropathy |
icd11.foundation:418412180 |
MONDO:equivalentTo |
Relapsing remitting chronic inflammatory demyelinating neuropathy |
|
MONDO:0006702 |
| MONDO:0974341 |
secondary lactase deficiency |
icd11.foundation:418606819 |
MONDO:equivalentTo |
Secondary lactase deficiency |
This form of lactase deficiency results from some sort of damage to the intestines either due to a disease or surgery. |
MONDO:0100345 |
| MONDO:0974342 |
dejerine-sottas syndrome |
icd11.foundation:418660830 |
MONDO:equivalentTo |
Dejerine-Sottas syndrome |
|
MONDO:0015358 |
| MONDO:0974343 |
acute thyroiditis due to fungal infection |
icd11.foundation:419340259 |
MONDO:equivalentTo |
Acute thyroiditis due to fungal infection |
|
MONDO:0001949 |
| MONDO:0974344 |
unstable psoriasis |
icd11.foundation:419782983 |
MONDO:equivalentTo |
Unstable psoriasis |
Unstable psoriasis is an inflammatory form of psoriasis which may be the precursor of erythrodermic or generalised pustular psoriasis. It is characterised by intense inflammation around the edges of existing plaques and/or the appearance of multiple small fresh inflammatory papules and plaques. Some patients may have a lifelong tendency to unstable psoriasis. It tends to be difficult to control without resort to systemic therapy. |
MONDO:0005083 |
| MONDO:0974345 |
drug-induced osteoporosis, ribs |
icd11.foundation:420319415 |
MONDO:equivalentTo |
Drug-induced osteoporosis, ribs |
|
MONDO:0024650 |
| MONDO:0974346 |
osteoarthritis of wrist or hand |
icd11.foundation:420688261 |
MONDO:equivalentTo |
Osteoarthritis of wrist or hand |
|
MONDO:0005178 |
| MONDO:0974347 |
contracted urinary bladder |
icd11.foundation:420883370 |
MONDO:equivalentTo |
Contracted urinary bladder |
A condition characterised by inflammation of the urinary bladder that may lead to progressive shrinkage, fibrosis, contraction, and irreversible end-stage disease with high urination frequency. |
MONDO:0006032 |
| MONDO:0974348 |
kaschin-beck disease, shoulder region |
icd11.foundation:420935739 |
MONDO:equivalentTo |
Kaschin-Beck disease, shoulder region |
|
MONDO:0005610 |
| MONDO:0974349 |
autoimmune hepatitis with cholestasis |
icd11.foundation:421189700 |
MONDO:equivalentTo |
Autoimmune hepatitis with cholestasis |
This is a inflammatory disease caused by immune system cells attacking the liver, with the liver cells having a reduced ability to release bile. It is characterised as being negative for antimitochondrial antibodies. |
MONDO:0016264 |
| MONDO:0974350 |
myasthenia gravis, musk antibody positive |
icd11.foundation:422441512 |
MONDO:equivalentTo |
Myasthenia gravis, MuSK antibody positive |
Approximately 50% of the Acetylcholine receptor-negative patients have autoantibodies against muscle-specific kinase (MuSK). MuSK MG is a separate disease entity given the characteristic pattern of weakness, disease course and pathophysiology. MuSK MG is 20 x as rare as AChR positive MG (prevalence 12 per 10,000 persons). Most patients are female, have an onset <40 years, present with ptosis and diplopia, may rapidly develop bulbar weakness (oculobulbar presentation) and are at higher risk of respiratory crisis. One-third to half of MuSK MG patients may experience myasthenic crises requiring ventilatory support. Limb muscle weakness is less severe. Small thymomas have occasionally been reported. |
MONDO:0009688 |
| MONDO:0974351 |
secondary hypertension associated with renovascular disease |
icd11.foundation:422807701 |
MONDO:equivalentTo |
Secondary hypertension associated with renovascular disease |
Hypertension secondary to renovascular disease due to anatomic stenosis of renal artery and activation of the renin-angiotensin system. |
MONDO:0001200 |
| MONDO:0974352 |
spondylolysis, lumbar region |
icd11.foundation:42335092 |
MONDO:equivalentTo |
Spondylolysis, lumbar region |
|
MONDO:0005541 |
| MONDO:0974353 |
familial-genetic dilated cardiomyopathy |
icd11.foundation:423719003 |
MONDO:equivalentTo |
Familial-genetic dilated cardiomyopathy |
Familial-genetic dilated cardiomyopathy is the presence of dilated cardiomyopathy that is present in multiple members of a pedigree, or in the presence of a genetic mutation known to be significantly associated with dilated cardiomyopathy. |
MONDO:0005021 |
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Additional information: Candidate cytoskeletal and Z diskencoding genes, most of whom are hypothesized to lead to abnormalities in force transmission, include -sarcoglycan, -sarcoglycan, desmin, lamin A/C, metavinculin, muscle LIM protein, titin, -actinin-2, nebulette, myopalladin, and ZASP (Z band alternatively spliced PDZ domain protein) |
|
| MONDO:0974354 |
bronchiectasis with airway obstruction |
icd11.foundation:424101391 |
MONDO:equivalentTo |
Bronchiectasis with airway obstruction |
|
MONDO:0004822 |
| MONDO:0974355 |
mixed phenotype acute leukaemia with t(v;11q23); mll rearranged |
icd11.foundation:424104055 |
MONDO:equivalentTo |
Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged |
A rare mixed phenotype acute leukaemia in which the blasts also carry a translocation involving the MLL gene. The prognosis is usually unfavorable. |
MONDO:0019460 |
| MONDO:0974356 |
rudimentary horn pregnancy |
icd11.foundation:42419141 |
MONDO:equivalentTo |
Rudimentary horn pregnancy |
|
MONDO:0000755 |
| MONDO:0974357 |
contractures - ectodermal dysplasia - cleft lip or palate |
icd11.foundation:425109773 |
MONDO:equivalentTo |
Contractures - ectodermal dysplasia - cleft lip or palate |
Contractures - ectodermal dysplasia - cleft lip/palate syndrome is characterised by severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. |
MONDO:0019287 |
| MONDO:0974358 |
congenital intrahepatic portosystemic shunt |
icd11.foundation:425778319 |
MONDO:equivalentTo |
Congenital intrahepatic portosystemic shunt |
Congenital intrahepatic portosystemic shunts are rare vascular malformations consisting of an abnormal connection or connections between branches of the portal veins and hepatic veins. There may be single or multiple sites of connection, or via a patent ductus venosus (venous duct). |
MONDO:0018811 |
| MONDO:0974359 |
aneurysmal bone cyst, pelvic region or thigh |
icd11.foundation:427599978 |
MONDO:equivalentTo |
Aneurysmal bone cyst, pelvic region or thigh |
|
MONDO:0018815 |
| MONDO:0974360 |
segmental fat necrosis of breast |
icd11.foundation:427654587 |
MONDO:equivalentTo |
Segmental fat necrosis of breast |
|
MONDO:0001101 |
| MONDO:0974361 |
korsakoff syndrome |
icd11.foundation:428071867 |
MONDO:equivalentTo |
Korsakoff syndrome |
A disease of the nervous system, caused by deficiency of vitamin B1 in the brain. This disease commonly follows Wernicke encephalopathy, and may present with inability to form new memories, amnesia, confabulation, or hallucinations. |
MONDO:0010198 |
| MONDO:0974362 |
undifferentiated carcinoma of hypopharynx |
icd11.foundation:428990012 |
MONDO:equivalentTo |
Undifferentiated carcinoma of hypopharynx |
|
MONDO:0044638 |
| MONDO:0974363 |
chronic suppuration of sphenoidal sinus |
icd11.foundation:429710458 |
MONDO:equivalentTo |
Chronic suppuration of sphenoidal sinus |
|
MONDO:0001123 |
| MONDO:0974364 |
chronic duodenal ulcer |
icd11.foundation:430114479 |
MONDO:equivalentTo |
Chronic duodenal ulcer |
|
MONDO:0005412 |
| MONDO:0974365 |
abscess of ciliary body |
icd11.foundation:430679034 |
MONDO:equivalentTo |
Abscess of ciliary body |
|
MONDO:0006651 |
| MONDO:0974366 |
diaphragmatic peritonitis |
icd11.foundation:431602219 |
MONDO:equivalentTo |
Diaphragmatic peritonitis |
|
MONDO:0004522 |
| MONDO:0974367 |
dolichol kinase deficiency |
icd11.foundation:431935004 |
MONDO:equivalentTo |
Dolichol kinase deficiency |
CDG syndrome type Im is a Congenital Disorders of Glycosylation characterised by muscular hypotonia and ichthyosis. |
MONDO:0017749 |
| MONDO:0974368 |
chronic tracheal infection |
icd11.foundation:432027645 |
MONDO:equivalentTo |
Chronic tracheal infection |
|
MONDO:0005607 |
| MONDO:0974369 |
developmental malformations - deafness - dystonia |
icd11.foundation:432035250 |
MONDO:equivalentTo |
Developmental malformations - deafness - dystonia |
Developmental malformations - deafness - dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. |
MONDO:0019589 |
| MONDO:0974370 |
exercise-induced urticaria |
icd11.foundation:432255687 |
MONDO:equivalentTo |
Exercise-induced urticaria |
|
MONDO:0006534 |
| MONDO:0974371 |
postmenopausal osteoporosis, head |
icd11.foundation:432356677 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, head |
|
MONDO:0008159 |
| MONDO:0974372 |
multiple pulmonary hyalinizing granuloma |
icd11.foundation:432729655 |
MONDO:equivalentTo |
Multiple pulmonary hyalinizing granuloma |
|
MONDO:0006933 |
| MONDO:0974373 |
myeloproliferative hypereosinophilic syndrome |
icd11.foundation:432743384 |
MONDO:equivalentTo |
Myeloproliferative hypereosinophilic syndrome |
These are a group of diseases of the bone marrow in which excess cells are produced. They are related to, and may evolve into, myelodysplastic syndrome and acute myeloid leukemia, although the myeloproliferative diseases on the whole have a much better prognosis than these conditions. |
MONDO:0015691 |
| MONDO:0974374 |
papillary glioneuronal tumour of brain |
icd11.foundation:433042746 |
MONDO:equivalentTo |
Papillary glioneuronal tumour of brain |
|
MONDO:0016729 |
| MONDO:0974375 |
spindle cell squamous cell carcinoma of hypopharynx |
icd11.foundation:434331967 |
MONDO:equivalentTo |
Spindle cell squamous cell carcinoma of hypopharynx |
|
MONDO:0044638 |
| MONDO:0974376 |
gadolinium induced nephrogenic systemic fibrosis |
icd11.foundation:434501241 |
MONDO:equivalentTo |
Gadolinium induced nephrogenic systemic fibrosis |
|
MONDO:0015294 |
| MONDO:0974377 |
inborn errors of porphyrin or heme metabolism |
icd11.foundation:434825283 |
MONDO:equivalentTo |
Inborn errors of porphyrin or heme metabolism |
|
MONDO:0019052 |
| MONDO:0974378 |
certain specified immunodeficiencies with predominantly antibody defects |
icd11.foundation:434826404 |
MONDO:equivalentTo |
Certain specified immunodeficiencies with predominantly antibody defects |
|
MONDO:0015132 |
| MONDO:0974379 |
acute gangrenous pharyngitis |
icd11.foundation:43485318 |
MONDO:equivalentTo |
Acute gangrenous pharyngitis |
|
MONDO:0020600 |
| MONDO:0974380 |
synovial cyst of popliteal space |
icd11.foundation:435131151 |
MONDO:equivalentTo |
Synovial cyst of popliteal space |
This is a benign swelling of the semimembranous or more rarely some other synovial bursa found behind the knee joint. |
MONDO:0002471 |
| MONDO:0974381 |
mirror polydactyly - vertebral segmentation - limbs defects |
icd11.foundation:435293086 |
MONDO:equivalentTo |
Mirror polydactyly - vertebral segmentation - limbs defects |
Mirror polydactyly - vertebral segmentation - limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. |
MONDO:0017434 |
| MONDO:0974382 |
hypospadias, scrotal |
icd11.foundation:435644926 |
MONDO:equivalentTo |
Hypospadias, scrotal |
A condition caused by determinants arising during the antenatal period. This condition is characterised by a malformation of the urethra and the ventral side of the penis, leading to an abnormally placed urinary meatus that opens on the scrotum. This condition may also present with an incomplete foreskin that forms a hood. |
MONDO:0005345 |
| MONDO:0974383 |
catarrhal bronchitis |
icd11.foundation:435796015 |
MONDO:equivalentTo |
Catarrhal bronchitis |
|
MONDO:0003781 |
| MONDO:0974384 |
noninfectious inflammation of external ear |
icd11.foundation:436033391 |
MONDO:equivalentTo |
Noninfectious inflammation of external ear |
|
MONDO:0004795 |
| MONDO:0974385 |
phakomatosis pigmentovascularis, unclassifiable |
icd11.foundation:436983489 |
MONDO:equivalentTo |
Phakomatosis pigmentovascularis, unclassifiable |
|
MONDO:0017318 |
| MONDO:0974386 |
acute chagas disease without heart involvement |
icd11.foundation:437268550 |
MONDO:equivalentTo |
Acute Chagas disease without heart involvement |
A disease caused by an acute infection with the protozoan parasite Trypanosoma cruzi. This disease is characterised by fever, headache, lymphadenopathy, pallor, muscle pain, dyspnoea, swelling, or abdominal or chest pain. This disease presents with no cardiac involvement. Transmission is by direct contact with faeces from an infected triatomine bug, vertical transmission, iatrogenic transmission, or ingestion of contaminated food or water. Confirmation is by identification of Trypanosoma cruzi in a blood sample. |
MONDO:0001444 |
| MONDO:0974387 |
left ventricular failure |
icd11.foundation:437702716 |
MONDO:equivalentTo |
Left ventricular failure |
A clinical syndrome characterised by abnormalities of left ventricular function resulting in pulmonary congestion and fluid retention. |
MONDO:0005252 |
| MONDO:0974388 |
schnyder crystalline corneal dystrophy |
icd11.foundation:437801959 |
MONDO:equivalentTo |
Schnyder crystalline corneal dystrophy |
Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterised by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity. |
MONDO:0020213 |
| MONDO:0974389 |
sertoli cell adenoma, unspecified site, male |
icd11.foundation:437833409 |
MONDO:equivalentTo |
Sertoli cell adenoma, unspecified site, male |
|
MONDO:0021447 |
| MONDO:0974390 |
limb-girdle muscular dystrophy 2j, titin gene mutation |
icd11.foundation:437873883 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2J, Titin gene mutation |
Limb-girdle muscular dystrophy type 2J (LGMD2J) is caused by homozygous mutation in the titin gene, whereas heterozygous mutation in the titin gene causes tardive tibial muscular dystrophy. Mutation in the titin gene also causes dilated cardiomyopathy type 1G. Onset of the severe phenotype is in the first to third decades and involves weakness of all proximal muscles. Severe disability with loss of ambulation occurs within 20 years (third to sixth decades). There is no facial muscle involvement or cardiomyopathy. Some patients later develop distal muscle involvement. |
MONDO:0015152 |
| MONDO:0974391 |
benign epithelial neoplasm of stomach |
icd11.foundation:438183366 |
MONDO:equivalentTo |
Benign epithelial neoplasm of stomach |
|
MONDO:0021449 |
| MONDO:0974392 |
well differentiated papillary mesothelioma of pleura |
icd11.foundation:438247237 |
MONDO:equivalentTo |
Well differentiated papillary mesothelioma of pleura |
|
MONDO:0006292 |
| MONDO:0974393 |
combined oxidative phosphorylation deficiency type 6 |
icd11.foundation:438251472 |
MONDO:equivalentTo |
Combined oxidative phosphorylation deficiency type 6 |
This is the combined oxiedative deficiency addition of a phosphate (PO43-) group to a protein or other organic molecule. This diagnosis is type 5. |
MONDO:0000732 |
| MONDO:0974394 |
rheumatic adherent pericarditis |
icd11.foundation:438334455 |
MONDO:equivalentTo |
Rheumatic adherent pericarditis |
|
MONDO:0002133 |
| MONDO:0974395 |
hepatic encephalopathy, stage 2 |
icd11.foundation:439339290 |
MONDO:equivalentTo |
Hepatic encephalopathy, stage 2 |
|
MONDO:0001711 |
| MONDO:0974396 |
myotonia congenita, recessive |
icd11.foundation:439347096 |
MONDO:equivalentTo |
Myotonia congenita, recessive |
Autosomal recessive myotonia congenita (Becker disease) is caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is a non-dystrophic skeletal muscle disorder characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness. |
MONDO:0016121 |
| MONDO:0974397 |
limb-girdle muscular dystrophy 2c, gamma-sarcoglycan deficiency |
icd11.foundation:440038386 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2C, gamma-sarcoglycan deficiency |
Autosomal recessive limb-girdle muscular dystrophy type 2C, or gamma-sarcoglycanopathy is a limb girdle muscular dystrophy (LGMD), a group of disorders characterised by progressive muscle weakness predominantly or primarily involving the pelvic or shoulder girdle musculature, and is characterised by scapular winging and calf hypertrophy with onset before 10 years of age. Cardiac involvement occurs in about 20% of cases. |
MONDO:0015152 |
| MONDO:0974398 |
hydroxylysine metabolic disorder |
icd11.foundation:440085343 |
MONDO:equivalentTo |
Hydroxylysine metabolic disorder |
|
MONDO:0017351 |
| MONDO:0974399 |
proliferative diabetic retinopathy with tractional retinal detachment, macula not involved |
icd11.foundation:442541415 |
MONDO:equivalentTo |
Proliferative diabetic retinopathy with tractional retinal detachment, macula not involved |
|
MONDO:0001660 |
| MONDO:0974400 |
severe combined immunodeficiency with low or normal b-cell numbers |
icd11.foundation:443760536 |
MONDO:equivalentTo |
Severe combined immunodeficiency with low or normal B-cell numbers |
This is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. This diagnosis is with low or normal B-cell numbers. |
MONDO:0015974 |
| MONDO:0974401 |
bursitis related to use, overuse or pressure |
icd11.foundation:443957299 |
MONDO:equivalentTo |
Bursitis related to use, overuse or pressure |
This is a disorder of inflammation of one or more bursae (small sacs) of synovial fluid in the body which usually results in pain and is caused by repetitive use, overuse and pressure irritation. |
MONDO:0002471 |
| MONDO:0974402 |
congenital absence of external auditory canal |
icd11.foundation:444460985 |
MONDO:equivalentTo |
Congenital absence of external auditory canal |
|
MONDO:0015385 |
| MONDO:0974403 |
chondrocalcinosis, head |
icd11.foundation:444662649 |
MONDO:equivalentTo |
Chondrocalcinosis, head |
|
MONDO:0001314 |
| MONDO:0974404 |
maxillary sinus abscess |
icd11.foundation:445142251 |
MONDO:equivalentTo |
Maxillary sinus abscess |
|
MONDO:0001122 |
| MONDO:0974405 |
lumbar neuritis |
icd11.foundation:445729059 |
MONDO:equivalentTo |
Lumbar neuritis |
|
MONDO:0002959 |
| MONDO:0974406 |
hunner ulcer |
icd11.foundation:44621583 |
MONDO:equivalentTo |
Hunner ulcer |
|
MONDO:0018301 |
| MONDO:0974407 |
complement component c9 deficiency |
icd11.foundation:446269999 |
MONDO:equivalentTo |
Complement component C9 deficiency |
This is a protein involved in the complement system. It is a member of the Membrane Attack Complex (MAC) and induces pores on membranes. |
MONDO:0015700 |
| MONDO:0974408 |
primary angle closure and angle closure glaucoma |
icd11.foundation:446416176 |
MONDO:equivalentTo |
Primary angle closure and angle closure glaucoma |
Primary angle closure glaucoma is a condition described as angle closure or/and peripheral anterior synechiae with elevated intraocular pressure and evidence of optic nerve damage. |
MONDO:0005041 |
| MONDO:0974409 |
spherophakia, bilateral |
icd11.foundation:44647971 |
MONDO:equivalentTo |
Spherophakia, bilateral |
|
MONDO:0034977 |
| MONDO:0974410 |
hypospadias-hypertelorism-coloboma and deafness |
icd11.foundation:44652441 |
MONDO:equivalentTo |
Hypospadias-hypertelorism-coloboma and deafness |
Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss. |
MONDO:0019589 |
| MONDO:0974411 |
constrictive bronchiolitis |
icd11.foundation:44684186 |
MONDO:equivalentTo |
Constrictive bronchiolitis |
|
MONDO:0015265 |
| MONDO:0974412 |
spondylolysis, sacral or sacrococcygeal region |
icd11.foundation:447161252 |
MONDO:equivalentTo |
Spondylolysis, sacral or sacrococcygeal region |
|
MONDO:0005541 |
| MONDO:0974413 |
congenital entropion, bilateral |
icd11.foundation:447304531 |
MONDO:equivalentTo |
Congenital entropion, bilateral |
This is an inversion of the edges of eyelids that occurs in both eyes and is present at birth, resulting in irritation of the corneas. |
MONDO:0034971 |
| MONDO:0974414 |
malignant type c thymoma |
icd11.foundation:447324165 |
MONDO:equivalentTo |
Malignant Type C Thymoma |
|
MONDO:0006451 |
| MONDO:0974415 |
ectodermal dysplasia - intellectual deficit - central nervous system malformation |
icd11.foundation:448290524 |
MONDO:equivalentTo |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation |
|
MONDO:0019287 |
| MONDO:0974416 |
acute guttate psoriasis |
icd11.foundation:448453795 |
MONDO:equivalentTo |
Acute guttate psoriasis |
Acute onset of guttate psoriasis in the absence of current plaque psoriasis and typically triggered by streptococcal sore throat or tonsillitis. |
MONDO:0023297 |
| MONDO:0974417 |
anti-synthetase syndrome with dermatomyositis |
icd11.foundation:449209934 |
MONDO:equivalentTo |
Anti-synthetase syndrome with dermatomyositis |
Dermatomyositis associated with autoantibodies to aminoacyl-transfer RNA synthetases, which confer a high risk of interstitial lung disease (anti-synthetase syndrome) as well as myositis. |
MONDO:0001907 |
| MONDO:0974418 |
spondylolisthesis with pars defect |
icd11.foundation:451159351 |
MONDO:equivalentTo |
Spondylolisthesis with pars defect |
|
MONDO:0008475 |
| MONDO:0974419 |
squamous cell carcinoma of thymus |
icd11.foundation:451668197 |
MONDO:equivalentTo |
Squamous cell carcinoma of thymus |
|
MONDO:0006451 |
| MONDO:0974420 |
cholestatic pruritus of pregnancy |
icd11.foundation:45206262 |
MONDO:equivalentTo |
Cholestatic pruritus of pregnancy |
|
MONDO:0100429 |
| MONDO:0974421 |
pulmonary actinomycosis |
icd11.foundation:452367246 |
MONDO:equivalentTo |
Pulmonary actinomycosis |
This is a pulmonary infectious bacterial disease caused by Actinomyces species such as Actinomyces israelii or A. gerencseriae. It can also be caused by Propionibacterium propionicus, and the condition is likely to be polymicrobial aerobic-anaerobic infection. |
MONDO:0005631 |
| MONDO:0974422 |
female hypofertility in unspecified cystic fibrosis |
icd11.foundation:453641607 |
MONDO:equivalentTo |
Female hypofertility in unspecified cystic fibrosis |
|
MONDO:0009061 |
| MONDO:0974423 |
tonsil plague |
icd11.foundation:453658625 |
MONDO:equivalentTo |
Tonsil plague |
|
MONDO:0019095 |
| MONDO:0974424 |
radiculopathy due to compression |
icd11.foundation:453835806 |
MONDO:equivalentTo |
Radiculopathy due to compression |
|
MONDO:0002959 |
| MONDO:0974425 |
annular pancreatitis |
icd11.foundation:453914254 |
MONDO:equivalentTo |
Annular pancreatitis |
|
MONDO:0006515 |
| MONDO:0974426 |
charcot-marie-tooth type paralysis |
icd11.foundation:454165066 |
MONDO:equivalentTo |
Charcot-Marie-Tooth type paralysis |
|
MONDO:0015358 |
| MONDO:0974427 |
latent tuberculosis |
icd11.foundation:454434138 |
MONDO:equivalentTo |
Latent tuberculosis |
|
MONDO:0018076 |
| MONDO:0974428 |
paternal uniparental disomy of chromosome 15 |
icd11.foundation:45491137 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome 15 |
|
MONDO:0020057 |
| MONDO:0974429 |
icd category |
icd11.foundation:455013390 |
MONDO:equivalentTo |
ICD Category |
|
|
| MONDO:0974430 |
endodermal sinus tumour, unspecified site, female |
icd11.foundation:455713450 |
MONDO:equivalentTo |
Endodermal sinus tumour, unspecified site, female |
|
MONDO:0008170 |
| MONDO:0974431 |
idiopathic non-arteritic ischemic optic neuropathy |
icd11.foundation:456931888 |
MONDO:equivalentTo |
Idiopathic non-arteritic ischemic optic neuropathy |
This refers to idiopathic non-arteritic ischemic damage to the optic nerve due to any cause. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. |
MONDO:0000499 |
| MONDO:0974432 |
congestive heart failure nyha class ii |
icd11.foundation:457135520 |
MONDO:equivalentTo |
Congestive heart failure NYHA Class II |
|
MONDO:0005009 |
| MONDO:0974433 |
disseminated superficial porokeratosis |
icd11.foundation:45788231 |
MONDO:equivalentTo |
Disseminated superficial porokeratosis |
A condition characterised by the development of multiple small pink or flesh-coloured macules or thin plaques, each with a well-defined fine circular rim of parakeratotic keratinocytes (cornoid lamella). It most commonly appears in adult life as a result of chronic sun exposure (disseminated superficial actinic porokeratosis) but may be seen in patients who are immunosuppressed as a result of therapy (e.g. organ transplant recipients) or disease (e.g. haematological malignancy, HIV infection). It is thought to be due to clonal proliferation of abnormal keratinocytes [Dermatology TAG]. |
MONDO:0006602 |
| MONDO:0974434 |
deafness - intellectual deficit syndrome, martin-probst type |
icd11.foundation:458131527 |
MONDO:equivalentTo |
Deafness - intellectual deficit syndrome, Martin-Probst type |
Martin-Probst syndrome is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. |
MONDO:0019589 |
| MONDO:0974435 |
bursitis with unknown aetiology, hand |
icd11.foundation:459639041 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, hand |
|
MONDO:0002471 |
| MONDO:0974436 |
proximal duplications of the short arm of chromosome 3 |
icd11.foundation:459669626 |
MONDO:equivalentTo |
Proximal duplications of the short arm of chromosome 3 |
|
MONDO:0016940 |
| MONDO:0974437 |
pericardial pseudocirrhosis of the liver |
icd11.foundation:459694358 |
MONDO:equivalentTo |
Pericardial pseudocirrhosis of the liver |
|
MONDO:0006711 |
| MONDO:0974438 |
congenital genu extrorsum |
icd11.foundation:459967266 |
MONDO:equivalentTo |
Congenital genu extrorsum |
|
MONDO:0017470 |
| MONDO:0974439 |
brown's sheath syndrome |
icd11.foundation:460286774 |
MONDO:equivalentTo |
Brown's sheath syndrome |
The Brown sheath syndrome is an abnormal binocular alignment caused by abnormalities of ocular movement in one or both eyes characterised by limitation of elevation in adduction. In many cases difficulty for the superior oblique tendon to slide through the trochlea is identified. The condition may be congenital or acquired . This form of strabismus is vertical, a hypotropia, and may also be associated with a V pattern in which there is an exotropia in upgaze. |
MONDO:0004753 |
| MONDO:0974440 |
sequelae of unspecified frostbite of lower limb |
icd11.foundation:461600299 |
MONDO:equivalentTo |
Sequelae of unspecified frostbite of lower limb |
|
MONDO:0800177 |
| MONDO:0974441 |
oculoglandular listeriosis |
icd11.foundation:46201200 |
MONDO:equivalentTo |
Oculoglandular listeriosis |
|
MONDO:0005828 |
| MONDO:0974442 |
oxycodone intoxication |
icd11.foundation:462077786 |
MONDO:equivalentTo |
Oxycodone intoxication |
|
MONDO:0018173 |
| MONDO:0974443 |
calculus of gallbladder or cystic duct with other cholecystitis |
icd11.foundation:46246899 |
MONDO:equivalentTo |
Calculus of gallbladder or cystic duct with other cholecystitis |
Stones in gallbladder or cystic duct present with inflammation of the gall bladder wall and bile duct. |
MONDO:0012672 |
| MONDO:0974444 |
juvenile psoriatic arthritis, rheumatoid factor positive, hla b27 positive |
icd11.foundation:462970402 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, rheumatoid factor positive, HLA B27 positive |
|
MONDO:0019436 |
| MONDO:0974445 |
dilated cardiomyopathy due to endocrinopathy |
icd11.foundation:463657429 |
MONDO:equivalentTo |
Dilated cardiomyopathy due to endocrinopathy |
Dilated cardiomyopathy due to an endocrinopathy is dilated cardiomyopathy in the setting of a deficiency or excess of a hormone, such as thyrotoxicosis, hypothyroidism, growth hormone deficiency, hypoparathyroidism and catecholamine-secreting tumours (such as pheochromocytoma), and that is usually reversible with appropriate treatment to the endocrine disorder. |
MONDO:0016338 |
| MONDO:0974446 |
spasm of urethra |
icd11.foundation:463668755 |
MONDO:equivalentTo |
Spasm of urethra |
|
MONDO:0002127 |
| MONDO:0974447 |
limited fixed drug eruption |
icd11.foundation:464467615 |
MONDO:equivalentTo |
Limited fixed drug eruption |
The most common form of fixed drug eruption in which one or only a few patches of inflammation develop. |
MONDO:0017395 |
| MONDO:0974448 |
arylsulfatase a deficiency |
icd11.foundation:465423711 |
MONDO:equivalentTo |
Arylsulfatase A deficiency |
|
MONDO:0018868 |
| MONDO:0974449 |
amish nemaline myopathy |
icd11.foundation:46578428 |
MONDO:equivalentTo |
Amish nemaline myopathy |
Amish nemaline myopathy is a type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subsides after 2-3 months of age. Life expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency. |
MONDO:0018958 |
| MONDO:0974450 |
septic gallbladder |
icd11.foundation:466061937 |
MONDO:equivalentTo |
Septic gallbladder |
|
MONDO:0043994 |
| MONDO:0974451 |
chronic obstructive pulmonary disease, unspecified, mild airflow limitation |
icd11.foundation:466242173 |
MONDO:equivalentTo |
Chronic obstructive pulmonary disease, unspecified, mild airflow limitation |
Chronic obstructive pulmonary disease (COPD), unspecified, with mild airflow limitation, FEV1 greater than or equal to 80% predicted (post bronchodilator FEV1). |
MONDO:0005002 |
| MONDO:0974452 |
secondary retrobulbar neuritis |
icd11.foundation:466302765 |
MONDO:equivalentTo |
Secondary retrobulbar neuritis |
|
MONDO:0024335 |
| MONDO:0974453 |
secondary open-angle glaucoma |
icd11.foundation:46690802 |
MONDO:equivalentTo |
Secondary open-angle glaucoma |
|
MONDO:0005041 |
| MONDO:0974454 |
genital ulcer disease of vagina |
icd11.foundation:46736715 |
MONDO:equivalentTo |
Genital ulcer disease of vagina |
|
MONDO:0002234 |
| MONDO:0974455 |
hereditary sensory and autonomic neuropathy type ie |
icd11.foundation:469631867 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy Type IE |
HASN type IE is an autosomal dominant condition due to mutations in the DNMT1 gene. It presents in child or adulthood with severe sensory loss, ulceromutilation, sensorineural hearing loss, early onset dementia and no autonomic symptoms. |
MONDO:0018213 |
| MONDO:0974456 |
colonic ascariasis |
icd11.foundation:469672179 |
MONDO:equivalentTo |
Colonic ascariasis |
Colonic ascariasis is a disease of humans caused by the parasitic roundworm Ascaris lumbricoides that are reaching the large intestine. |
MONDO:0005654 |
| MONDO:0974457 |
crohn disease of upper gastrointestinal tract |
icd11.foundation:469864646 |
MONDO:equivalentTo |
Crohn disease of upper gastrointestinal tract |
Crohn disease involved in upper gastrointestinal tract, such as oral cavity, oesophagus, stomach and duodenum. |
MONDO:0005011 |
| MONDO:0974458 |
mooren's corneal ulcer |
icd11.foundation:470174149 |
MONDO:equivalentTo |
Mooren's corneal ulcer |
|
MONDO:0004577 |
| MONDO:0974459 |
benign tumour of fixed part of tongue |
icd11.foundation:470186441 |
MONDO:equivalentTo |
Benign tumour of fixed part of tongue |
|
MONDO:0021476 |
| MONDO:0974460 |
actinomycotic encephalitis |
icd11.foundation:470574928 |
MONDO:equivalentTo |
Actinomycotic encephalitis |
|
MONDO:0005631 |
| MONDO:0974461 |
childhood linear iga bullous dermatosis |
icd11.foundation:470720333 |
MONDO:equivalentTo |
Childhood linear IgA bullous dermatosis |
Childhood linearIgAbullousdermatosis is an autoimmune skin disease characterised by blisters on the skin and mucous membranes. The exact causes of the disease are unknown but the disease is mediated by IgA autoantibodies to hemidesmosome and basement membrane components BP180 and its shed ectodomain, BP230 and LAD285. The disease affects children, often of preschool age. Those rare patients with very prominent mucosal involvement with scarring are now classified as mucous membrane pemphigoid. |
MONDO:0018748 |
| MONDO:0974462 |
atypical progressive supranuclear palsy |
icd11.foundation:471240985 |
MONDO:equivalentTo |
Atypical progressive supranuclear palsy |
Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) . |
MONDO:0019037 |
| MONDO:0974463 |
bursitis with unknown aetiology, multiple sites |
icd11.foundation:472271468 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, multiple sites |
|
MONDO:0002471 |
| MONDO:0974464 |
cervical metritis |
icd11.foundation:472422018 |
MONDO:equivalentTo |
Cervical metritis |
|
MONDO:0002345 |
| MONDO:0974465 |
juvenile enthesitis related arthritis, ana negative |
icd11.foundation:472499303 |
MONDO:equivalentTo |
Juvenile enthesitis related arthritis, ANA negative |
|
MONDO:0019437 |
| MONDO:0974466 |
late onset cerebellar cortical atrophy |
icd11.foundation:47298761 |
MONDO:equivalentTo |
Late onset cerebellar cortical atrophy |
This is a sporadic late onset cerebellar cortical atrophy with progressive ataxia. Neuropathologically it is characterised by diffuse cerebellar cortical lesions and absence of neuronal loss in the dorsomedial part of the inferior olives. |
MONDO:0016592 |
| MONDO:0974467 |
adenomatous polyp of the rectum |
icd11.foundation:473179933 |
MONDO:equivalentTo |
Adenomatous polyp of the rectum |
This is a circumscribed benign tumour that protrudes from epithelial tissue of rectum. Adenomas in the colon are often referred to as adenomatous polyps. |
MONDO:0021392 |
| MONDO:0974468 |
hypoparathyroidism due to impaired parathyroid hormone secretion |
icd11.foundation:473284654 |
MONDO:equivalentTo |
Hypoparathyroidism due to impaired parathyroid hormone secretion |
Hypoparathyroidism due to impaired PTH secretion is a condition with low circulating PTH level and hypocalcaemia caused by being unable to secrete PTH from parathyroids in response to hypocalcaemia with pathological or functional defects in parathyroids. |
MONDO:0001220 |
| MONDO:0974469 |
mesenchymal cardiac hamartoma |
icd11.foundation:473558270 |
MONDO:equivalentTo |
Mesenchymal cardiac hamartoma |
|
MONDO:0021450 |
| MONDO:0974470 |
severe congenital neutropaenia |
icd11.foundation:473816983 |
MONDO:equivalentTo |
Severe congenital neutropaenia |
Severe congenital neutropaenia is an immunodeficiency characterised by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit. This neutropaenia leads to repeated bacterial or mycotic infections in various locations, mostly cutaneo-mucous, ear, nose, and throat, and pulmonary. |
MONDO:0015134 |
| MONDO:0974471 |
intermediate anorectal malformation without fistula |
icd11.foundation:47391938 |
MONDO:equivalentTo |
Intermediate anorectal malformation without fistula |
This is a type of anorectal atresia. This is an intermediate lesion, in which cul-de-sac at the level of the pubococcygeal line, without fistula. |
MONDO:0015732 |
| MONDO:0974472 |
oligohydramnios without mention of rupture of membranes |
icd11.foundation:474702384 |
MONDO:equivalentTo |
Oligohydramnios without mention of rupture of membranes |
|
MONDO:0005881 |
| MONDO:0974473 |
tick-borne viral meningoencephalitis |
icd11.foundation:474729586 |
MONDO:equivalentTo |
Tick-borne viral meningoencephalitis |
|
MONDO:0017572 |
| MONDO:0974474 |
allergic asthma with exacerbation |
icd11.foundation:474902557 |
MONDO:equivalentTo |
Allergic asthma with exacerbation |
This refers to acute or subacute episodes of progressively worsening shortness of breath, cough, wheezing, and chest tightness, or some combination of these symptoms in patients with proven allergic asthma. Allergic asthma can be exacerbated by allergens to which the individual is allergic, other exogenous factors such as respiratory infections, pollutants or climate change, or endogenous co-factors. Exacerbations are characterised by decreases in expiratory airflow that can be documented and quantified by simple measurement of lung function (spirometry or PEF), can vary widely among individuals and within individuals from rare to frequent. The severity of exacerbation of allergic asthma can vary from mild to very severe and life-threatening, but in general respond to standard treatments of bronchodilators (inhalers) and steroid |
MONDO:0004784 |
| MONDO:0974475 |
lacrimo-auriculo-dento-digital syndrome |
icd11.foundation:475956869 |
MONDO:equivalentTo |
Lacrimo-auriculo-dento-digital syndrome |
LADD is an acronym for Lacrymo-Auriculo-Dento-Digital syndrome, characterised by obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrymia. Aplasia or hypoplasia of the salivary glands may also be present, leading to dry mouth and early onset of severe dental caries. |
MONDO:0019287 |
| MONDO:0974476 |
deep vascularization of cornea |
icd11.foundation:47603082 |
MONDO:equivalentTo |
Deep vascularization of cornea |
|
MONDO:0006713 |
| MONDO:0974477 |
acute otitis media |
icd11.foundation:476505279 |
MONDO:equivalentTo |
Acute otitis media |
|
MONDO:0005441 |
| MONDO:0974478 |
acquired nephrogenic diabetes insipidus due to causes classified elsewhere |
icd11.foundation:476617567 |
MONDO:equivalentTo |
Acquired nephrogenic diabetes insipidus due to causes classified elsewhere |
|
MONDO:0016383 |
| MONDO:0974479 |
myxopapillary ependymoma of brain |
icd11.foundation:477941577 |
MONDO:equivalentTo |
Myxopapillary ependymoma of brain |
A slow growing, WHO grade I glioma which generally occurs in young adults. It arises almost exclusively in the conus medullaris, cauda equina, and filum terminale of the spinal cord. It generally has a favorable prognosis and is characterised histologically by tumour cells arranged in a papillary manner around vascularized mucoid stromal cores. (Adapted from WHO). |
MONDO:0016697 |
| MONDO:0974480 |
acute gonococcal seminal vesiculitis |
icd11.foundation:477968215 |
MONDO:equivalentTo |
Acute gonococcal seminal vesiculitis |
|
MONDO:0001027 |
| MONDO:0974481 |
dwarfism - thin bones - multiple fractures |
icd11.foundation:478181047 |
MONDO:equivalentTo |
Dwarfism - thin bones - multiple fractures |
|
MONDO:0019699 |
| MONDO:0974482 |
miller-dieker syndrome |
icd11.foundation:478783491 |
MONDO:equivalentTo |
Miller-Dieker syndrome |
Miller-Dieker Syndrome is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. |
MONDO:0022754 |
| MONDO:0974483 |
coloboma of choroid or retina, bilateral |
icd11.foundation:478961610 |
MONDO:equivalentTo |
Coloboma of choroid or retina, bilateral |
|
MONDO:0020354 |
| MONDO:0974484 |
chorioretinal inflammation |
icd11.foundation:479438201 |
MONDO:equivalentTo |
Chorioretinal inflammation |
|
MONDO:0001280 |
| MONDO:0974485 |
cmp-sialic acid transporter deficiency |
icd11.foundation:480474610 |
MONDO:equivalentTo |
CMP-sialic acid transporter deficiency |
Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage. |
MONDO:0017749 |
| MONDO:0974486 |
hypertrichosis of upper eyelid |
icd11.foundation:480542213 |
MONDO:equivalentTo |
Hypertrichosis of upper eyelid |
This refers to an abnormal amount of hair growth over the eyelid; extensive cases of hypertrichosis have informally been called werewolf syndrome, because the appearance is similar to the werewolf. Hypertrichosis can be either congenital (present at birth) or acquired later in life. |
MONDO:0001334 |
| MONDO:0974487 |
distal duplications of the long arm of chromosome 6 |
icd11.foundation:480560717 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 6 |
|
MONDO:0016957 |
| MONDO:0974488 |
interruption of corticosteroid therapy |
icd11.foundation:480633636 |
MONDO:equivalentTo |
Interruption of corticosteroid therapy |
This refers to the interruption of a class of chemicals that includes steroid hormones naturally produced in the adrenal cortex of vertebrates and analogues of these hormones that are synthesized in laboratories. |
MONDO:0019801 |
| MONDO:0974489 |
long gap oesophageal atresia |
icd11.foundation:481037944 |
MONDO:equivalentTo |
Long gap oesophageal atresia |
Oesophageal Atresia characterised by the presence of a long gap between the two oesophageal blind pouches. |
MONDO:0008586 |
| MONDO:0974490 |
lymphocytic hypophysitis |
icd11.foundation:481072789 |
MONDO:equivalentTo |
Lymphocytic hypophysitis |
|
MONDO:0021156 |
| MONDO:0974491 |
ischiopagus |
icd11.foundation:481630648 |
MONDO:equivalentTo |
Ischiopagus |
A condition characterised as conjoined twins that are united at the ischium. |
MONDO:0958083 |
| MONDO:0974492 |
brachydactyly-syndactyly, zhao type |
icd11.foundation:482372144 |
MONDO:equivalentTo |
Brachydactyly-syndactyly, Zhao type |
Brachydactyly-syndactyly, Zhao type is a genetic syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. |
MONDO:0017434 |
| MONDO:0974493 |
hypertrophied anal papillae |
icd11.foundation:482555372 |
MONDO:equivalentTo |
Hypertrophied anal papillae |
The enlargement of existing anal papillae is a consequence of chronic inflammation and fibrotic proliferation within the anorectal zone, which is known as hypertrophied or fibrous anal polyp. |
MONDO:0060766 |
| MONDO:0974494 |
plaque psoriasis with pustules |
icd11.foundation:484310803 |
MONDO:equivalentTo |
Plaque psoriasis with pustules |
The development of pustulation around existing plaques of psoriasis, often provoked by irritation from topical therapies such as tar or anthralin (dithranol) applied to unstable psoriasis. It may progress to acute generalised pustular psoriasis. |
MONDO:0022205 |
| MONDO:0974495 |
x-linked adrenoleukodystrophy |
icd11.foundation:485676510 |
MONDO:equivalentTo |
X-linked adrenoleukodystrophy |
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease characterised by progressive demyelinisation of the central nervous system (CNS) (brain and/or spinal cord) and peripheral adrenal insufficiency. The cerebral forms of juvenile X-ALD (45% of the cases) affect previously healthy 5 to 12 year-old boys. The adult form, adrenomyeloneuropathy (AMN), is characterised by the onset of spastic paraparesia between 20 and 45 years of age, associated with gait disturbances, urinary disorders and sexual dysfunction. |
MONDO:0000004 |
| MONDO:0974496 |
autoimmune hepatitis type 1 with cirrhosis |
icd11.foundation:485741141 |
MONDO:equivalentTo |
Autoimmune hepatitis type 1 with cirrhosis |
Autoimmune hepatitis type 1 with cirrhosis is autoimmune hepatitis type 1 complicated with liver cirrhosis. |
MONDO:0005543 |
| MONDO:0974497 |
suppurative endocarditis |
icd11.foundation:485824369 |
MONDO:equivalentTo |
Suppurative endocarditis |
|
MONDO:0000565 |
| MONDO:0974498 |
ectopic testis |
icd11.foundation:486077735 |
MONDO:equivalentTo |
Ectopic testis |
A condition of the testis, caused by determinants arising during the antenatal period. This condition is characterised by the abnormal location of the testis away from the normal line of descent such as in the superficial inguinal pouch, perineal, abdominal, pelvic, crural, penile or femoral positions, and with normal testis and spermatic cord anatomy. Confirmation is by diagnostic laparoscopy to rule out an intra-abdominal, inguinal or absent/vanishing testis. |
MONDO:0009047 |
| MONDO:0974499 |
acanthocheilonema infestation |
icd11.foundation:486838806 |
MONDO:equivalentTo |
Acanthocheilonema infestation |
|
MONDO:0005838 |
| MONDO:0974500 |
calcific tendinitis, head |
icd11.foundation:486913156 |
MONDO:equivalentTo |
Calcific tendinitis, head |
|
MONDO:0001903 |
| MONDO:0974501 |
cysticercosis of central nervous system |
icd11.foundation:487162814 |
MONDO:equivalentTo |
Cysticercosis of central nervous system |
A disease of the central nervous system, caused by an infection of tissue with larval cysts from the parasitic worm Taenia solium. This disease presents with symptoms depending on the site of infection, the number and size of cysts, and the individual's immune status. This disease may present with epilepsy, chronic headache, hydrocephalus, neurological deficits, or may be asymptomatic. Transmission is by haematogenous spread of larvae to the central nervous system after ingestion of Taenia solium eggs in contaminated food or water. Confirmation is by detection of antibodies against Taenia solium in a blood sample, or cerebrospinal fluid and advanced imaging of the brain. |
MONDO:0015484 |
| MONDO:0974502 |
benign neoplasm of epiglottis, anterior aspect |
icd11.foundation:487282401 |
MONDO:equivalentTo |
Benign neoplasm of epiglottis, anterior aspect |
|
MONDO:0021479 |
| MONDO:0974503 |
pilodental dysplasia - refractive errors |
icd11.foundation:487533617 |
MONDO:equivalentTo |
Pilodental dysplasia - refractive errors |
|
MONDO:0019287 |
| MONDO:0974504 |
walled-eye bilateral internuclear ophthalmoplegia |
icd11.foundation:488240433 |
MONDO:equivalentTo |
Walled-eye bilateral internuclear ophthalmoplegia |
|
MONDO:0003417 |
| MONDO:0974505 |
disseminated aspergillosis |
icd11.foundation:489221449 |
MONDO:equivalentTo |
Disseminated aspergillosis |
Invasive aspergillosis affecting three or more organs. |
MONDO:0000240 |
| MONDO:0974506 |
spotted fever due to rickettsia sibirica |
icd11.foundation:490238539 |
MONDO:equivalentTo |
Spotted fever due to Rickettsia sibirica |
|
MONDO:0001195 |
| MONDO:0974507 |
alcohol dependence, current use, episodic |
icd11.foundation:490388233 |
MONDO:equivalentTo |
Alcohol dependence, current use, episodic |
During the past 12 months, there has been alcohol dependence with intermittent heavy drinking, with periods of abstinence from alcohol. If current use is continuous (daily or almost daily over at least the past 1 month), the diagnosis of Alcohol dependence, current use, continuous should be made instead. |
MONDO:0007079 |
| MONDO:0974508 |
molybdenum cofactor deficiency, complementation group a |
icd11.foundation:490508412 |
MONDO:equivalentTo |
Molybdenum cofactor deficiency, complementation group A |
|
MONDO:0020480 |
| MONDO:0974509 |
x-linked thrombocytosis |
icd11.foundation:490769405 |
MONDO:equivalentTo |
X-linked thrombocytosis |
This is the X-linked presence of high platelet counts in the blood, and can be either primary (also termed essential and caused by a myeloproliferative disease) or reactive (also termed secondary). |
MONDO:0019111 |
| MONDO:0974510 |
phosphomannomutase 2 deficiency |
icd11.foundation:491821390 |
MONDO:equivalentTo |
Phosphomannomutase 2 deficiency |
Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome and is characterised by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood. |
MONDO:0017740 |
| MONDO:0974511 |
hyper-igm syndrome due to uracil n glycosylase |
icd11.foundation:492472329 |
MONDO:equivalentTo |
Hyper-IgM syndrome due to uracil N glycosylase |
This has been characterised in three patients from France and Japan. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact. |
MONDO:0018040 |
| MONDO:0974512 |
heterotopic gastric mucosa |
icd11.foundation:493562184 |
MONDO:equivalentTo |
Heterotopic gastric mucosa |
Heterotopic gastric mucosa (HGM) is abnormally placed gastric mucosa outside of the stomach. This is frequent in the cervical oesophagus, and widely considered to be congenital in nature. Most carriers are asymptomatic, but symptoms as well as morphologic changes associated with HGM are regarded as a result of the damaging effect of acid, produced by parietal cells in the mostly fundic type of HGM. Tiny microscopic foci have to be distinguished from a macroscopically visible patch, also called inlet patch. |
MONDO:0019513 |
| MONDO:0974513 |
medial deletions of the long arm of chromosome 2 |
icd11.foundation:493698530 |
MONDO:equivalentTo |
Medial deletions of the long arm of chromosome 2 |
|
MONDO:0016901 |
| MONDO:0974514 |
acquired fibrinolytic haemorrhage |
icd11.foundation:493753235 |
MONDO:equivalentTo |
Acquired fibrinolytic haemorrhage |
|
MONDO:0001243 |
| MONDO:0974515 |
sertoli cell carcinoma, unspecified site, female |
icd11.foundation:493954541 |
MONDO:equivalentTo |
Sertoli cell carcinoma, unspecified site, female |
|
MONDO:0008170 |
| MONDO:0974516 |
cardiac q fever |
icd11.foundation:494575983 |
MONDO:equivalentTo |
Cardiac Q fever |
|
MONDO:0019186 |
| MONDO:0974517 |
superficial corneal dystrophies |
icd11.foundation:494847084 |
MONDO:equivalentTo |
Superficial corneal dystrophies |
The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterised by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy. |
MONDO:0018102 |
| MONDO:0974518 |
medial duplications of the long arm of chromosome 2 |
icd11.foundation:495440894 |
MONDO:equivalentTo |
Medial duplications of the long arm of chromosome 2 |
|
MONDO:0016953 |
| MONDO:0974519 |
lamb syndrome |
icd11.foundation:497481908 |
MONDO:equivalentTo |
LAMB syndrome |
|
MONDO:0015285 |
| MONDO:0974520 |
optic ataxia |
icd11.foundation:498046251 |
MONDO:equivalentTo |
Optic ataxia |
Inaccurate arm pointing: an inability to reach for or point to visual targets |
MONDO:0018211 |
| MONDO:0974521 |
deafness - peripheral neuropathy - arterial disease |
icd11.foundation:498071008 |
MONDO:equivalentTo |
Deafness - peripheral neuropathy - arterial disease |
Deafness - peripheral neuropathy - arterial disease syndrome is characterised by early-onset sensorineural deafness, skin rash, headache, peripheral arterial disease (leading to gangrene after a small dose of ergotamine), peripheral neuropathy, elevation of spinal fluid protein and cells, papilledema, and contracted retinal arteries. |
MONDO:0019589 |
| MONDO:0974522 |
myelocele |
icd11.foundation:498359921 |
MONDO:equivalentTo |
Myelocele |
|
MONDO:0008449 |
| MONDO:0974523 |
pituitary embolism |
icd11.foundation:498788577 |
MONDO:equivalentTo |
Pituitary embolism |
|
MONDO:0015127 |
| MONDO:0974524 |
congenital toxoplasma encephalitis |
icd11.foundation:499656812 |
MONDO:equivalentTo |
Congenital toxoplasma encephalitis |
|
MONDO:0005715 |
| MONDO:0974525 |
mosaicism, 45, x or other cell line with abnormal sex chromosome |
icd11.foundation:50021633 |
MONDO:equivalentTo |
Mosaicism, 45, X or other cell line with abnormal sex chromosome |
A disease caused by embryonic fusion or the structural mutation of a sex chromosome early in embryonic development, resulting in a subset of cells in the body having one normal copy of the X chromosome and one abnormal sex chromosome. This disease may present with short stature, sexual organ dysfunction, or may be asymptomatic. |
MONDO:0019499 |
| MONDO:0974526 |
carnitine palmitoyltransferase i deficiency |
icd11.foundation:500237301 |
MONDO:equivalentTo |
Carnitine palmitoyltransferase I deficiency |
Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterised by recurrent attacks of fasting-induced hypoketotic hypoglycaemia and risk of liver failure. |
MONDO:0017716 |
| MONDO:0974527 |
intralobar sequestration of lung |
icd11.foundation:500637990 |
MONDO:equivalentTo |
Intralobar sequestration of lung |
|
MONDO:0017843 |
| MONDO:0974528 |
alcohol withdrawal, uncomplicated |
icd11.foundation:500976312 |
MONDO:equivalentTo |
Alcohol withdrawal, uncomplicated |
All diagnostic requirements for Alcohol Withdrawal are met and the withdrawal state is not accompanied by perceptual disturbances or seizures. |
MONDO:0005433 |
| MONDO:0974529 |
severe chronic rhinitis |
icd11.foundation:50218672 |
MONDO:equivalentTo |
Severe chronic rhinitis |
|
MONDO:0004514 |
| MONDO:0974530 |
necrospermia |
icd11.foundation:50219306 |
MONDO:equivalentTo |
Necrospermia |
|
MONDO:0005372 |
| MONDO:0974531 |
xeroderma pigmentosum a |
icd11.foundation:502959160 |
MONDO:equivalentTo |
Xeroderma pigmentosum A |
Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers, and shows typical XP manifestations (photosensitivity of skin with burning, freckling, and skin cancers) associated with a spectrum of mild to severe neurological anomalies (e.g. cognitive deterioration, dysarthria, balance disturbance, areflexia) and sometimes delay of growth and sexual development. |
MONDO:0019600 |
| MONDO:0974532 |
traumatic balanoposthitis |
icd11.foundation:50350066 |
MONDO:equivalentTo |
Traumatic balanoposthitis |
Inflammation of the penis and prepuce due to trauma, particularly in association with sexual activity. |
MONDO:0001618 |
| MONDO:0974533 |
anthrax colitis |
icd11.foundation:503569003 |
MONDO:equivalentTo |
Anthrax colitis |
|
MONDO:0001701 |
| MONDO:0974534 |
mitochondrial myopathy with cytochrome c oxidase deficiency |
icd11.foundation:504320485 |
MONDO:equivalentTo |
Mitochondrial myopathy with cytochrome C oxidase deficiency |
Rare type of isolated myopathy due to Cytochrome C oxidase deficiency. The clinical presentations of Cytochrome C oxidase deficiency are heterogeneous, and include fatal infantile myopathy with or without a Fanconi-type renal tubulopathy, Leigh syndrome (subacute necrotizing encephalomyelopathy), cardiomyopathy with myopathy, recurrent myoglobinuria, and a benign spontaneously reversible Cytochrome C oxidase deficient myopathy |
MONDO:0009637 |
| MONDO:0974535 |
type 1-c fusiform dilatation of the entire extrahepatic bile duct |
icd11.foundation:504566504 |
MONDO:equivalentTo |
Type 1-C Fusiform dilatation of the entire extrahepatic bile duct |
|
MONDO:0018805 |
| MONDO:0974536 |
juvenile dermatomyositis with necrotising cutaneous vasculitis |
icd11.foundation:504741085 |
MONDO:equivalentTo |
Juvenile dermatomyositis with necrotising cutaneous vasculitis |
Type of idiopathic inflammatory myopathy that is characterized by rash accompanied by muscle weakness, anorexia, and fatigue. Juvenile form presents more insidiously with muscle weakness, particularly of the neck flexors, often preceded by fatigue and low grade fevers. Associated with heliotropic rash, periorbital erythema, Gottron papules over the knuckles, elbows, and knees, and periungal telangectasias. Juvenile form is associated with greater involvement of blood vessels and vasculopathy compared to adult form. |
MONDO:0008054 |
| MONDO:0974537 |
excess vitamin d administered as drug |
icd11.foundation:504922819 |
MONDO:equivalentTo |
Excess vitamin D administered as drug |
|
MONDO:0004937 |
| MONDO:0974538 |
congenital lobar emphysema, unilateral |
icd11.foundation:505197930 |
MONDO:equivalentTo |
Congenital lobar emphysema, unilateral |
|
MONDO:0007536 |
| MONDO:0974539 |
spondylocostal dysostosis, autosomal recessive |
icd11.foundation:505492480 |
MONDO:equivalentTo |
Spondylocostal dysostosis, autosomal recessive |
Autosomal recessive spondylocostal dysostosis is a rare skeletal disorder of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. |
MONDO:0019711 |
| MONDO:0974540 |
autosomal dominant polycystic kidney disease, type 2 |
icd11.foundation:505944281 |
MONDO:equivalentTo |
Autosomal dominant polycystic kidney disease, Type 2 |
Autosomal dominant polycystic kidney disease due to mutations on Polycystin2 gene on chromosome 4 (PKD1 gene). |
MONDO:0004691 |
| MONDO:0974541 |
thymic neuroendocrine tumour |
icd11.foundation:506615135 |
MONDO:equivalentTo |
Thymic neuroendocrine tumour |
|
MONDO:0020516 |
| MONDO:0974542 |
gingival fibromatosis - progressive deafness |
icd11.foundation:506707210 |
MONDO:equivalentTo |
Gingival fibromatosis - progressive deafness |
Gingival fibromatosis - progressive deafness syndrome is characterised by gingival fibromatosis associated with progressive sensorineural hearing loss. |
MONDO:0019589 |
| MONDO:0974543 |
haemolytic anaemia due to glucose-6-phosphate dehydrogenase deficiency |
icd11.foundation:506935822 |
MONDO:equivalentTo |
Haemolytic anaemia due to glucose-6-phosphate dehydrogenase deficiency |
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary erythrocyte enzyme deficiency that can manifest with severe neonatal jaundice which can lead to serious neurological consequences, or, most often, with acute haemolytic anaemia following ingestion of certain foods (fava beans), common drugs (some antimalaria drugs, sulphamides, analgesics), or in the course of an infection, in otherwise asymptomatic individuals. |
MONDO:0020105 |
| MONDO:0974544 |
chronic cholecystitis |
icd11.foundation:507077490 |
MONDO:equivalentTo |
Chronic cholecystitis |
Chronic inflammation of the gall bladder wall resulted from repeated acute cholecystitis or from mechanical irritation of the gall bladder wall by unspecified disorders |
MONDO:0002155 |
| MONDO:0974545 |
craniopagus |
icd11.foundation:507183811 |
MONDO:equivalentTo |
Craniopagus |
A condition characterised as conjoined twins that are united at the skull. |
MONDO:0958083 |
| MONDO:0974546 |
aneurysmal bone cyst, shoulder region |
icd11.foundation:507472641 |
MONDO:equivalentTo |
Aneurysmal bone cyst, shoulder region |
|
MONDO:0018815 |
| MONDO:0974547 |
cubitus valgus |
icd11.foundation:50801260 |
MONDO:equivalentTo |
Cubitus valgus |
|
MONDO:0017429 |
| MONDO:0974548 |
leydig-sertoli cell tumour of unspecified site, male |
icd11.foundation:508587347 |
MONDO:equivalentTo |
Leydig-Sertoli cell tumour of unspecified site, male |
|
MONDO:0021447 |
| MONDO:0974549 |
kaschin-beck disease, pelvic region or thigh |
icd11.foundation:508902224 |
MONDO:equivalentTo |
Kaschin-Beck disease, pelvic region or thigh |
|
MONDO:0005610 |
| MONDO:0974550 |
defects in o-xylosylglycan synthesis |
icd11.foundation:510225228 |
MONDO:equivalentTo |
Defects in O-xylosylglycan synthesis |
|
MONDO:0017741 |
| MONDO:0974551 |
tubular androblastoma, unspecified site, male |
icd11.foundation:510255745 |
MONDO:equivalentTo |
Tubular androblastoma, unspecified site, male |
|
MONDO:0021447 |
| MONDO:0974552 |
marburg virus disease |
icd11.foundation:510498140 |
MONDO:equivalentTo |
Marburg virus disease |
Marburg disease caused by Marburg virus or Ravn virus. |
MONDO:0020500 |
| MONDO:0974553 |
catarrhal pneumonia |
icd11.foundation:51058745 |
MONDO:equivalentTo |
Catarrhal pneumonia |
|
MONDO:0005249 |
| MONDO:0974554 |
gaucher disease - ophthalmoplegia - cardiovascular calcification |
icd11.foundation:511928730 |
MONDO:equivalentTo |
Gaucher disease - ophthalmoplegia - cardiovascular calcification |
Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterised by cardiac involvement. |
MONDO:0018150 |
| MONDO:0974555 |
thiamine-responsive maple-syrup-urine disease |
icd11.foundation:511945220 |
MONDO:equivalentTo |
Thiamine-responsive maple-syrup-urine disease |
This is an thiamine-responsive autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. |
MONDO:0009563 |
| MONDO:0974556 |
hereditary angioedema type iii |
icd11.foundation:511982427 |
MONDO:equivalentTo |
Hereditary angioedema type III |
Hereditary angioedema due not to abnormalities of C1 inhibitor production or function but to increased kininogenase activity and consequent increased bradykinin release. It may be triggered by pregnancy or oestrogen-containing oral contraceptive preparations. |
MONDO:0019623 |
| MONDO:0974557 |
chronic idiopathic telogen effluvium |
icd11.foundation:512300297 |
MONDO:equivalentTo |
Chronic idiopathic telogen effluvium |
Chronic telogen effluvium is a primary, idiopathic condition affecting middle-aged women. It must be distinguished from androgenetic hair loss and chronic diffuse telogen effluvium secondary to organic causes. Women describe a sudden onset of increased hair shedding persisting for at least six months. It contrasts with acute telogen effluvium by its prolonged fluctuating course and much less frequent occurrence. It occurs mainly in females between 30 and 50 years of age. Although some cases follow an acute telogen effluvium with an identified trigger (e.g. pregnancy or systemic illness), in most cases no trigger can be identified. |
MONDO:0002153 |
| MONDO:0974558 |
gonococcal bursitis, vertebral column |
icd11.foundation:513742856 |
MONDO:equivalentTo |
Gonococcal bursitis, vertebral column |
|
MONDO:0001719 |
| MONDO:0974559 |
squamous cell carcinomas of aryepiglottic fold, hypopharyngeal aspect |
icd11.foundation:514060398 |
MONDO:equivalentTo |
Squamous cell carcinomas of aryepiglottic fold, hypopharyngeal aspect |
|
MONDO:0044638 |
| MONDO:0974560 |
cervical pregnancy |
icd11.foundation:514389732 |
MONDO:equivalentTo |
Cervical pregnancy |
|
MONDO:0000755 |
| MONDO:0974561 |
congenital myopathy with no structural abnormalities |
icd11.foundation:514523225 |
MONDO:equivalentTo |
Congenital myopathy with no structural abnormalities |
|
MONDO:0019952 |
| MONDO:0974562 |
secondary thrombocytopenic purpura |
icd11.foundation:51520034 |
MONDO:equivalentTo |
Secondary thrombocytopenic purpura |
This disease is characterised by a relative decrease in levels of platelets within the blood. This disease may present with increased bruising or haemorrhaging. Confirmation is by identification of decreased platelets in a blood sample. |
MONDO:0001198 |
| MONDO:0974563 |
emery-dreifuss muscular dystrophy, x-linked |
icd11.foundation:516501338 |
MONDO:equivalentTo |
Emery-Dreifuss muscular dystrophy, X-linked |
X-linked Emery-Dreifuss muscular dystrophy-1 is a degenerative myopathy characterised by weakness and atrophy of muscle without involvement of the nervous system. It is clinically characterised by flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation. It is caused by mutation in the gene encoding emerin on chromosome Xq28. |
MONDO:0016830 |
| MONDO:0974564 |
leukocyte adhesion deficiency type 1 |
icd11.foundation:516653913 |
MONDO:equivalentTo |
Leukocyte adhesion deficiency type 1 |
Leukocyte adhesion deficiency type I (LAD-I) is a primary immune deficiency that belongs to the group of leukocyte adhesion deficiencies characterised by life-threatening, recurrent bacterial infections. |
MONDO:0017570 |
| MONDO:0974565 |
pharyngeal-cervical-brachial variant of guillain-barr syndrome |
icd11.foundation:517146728 |
MONDO:equivalentTo |
Pharyngeal-cervical-brachial variant of Guillain-Barr syndrome |
|
MONDO:0020347 |
| MONDO:0974566 |
leptospiral meningitis |
icd11.foundation:518398715 |
MONDO:equivalentTo |
Leptospiral meningitis |
|
MONDO:0005825 |
| MONDO:0974567 |
phymatous rosacea |
icd11.foundation:518541897 |
MONDO:equivalentTo |
Phymatous rosacea |
The hallmark of phymatous rosacea is rhinophyma but the forehead, chin and ears may also be affected. It is characterised by hypertrophy of the affected tissue which can produce gross distortion, particularly of the nose. The pathological changes include a variably severe mixed inflammatory infiltrate, sebaceous gland hyperplasia and dermal fibrosis. The aetiology is poorly understood. It is not always accompanied by other features of rosacea. |
MONDO:0006604 |
| MONDO:0974568 |
malignant endometrioid cystadenofibroma of ovary |
icd11.foundation:519599560 |
MONDO:equivalentTo |
Malignant endometrioid cystadenofibroma of ovary |
|
MONDO:0008170 |
| MONDO:0974569 |
persistent atrial fibrillation |
icd11.foundation:519924384 |
MONDO:equivalentTo |
Persistent atrial fibrillation |
Atrial fibrillation (AF) which is sustained beyond seven days, or lasting less than seven days but necessitating pharmacologic or electrical cardioversion to restore normal sinus rhythm. |
MONDO:0004981 |
| MONDO:0974570 |
brucellosis due to brucella abortus |
icd11.foundation:51993663 |
MONDO:equivalentTo |
Brucellosis due to Brucella abortus |
Brucella abortus which is most brucellosis in cattle is the most widespread cause of infection, but associated with much less human disease. Infection in human is often sub-clinical and, where disease does occur, it is usually less severe than that caused by B. melitensis or B. suis. Cattle are by far the most common source of B. abortus. |
MONDO:0005683 |
| MONDO:0974571 |
aniridia, bilateral |
icd11.foundation:519955342 |
MONDO:equivalentTo |
Aniridia, bilateral |
|
MONDO:0019172 |
| MONDO:0974572 |
holoprosencephaly, middle interhemispheric variant |
icd11.foundation:520338638 |
MONDO:equivalentTo |
Holoprosencephaly, middle interhemispheric variant |
Midline interhemispheric variant of holoprosencephaly or syntelencephaly is a form of holoprosencephaly (HPE) characterised by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nuclei, and frequent heterotopic grey matter. |
MONDO:0016296 |
| MONDO:0974573 |
polioencephalomyelitis |
icd11.foundation:521067386 |
MONDO:equivalentTo |
Polioencephalomyelitis |
|
MONDO:0017373 |
| MONDO:0974574 |
rheumatoid vasculitis with rheumatoid arthritis |
icd11.foundation:521306021 |
MONDO:equivalentTo |
Rheumatoid vasculitis with rheumatoid arthritis |
|
MONDO:0043267 |
| MONDO:0974575 |
melanocytic naevus of iris |
icd11.foundation:521808164 |
MONDO:equivalentTo |
Melanocytic naevus of iris |
|
MONDO:0021485 |
| MONDO:0974576 |
bladder varices |
icd11.foundation:522619914 |
MONDO:equivalentTo |
Bladder varices |
|
MONDO:0004869 |
| MONDO:0974577 |
limb-girdle muscular dystrophy 2a, calpain-3 deficiency |
icd11.foundation:522700832 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2A, calpain-3 deficiency |
Autosomal recessive limb girdle muscular dystrophy (LGMD) type 2A is a form of LGMD, a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved, and is characterised by a predominantly symmetric atrophic muscular dystrophy, with relatively rare muscle hypertrophy. Achilles tendon contractures may be an early sign, and contractures elsewhere may also be prominent. Pelvic girdle involvement and scapular winging are present and symptomatic from the onset. |
MONDO:0015152 |
| MONDO:0974578 |
drug-induced osteoporosis, ankle or foot |
icd11.foundation:523760094 |
MONDO:equivalentTo |
Drug-induced osteoporosis, ankle or foot |
|
MONDO:0024650 |
| MONDO:0974579 |
glycogen storage disease due to glucose-6-phosphate system deficiency |
icd11.foundation:523888904 |
MONDO:equivalentTo |
Glycogen storage disease due to glucose-6-phosphate system deficiency |
Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterised by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. |
MONDO:0002412 |
| MONDO:0974580 |
panniculitis, unspecified, multiple sites |
icd11.foundation:523990565 |
MONDO:equivalentTo |
Panniculitis, unspecified, multiple sites |
|
MONDO:0006591 |
| MONDO:0974581 |
myotilin myopathy |
icd11.foundation:524213229 |
MONDO:equivalentTo |
Myotilin myopathy |
Myotilin myopathy is a myofibrillar muscle disorder characterised by dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins. Ultrastructural studies implicate the Z-disk as the site of the initial pathologic change, and mutations in two Z-disk-related proteins, desmin and alphaB-crystallin, have been identified in a minority of patients with myofibrillar myopathy. Peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy, whereas not all cases of myotilinopathy have a limb-girdle phenotype. |
MONDO:0018943 |
| MONDO:0974582 |
glandular cheilitis |
icd11.foundation:524276118 |
MONDO:equivalentTo |
Glandular cheilitis |
|
MONDO:0002102 |
| MONDO:0974583 |
delayed acute graft-versus-host disease |
icd11.foundation:524392521 |
MONDO:equivalentTo |
Delayed acute graft-versus-host disease |
Acute graft-versus-host disease presenting more than 100 days after engraftment. |
MONDO:0020546 |
| MONDO:0974584 |
autosomal-dominant optic atrophy |
icd11.foundation:524458469 |
MONDO:equivalentTo |
Autosomal-Dominant optic atrophy |
Optic nerve disorders inherited in an autosomal dominant manner |
MONDO:0020249 |
| MONDO:0974585 |
radiculopathy due to metabolic disorders |
icd11.foundation:525636274 |
MONDO:equivalentTo |
Radiculopathy due to metabolic disorders |
|
MONDO:0002959 |
| MONDO:0974586 |
carnitine transporter deficiency |
icd11.foundation:526376450 |
MONDO:equivalentTo |
Carnitine transporter deficiency |
Carnitine uptake deficiency is a fatty acid disorder due to defective carnitine transporters, resulting in progressive hypokinetic dilated cardiomyopathy that is generally associated with muscular weakness. This last sign may be major and result in proximal myopathy and amyotrophy. Hypoglycaemia- and hypoketosis-linked coma or acute hepatic injuries such as Reye's syndrome may occur after periods of fasting or infections. |
MONDO:0017716 |
| MONDO:0974587 |
gout without specification whether primary or secondary |
icd11.foundation:526468865 |
MONDO:equivalentTo |
Gout without specification whether primary or secondary |
|
MONDO:0005393 |
| MONDO:0974588 |
microinvasive squamous carcinoma of unspecified site |
icd11.foundation:527663527 |
MONDO:equivalentTo |
Microinvasive squamous carcinoma of unspecified site |
|
MONDO:0006143 |
| MONDO:0974589 |
dwarfism - tall vertebrae |
icd11.foundation:527863550 |
MONDO:equivalentTo |
Dwarfism - tall vertebrae |
Dwarfism - tall vertebrae syndrome was described in two sisters in 1972 and was characterised by short stature with disproportionately tall vertebral bodies. No other cases have been documented since the initial report. |
MONDO:0019711 |
| MONDO:0974590 |
profound alexia |
icd11.foundation:529346480 |
MONDO:equivalentTo |
Profound Alexia |
|
MONDO:0001712 |
| MONDO:0974591 |
transposition of thoracic organs |
icd11.foundation:529362960 |
MONDO:equivalentTo |
Transposition of thoracic organs |
|
MONDO:0010029 |
| MONDO:0974592 |
glycogen storage disease due to glycogen debranching enzyme deficiency |
icd11.foundation:530430134 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogen debranching enzyme deficiency |
Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterised by severe muscle weakness and hepatopathy. Children present with hepatomegaly, growth retardation and occasional seizures related to hypoglycaemia. Hepatomegaly may disappear with adulthood. Muscle weakness is slowly progressive. Other frequently associated signs include muscular hypotonia and hypertrophic cardiomyopathy. Symptoms often improve at puberty, except in the few cases where cirrhosis or myopathy appears. |
MONDO:0002412 |
| MONDO:0974593 |
brain demyelination due to methionine adenosyltransferase deficiency |
icd11.foundation:530628531 |
MONDO:equivalentTo |
Brain demyelination due to methionine adenosyltransferase deficiency |
This refers to any disease of the nervous system in which the myelin sheath of neurons is damaged. This diagnosis is due to methionine adenosyltransferase deficiency. |
MONDO:0019222 |
| MONDO:0974594 |
ventriculomegaly due to developmental anomaly |
icd11.foundation:531098996 |
MONDO:equivalentTo |
Ventriculomegaly due to developmental anomaly |
|
MONDO:0016349 |
| MONDO:0974595 |
distal duplications of the long arm of chromosome 4 |
icd11.foundation:531455927 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 4 |
|
MONDO:0016955 |
| MONDO:0974596 |
medullated fibres of retina |
icd11.foundation:531465120 |
MONDO:equivalentTo |
Medullated fibres of retina |
|
MONDO:0020247 |
| MONDO:0974597 |
central pterygium of eye |
icd11.foundation:531510214 |
MONDO:equivalentTo |
Central pterygium of eye |
|
MONDO:0005085 |
| MONDO:0974598 |
adult rhabdomyoma |
icd11.foundation:531871923 |
MONDO:equivalentTo |
Adult rhabdomyoma |
|
MONDO:0036688 |
| MONDO:0974599 |
congenital bowing of fibula |
icd11.foundation:532974525 |
MONDO:equivalentTo |
Congenital bowing of fibula |
|
MONDO:0008882 |
| MONDO:0974600 |
systemic or invasive phaeohyphomycosis |
icd11.foundation:533379934 |
MONDO:equivalentTo |
Systemic or invasive phaeohyphomycosis |
This is a heterogeneous group of mycotic infections caused by dematiaceous fungi whose morphologic characteristics in tissue include hyphae, yeast-like cells, or a combination of these. This diagnosis is systemic and invasive. |
MONDO:0001867 |
| MONDO:0974601 |
cauda equina syndrome, complete |
icd11.foundation:533657693 |
MONDO:equivalentTo |
Cauda equina syndrome, complete |
|
MONDO:0005693 |
| MONDO:0974602 |
psoriatic arthritis, multiple sites |
icd11.foundation:533771417 |
MONDO:equivalentTo |
Psoriatic arthritis, multiple sites |
|
MONDO:0011849 |
| MONDO:0974603 |
progressive hypertrophic interstitial neuropathy |
icd11.foundation:534008644 |
MONDO:equivalentTo |
Progressive hypertrophic interstitial neuropathy |
|
MONDO:0015358 |
| MONDO:0974604 |
congenital ocular motor apraxia |
icd11.foundation:534499168 |
MONDO:equivalentTo |
Congenital ocular motor apraxia |
|
MONDO:0020258 |
| MONDO:0974605 |
epithelioid malignant mesothelioma of pleura |
icd11.foundation:534500818 |
MONDO:equivalentTo |
Epithelioid malignant mesothelioma of pleura |
|
MONDO:0006292 |
| MONDO:0974606 |
heart collapse |
icd11.foundation:535778743 |
MONDO:equivalentTo |
Heart collapse |
|
MONDO:0005252 |
| MONDO:0974607 |
giant cell arteritis anterior ischemic optic neuropathy |
icd11.foundation:536307197 |
MONDO:equivalentTo |
Giant cell arteritis anterior ischemic optic neuropathy |
This refers to giant cell arteritis anterior ischemic damage to the optic nerve due to any cause. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. |
MONDO:0000498 |
| MONDO:0974608 |
x-linked ichthyosis syndromes |
icd11.foundation:53659080 |
MONDO:equivalentTo |
X-linked ichthyosis syndromes |
Hereditary disorders in which X-linked ichthyosis is associated with significant other abnormalities. |
MONDO:0017263 |
| MONDO:0974609 |
acute kidney failure, stage 3 |
icd11.foundation:53686342 |
MONDO:equivalentTo |
Acute kidney failure, stage 3 |
Rate of change of serum creatinine: 3.0 times baseline OR increase to 4.0 mg/dl OR need for renal replacement therapy (i.e. dialysis) or for patients <18 years, decrease in GFR to <35 ml/min per 1.73 m2 OR Magnitude of urine output: <0.3 ml/kg/h for 24 hours OR anuria for >= 12 hours |
MONDO:0002492 |
| MONDO:0974610 |
moderate alexia |
icd11.foundation:537349302 |
MONDO:equivalentTo |
Moderate Alexia |
|
MONDO:0001712 |
| MONDO:0974611 |
adrenocorticotropic hormone deficiency |
icd11.foundation:538301537 |
MONDO:equivalentTo |
Adrenocorticotropic hormone deficiency |
Deficiency of adrenocorticotropic hormone (ACTH) resulting in functional hypocortisolism. Includes deficiency of corticotropin releasing hormone (CRH, CRF). |
MONDO:0015127 |
| MONDO:0974612 |
excyclotropia |
icd11.foundation:538523046 |
MONDO:equivalentTo |
Excyclotropia |
|
MONDO:0004894 |
| MONDO:0974613 |
erosive balanitis |
icd11.foundation:538980972 |
MONDO:equivalentTo |
Erosive balanitis |
|
MONDO:0001618 |
| MONDO:0974614 |
hypertensive retinopathy, stage 0 |
icd11.foundation:539475309 |
MONDO:equivalentTo |
Hypertensive Retinopathy, Stage 0 |
|
MONDO:0006797 |
| MONDO:0974615 |
osteonecrosis due to trauma, hand |
icd11.foundation:539549076 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, hand |
|
MONDO:0018375 |
| MONDO:0974616 |
spherophakia, unilateral |
icd11.foundation:539661382 |
MONDO:equivalentTo |
Spherophakia, unilateral |
|
MONDO:0034977 |
| MONDO:0974617 |
chronic hyperplastic gingivitis |
icd11.foundation:540318009 |
MONDO:equivalentTo |
Chronic hyperplastic gingivitis |
|
MONDO:0020782 |
| MONDO:0974618 |
spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism |
icd11.foundation:540787961 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism |
|
MONDO:0016763 |
| MONDO:0974619 |
ideational apraxia |
icd11.foundation:541312183 |
MONDO:equivalentTo |
Ideational apraxia |
|
MONDO:0000665 |
| MONDO:0974620 |
congenital hypophosphatasia |
icd11.foundation:542239706 |
MONDO:equivalentTo |
Congenital hypophosphatasia |
|
MONDO:0018570 |
| MONDO:0974621 |
acute on chronic cholecystitis |
icd11.foundation:542292436 |
MONDO:equivalentTo |
Acute on chronic cholecystitis |
|
MONDO:0043994 |
| MONDO:0974623 |
unspecified frostbite of trunk, not elsewhere classified |
icd11.foundation:542724831 |
MONDO:equivalentTo |
Unspecified frostbite of trunk, not elsewhere classified |
|
MONDO:0800177 |
| MONDO:0974624 |
essential (primary) hypertension, unspecified, with mention of hypertensive crisis |
icd11.foundation:543412184 |
MONDO:equivalentTo |
Essential (primary) hypertension, unspecified, with mention of hypertensive crisis |
This is when the blood pressure in the arteries is elevated, and is essential (primary), unspecified, with mention of hypertensive crisis. |
MONDO:0001134 |
| MONDO:0974625 |
hereditary orotic aciduria type 1 |
icd11.foundation:543808207 |
MONDO:equivalentTo |
Hereditary orotic aciduria type 1 |
|
MONDO:0009797 |
| MONDO:0974626 |
aneurysmal bone cyst, trunk |
icd11.foundation:543969453 |
MONDO:equivalentTo |
Aneurysmal bone cyst, trunk |
|
MONDO:0018815 |
| MONDO:0974627 |
entire colon hirschsprung disease |
icd11.foundation:544532795 |
MONDO:equivalentTo |
Entire colon Hirschsprung disease |
A subtype of Hirschsprung disease, in which affected segment extends the total colon and distal 30-50cm of the terminal ileum (total colonic aganglionosis). |
MONDO:0018309 |
| MONDO:0974628 |
end stage dementia |
icd11.foundation:544540222 |
MONDO:equivalentTo |
End stage dementia |
|
MONDO:0001627 |
| MONDO:0974629 |
endometriosis of skin |
icd11.foundation:544627354 |
MONDO:equivalentTo |
Endometriosis of skin |
|
MONDO:0001287 |
| MONDO:0974630 |
chronic hypertrophic rhinitis |
icd11.foundation:545004107 |
MONDO:equivalentTo |
Chronic hypertrophic rhinitis |
|
MONDO:0004514 |
| MONDO:0974631 |
glaucoma due to retinopathy of prematurity |
icd11.foundation:545091298 |
MONDO:equivalentTo |
Glaucoma due to retinopathy of prematurity |
|
MONDO:0019783 |
| MONDO:0974632 |
ulcerative rectosigmoiditis |
icd11.foundation:545503130 |
MONDO:equivalentTo |
Ulcerative rectosigmoiditis |
|
MONDO:0005101 |
| MONDO:0974633 |
certain specified cataracts |
icd11.foundation:545773433 |
MONDO:equivalentTo |
Certain specified cataracts |
A cataract is clouding of the lens of the eye, which impedes the passage of light. |
MONDO:0005129 |
| MONDO:0974634 |
fibrodysplasia ossificans progressiva, neck |
icd11.foundation:545863843 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, neck |
|
MONDO:0007606 |
| MONDO:0974635 |
congenital absence of epiglottis |
icd11.foundation:546370223 |
MONDO:equivalentTo |
Congenital absence of epiglottis |
This is the congenital absence of the flap that is made of elastic cartilage tissue covered with a mucous membrane, attached to the entrance of the larynx. |
MONDO:0015504 |
| MONDO:0974636 |
necrosis of antrum |
icd11.foundation:546416765 |
MONDO:equivalentTo |
Necrosis of antrum |
|
MONDO:0001122 |
| MONDO:0974637 |
chronic fibrinous rhinitis |
icd11.foundation:546955995 |
MONDO:equivalentTo |
Chronic fibrinous rhinitis |
|
MONDO:0004514 |
| MONDO:0974638 |
cardiac arrest with pulseless electrical activity |
icd11.foundation:547109156 |
MONDO:equivalentTo |
Cardiac arrest with pulseless electrical activity |
Electrical activation of the heart without mechanical activation resulting in hemodynamic collapse. |
MONDO:0000745 |
| MONDO:0974639 |
amelogenesis imperfecta - gingival hyperplasia |
icd11.foundation:547737972 |
MONDO:equivalentTo |
Amelogenesis imperfecta - gingival hyperplasia |
Amelogenesis imperfecta and gingival hyperplasia syndrome associates gingival fibromatosis with dental abnormalities including generalised thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption. |
MONDO:0019507 |
| MONDO:0974640 |
acquired thrombotic thrombocytopenic purpura due to anti-adamts 13 antibodies |
icd11.foundation:54955327 |
MONDO:equivalentTo |
Acquired thrombotic thrombocytopenic purpura due to anti-ADAMTS 13 antibodies |
This is an acquired, rare disorder of the blood-coagulation system, causing extensive microscopic clots to form in the small blood vessels throughout the body. This diagnosis is due to ADAMTS 13 antibodies. |
MONDO:0018896 |
| MONDO:0974641 |
cornea guttata |
icd11.foundation:550347227 |
MONDO:equivalentTo |
Cornea guttata |
|
MONDO:0001515 |
| MONDO:0974642 |
lipomyoma of unspecified site |
icd11.foundation:550387902 |
MONDO:equivalentTo |
Lipomyoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0974643 |
glomerular lesion diffuse sclerosing nephritis |
icd11.foundation:550552258 |
MONDO:equivalentTo |
Glomerular lesion diffuse sclerosing nephritis |
|
MONDO:0005300 |
| MONDO:0974644 |
familial hypobetalipoproteinaemia |
icd11.foundation:550889838 |
MONDO:equivalentTo |
Familial hypobetalipoproteinaemia |
Familial hypobetalipoproteinemia is the familial form of hypobetalipoproteinemia, which is characterised by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. It can be severe with early onset (abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia; see this term) or benign (benign familial hypobetalipoproteinemia; see this term). |
MONDO:0017774 |
| MONDO:0974645 |
prostatic fibroma |
icd11.foundation:55091090 |
MONDO:equivalentTo |
Prostatic fibroma |
|
MONDO:0021510 |
| MONDO:0974646 |
typhoid arthritis |
icd11.foundation:55117941 |
MONDO:equivalentTo |
Typhoid arthritis |
|
MONDO:0005619 |
| MONDO:0974647 |
orgasm-induced epilepsy |
icd11.foundation:551362699 |
MONDO:equivalentTo |
Orgasm-induced epilepsy |
|
MONDO:0017768 |
| MONDO:0974648 |
ichthyosis as component of other specified genetic syndrome |
icd11.foundation:551599383 |
MONDO:equivalentTo |
Ichthyosis as component of other specified genetic syndrome |
|
MONDO:0017263 |
| MONDO:0974649 |
common arterial trunk with aortic dominance |
icd11.foundation:551770382 |
MONDO:equivalentTo |
Common arterial trunk with aortic dominance |
A congenital cardiovascular malformation in which a common arterial trunk is associated with an unobstructed aortic arch. |
MONDO:0018072 |
| MONDO:0974650 |
recurrent peritonsillar abscess |
icd11.foundation:552663946 |
MONDO:equivalentTo |
Recurrent peritonsillar abscess |
|
MONDO:0005906 |
| MONDO:0974651 |
plasma cell balanitis |
icd11.foundation:552673288 |
MONDO:equivalentTo |
Plasma cell balanitis |
Plasma cell balanitis presents in middle-aged or elderly uncircumcised men as one or more indolent circumscribed shiny smooth red plaques on the glans. It is thought that retention of urine and squames between the tightly apposed and infrequently or inappropriately bathed, commensally hypercolonized epithelial surfaces of the prepuce and glans results in chronic inflammation. It is important that this condition is differentiated from penile intraepithelial neoplasia which may have a similar clinical appearance. |
MONDO:0001618 |
| MONDO:0974652 |
fibrodysplasia ossificans progressiva, forearm |
icd11.foundation:553109946 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, forearm |
|
MONDO:0007606 |
| MONDO:0974653 |
thoracic neuritis |
icd11.foundation:553716853 |
MONDO:equivalentTo |
Thoracic neuritis |
|
MONDO:0002959 |
| MONDO:0974654 |
hair follicle naevus |
icd11.foundation:554820588 |
MONDO:equivalentTo |
Hair follicle naevus |
|
MONDO:0020979 |
| MONDO:0974655 |
polydactyly of the thumb |
icd11.foundation:555718563 |
MONDO:equivalentTo |
Polydactyly of the thumb |
A condition caused by development of supernumerary thumbs during the antenatal period. |
MONDO:0017425 |
| MONDO:0974656 |
chronic bronchitis with emphysema |
icd11.foundation:555750069 |
MONDO:equivalentTo |
Chronic bronchitis with emphysema |
|
MONDO:0005607 |
| MONDO:0974657 |
distal duplications of the short arm of chromosome 2 |
icd11.foundation:555817074 |
MONDO:equivalentTo |
Distal duplications of the short arm of chromosome 2 |
|
MONDO:0016939 |
| MONDO:0974658 |
post traumatic urethral stricture |
icd11.foundation:556664654 |
MONDO:equivalentTo |
Post traumatic urethral stricture |
Stenosis or narrowing of the urethra accompanied by fibrosis and scarring of the spongiosal body due to physical wound or trauma. |
MONDO:0002127 |
| MONDO:0974659 |
progressive myoclonic epilepsy type 2 |
icd11.foundation:558455490 |
MONDO:equivalentTo |
Progressive myoclonic epilepsy type 2 |
Lafora disease is a particularly severe type of progressive myoclonus epilepsy. The course is marked by prominent and rapid cognitive deterioration (the primary symptoms of which may precede the motor anomalies), and by the progressive increase in intensity of the seizures and myoclonus. |
MONDO:0020074 |
| MONDO:0974660 |
b lymphoblastic leukaemia or lymphoma with hypodiploidy |
icd11.foundation:559446835 |
MONDO:equivalentTo |
B lymphoblastic leukaemia or lymphoma with hypodiploidy |
A precursor lymphoid neoplasm composed of B-lymphoblasts which contain less than 46 chromosomes. It has an unfavorable clinical outcome. |
MONDO:0020511 |
| MONDO:0974661 |
hereditary hypofibrinogenaemia |
icd11.foundation:559585471 |
MONDO:equivalentTo |
Hereditary hypofibrinogenaemia |
Familial hypofibrinogenemia is a coagulation disorder characterised by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. |
MONDO:0018060 |
| MONDO:0974662 |
pulmonary arterial hypertension associated with other conditions |
icd11.foundation:55973654 |
MONDO:equivalentTo |
Pulmonary arterial hypertension associated with other conditions |
This is an associated increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, together known as the lung vasculature, leading to shortness of breath, dizziness, fainting, and other symptoms. |
MONDO:0015924 |
| MONDO:0974663 |
monocular esotropia with v pattern |
icd11.foundation:560414796 |
MONDO:equivalentTo |
Monocular esotropia with V pattern |
Monocular esotropia with a V pattern is an abnormal binocular alignment in which one of the eyes has an inward deviation. The additional descriptive feature of the presence of a V pattern is specified in which the eyes are less deviated in upgaze and more deviated in downgaze. |
MONDO:0004896 |
| MONDO:0974664 |
dolichol-phosphate-mannose synthase 1 deficiency |
icd11.foundation:561449953 |
MONDO:equivalentTo |
Dolichol-phosphate-mannose synthase 1 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. The syndrome has been described in seven children. It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1. |
MONDO:0017749 |
| MONDO:0974665 |
hypoadrenalism and adrenal failure due to paracoccidioidomycosis |
icd11.foundation:561986006 |
MONDO:equivalentTo |
Hypoadrenalism and adrenal failure due to paracoccidioidomycosis |
Persistence of adrenal dysfunction despite prolonged and successful antifungal therapy of paracoccidioidomycosis. In the majority of cases the adrenal insufficiency is asymptomatic but up to 3% of patients develop Addison disease. Rarely, acute adrenal failure may occur. |
MONDO:0005894 |
| MONDO:0974666 |
trichinosis due to trichinella spiralis |
icd11.foundation:562073235 |
MONDO:equivalentTo |
Trichinosis due to Trichinella spiralis |
|
MONDO:0019444 |
| MONDO:0974667 |
non-uraemic calcific arteriolopathy |
icd11.foundation:562603132 |
MONDO:equivalentTo |
Non-uraemic calcific arteriolopathy |
Calcific arteriolopathy in the absence of kidney disease or renal transplantation. Associations include primary hyperparathyroidism, alcoholic liver disease and non-organ-specific systemic autoimmune disorders. |
MONDO:0017215 |
| MONDO:0974668 |
covid-19, virus not identified |
icd11.foundation:563410356 |
MONDO:equivalentTo |
COVID-19, virus not identified |
|
MONDO:0100096 |
| MONDO:0974669 |
congenital lobar emphysema, bilateral |
icd11.foundation:566319131 |
MONDO:equivalentTo |
Congenital lobar emphysema, bilateral |
|
MONDO:0007536 |
| MONDO:0974670 |
agenesis of trachea |
icd11.foundation:566688418 |
MONDO:equivalentTo |
Agenesis of trachea |
Tracheal agenesis is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking. |
MONDO:0015505 |
| MONDO:0974671 |
progressive chronic inflammatory demyelinating neuropathy |
icd11.foundation:567036007 |
MONDO:equivalentTo |
Progressive chronic inflammatory demyelinating neuropathy |
|
MONDO:0006702 |
| MONDO:0974672 |
congenital pinhole urinary meatus |
icd11.foundation:568723383 |
MONDO:equivalentTo |
Congenital pinhole urinary meatus |
|
MONDO:0018559 |
| MONDO:0974673 |
double inlet left ventricle |
icd11.foundation:568907539 |
MONDO:equivalentTo |
Double inlet left ventricle |
A congenital cardiovascular malformation with a univentricular atrioventricular connection wherein both atria connect to a morphologically left ventricle either via two separate atrioventricular valves or a common atrioventricular valve, such that all or nearly all of the total atrioventricular junctional (annular) area is committed to the left ventricular chamber. |
MONDO:0015451 |
| MONDO:0974674 |
spondylolisthesis, thoracolumbar region |
icd11.foundation:569238418 |
MONDO:equivalentTo |
Spondylolisthesis, thoracolumbar region |
|
MONDO:0008475 |
| MONDO:0974675 |
systemic mastocytosis with an associated clonal haematologic non-mast cell lineage disease |
icd11.foundation:572179318 |
MONDO:equivalentTo |
Systemic mastocytosis with an associated clonal haematologic non-mast cell lineage disease |
Systemic mastocytosis with an associated clonal haematological non-mast cell lineage disease is a form of systemic mastocytosis associated with malignancy (other than mast cell leukaemia; see this term). It represents less than 10% of cases of systemic mastocytosis. This condition is usually indolent, but may rarely be aggressive. |
MONDO:0020333 |
| MONDO:0974676 |
congenital primary hydronephrosis |
icd11.foundation:572541361 |
MONDO:equivalentTo |
Congenital primary hydronephrosis |
|
MONDO:0007741 |
| MONDO:0974677 |
ataxia due to multiple system atrophy, cerebellar type |
icd11.foundation:572612416 |
MONDO:equivalentTo |
Ataxia due to multiple system atrophy, cerebellar type |
Multiple system atrophy (MSA) is a late-onset, sporadic neurodegenerative disorder clinically characterised by autonomic failure and either poorly levodopa-responsive parkinsonism or cerebellar ataxia. The subtype of MSA with predominance of ataxia due to cerebellar dysfunction is called MSA-C. |
MONDO:0016592 |
| MONDO:0974678 |
distal duplications of the short arm of chromosome 7 |
icd11.foundation:573079946 |
MONDO:equivalentTo |
Distal duplications of the short arm of chromosome 7 |
|
MONDO:0016944 |
| MONDO:0974679 |
junctional epidermolysis bullosa, localised types |
icd11.foundation:573139734 |
MONDO:equivalentTo |
Junctional epidermolysis bullosa, localised types |
Subtypes of junctional epidermolysis bullosa with localised blistering |
MONDO:0017612 |
| MONDO:0974680 |
solitary bone cyst, head |
icd11.foundation:573991004 |
MONDO:equivalentTo |
Solitary bone cyst, head |
|
MONDO:0019372 |
| MONDO:0974681 |
disseminated cutaneous leishmaniasis |
icd11.foundation:574093878 |
MONDO:equivalentTo |
Disseminated cutaneous leishmaniasis |
This is an uncommon form of leishmaniasis reported principally from Brazil, Venezuela, Guyana and Colombia and is associated with L. braziliensis, L. panamensis or L. guayanensis infection. It is defined by the presence of at least ten circumscribed foci of cutaneous leishmaniasis in more than one body surface region. In contrast to diffuse cutaneous leishmaniasis, in which there is anergy to Leishmania, the leishmanin test is positive in most cases, very few parasites are seen on biopsy and the infection may thus respond to appropriate chemotherapy. |
MONDO:0005446 |
| MONDO:0974682 |
complete trisomy 21, meiotic non-disjunction |
icd11.foundation:574177195 |
MONDO:equivalentTo |
Complete trisomy 21, meiotic non-disjunction |
|
MONDO:0008608 |
| MONDO:0974683 |
late-stage age-related macular degeneration |
icd11.foundation:574366657 |
MONDO:equivalentTo |
Late-stage age-related macular degeneration |
|
MONDO:0005150 |
| MONDO:0974684 |
cleft lip, median |
icd11.foundation:574465234 |
MONDO:equivalentTo |
Cleft lip, median |
|
MONDO:0016043 |
| MONDO:0974685 |
acute kidney failure, stage 1 |
icd11.foundation:574502222 |
MONDO:equivalentTo |
Acute kidney failure, stage 1 |
Rate of change of serum creatinine: Increase 1.5-1.9 times baseline within 7 days OR increase by 0.3 mg/dl increase within 48 h OR Magnitude of urine output: <0.5 ml/kg/h for 6-12 hours |
MONDO:0002492 |
| MONDO:0974686 |
maternal uniparental disomy of chromosome 11 |
icd11.foundation:575379449 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 11 |
|
MONDO:0020056 |
| MONDO:0974687 |
inborn errors of purine, pyrimidine or nucleotide metabolism |
icd11.foundation:575400186 |
MONDO:equivalentTo |
Inborn errors of purine, pyrimidine or nucleotide metabolism |
|
MONDO:0019052 |
| MONDO:0974688 |
centralis pulverulenta cataracta |
icd11.foundation:575911084 |
MONDO:equivalentTo |
Centralis pulverulenta cataracta |
|
MONDO:0011060 |
| MONDO:0974689 |
miscellaneous pemphigoid variants |
icd11.foundation:57640176 |
MONDO:equivalentTo |
Miscellaneous pemphigoid variants |
Other specified form of pemphigoid not elsewhere classified. |
MONDO:0850301 |
| MONDO:0974690 |
tuberculosis of nose |
icd11.foundation:576785929 |
MONDO:equivalentTo |
Tuberculosis of nose |
|
MONDO:0957462 |
| MONDO:0974691 |
multicystic renal dysplasia, unilateral |
icd11.foundation:577773168 |
MONDO:equivalentTo |
Multicystic renal dysplasia, unilateral |
Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney, a congenital anomaly of the kidney and urinary tract, in which one kidney is large, distended by multiple cysts, and non-functional. |
MONDO:0015988 |
| MONDO:0974692 |
malaria due to plasmodium falciparum |
icd11.foundation:579583286 |
MONDO:equivalentTo |
Malaria due to Plasmodium falciparum |
A disease caused by an infection with the protozoan parasite Plasmodium falciparum. This disease is characterised by fever, chills, headache, myalgia, arthralgia, weakness, vomiting, or diarrhoea. This disease may also present with splenomegaly, anaemia, thrombocytopenia, hypoglycaemia, pulmonary or renal dysfunction, or neurologic changes. Transmission is through the bite of an infected mosquito. Confirmation is by identification of Plasmodium falciparum in a blood sample. |
MONDO:0005136 |
| MONDO:0974693 |
cardiac secondary systemic amyloidosis |
icd11.foundation:579985911 |
MONDO:equivalentTo |
Cardiac secondary systemic amyloidosis |
This is a cardiac condition that involves the adrenal gland, liver, spleen, and kidney as a result of amyloid deposition due to a chronic disease such as Behet's disease, ulcerative colitis, etc. |
MONDO:0019439 |
| MONDO:0974694 |
benign familial copper deficiency |
icd11.foundation:580108812 |
MONDO:equivalentTo |
Benign familial copper deficiency |
This is a benign familial very rare haematological and neurological disorder. The disease involves a nutritional deficiency in the trace element copper. Copper is ubiquitous and daily requirement is low making acquired copper deficiency very rare. Copper deficiency can manifest in parallel with vitamin B12 and other nutritional deficiencies . |
MONDO:0017762 |
| MONDO:0974695 |
cholera due to vibrio cholerae o1, biovar eltor |
icd11.foundation:581614179 |
MONDO:equivalentTo |
Cholera due to Vibrio cholerae O1, biovar eltor |
|
MONDO:0015766 |
| MONDO:0974696 |
prune belly syndrome, partial form |
icd11.foundation:58166085 |
MONDO:equivalentTo |
Prune belly syndrome, partial form |
|
MONDO:0007032 |
| MONDO:0974697 |
alcohol dependence, current use, continuous |
icd11.foundation:582014993 |
MONDO:equivalentTo |
Alcohol dependence, current use, continuous |
Alcohol dependence with continuous consumption of alcohol (daily or almost daily) over a period of at least 1 month. |
MONDO:0007079 |
| MONDO:0974698 |
central cataract |
icd11.foundation:582372412 |
MONDO:equivalentTo |
Central cataract |
|
MONDO:0011060 |
| MONDO:0974699 |
internuclear ophthalmoplegia, one-and-a-half syndrome |
icd11.foundation:583276612 |
MONDO:equivalentTo |
Internuclear ophthalmoplegia, One-and-a-half syndrome |
|
MONDO:0003417 |
| MONDO:0974700 |
mixed meningioma of unspecified site |
icd11.foundation:583340638 |
MONDO:equivalentTo |
Mixed meningioma of unspecified site |
|
MONDO:0016642 |
| MONDO:0974701 |
juvenile systemic arthritis, pelvic region or thigh |
icd11.foundation:583391819 |
MONDO:equivalentTo |
Juvenile systemic arthritis, pelvic region or thigh |
|
MONDO:0019434 |
| MONDO:0974702 |
primary hyperthyroidism |
icd11.foundation:583743726 |
MONDO:equivalentTo |
Primary hyperthyroidism |
This is a primary condition in which the thyroid gland produces and secretes excessive amounts of the free (not protein bound, and circulating in the blood) thyroid hormones, triiodothyronine (T3) and/or thyroxine (T4). |
MONDO:0010138 |
| MONDO:0974703 |
gonococcal bursitis, shoulder region |
icd11.foundation:584727666 |
MONDO:equivalentTo |
Gonococcal bursitis, shoulder region |
|
MONDO:0001719 |
| MONDO:0974704 |
hallucinogen dependence, early full remission |
icd11.foundation:585026718 |
MONDO:equivalentTo |
Hallucinogen dependence, early full remission |
After a diagnosis of Hallucinogen dependence, and often following a treatment episode or other intervention (including self-help intervention), the individual has been abstinent from hallucinogens during a period lasting between 1 and 12 months. |
MONDO:0004939 |
| MONDO:0974705 |
symbrachydactyly of hands or feet, unilateral |
icd11.foundation:585042148 |
MONDO:equivalentTo |
Symbrachydactyly of hands or feet, unilateral |
|
MONDO:0015516 |
| MONDO:0974706 |
certain specified myofibrillar myopathy |
icd11.foundation:585803264 |
MONDO:equivalentTo |
Certain specified myofibrillar myopathy |
Myofibrillary myopathy consists of a pathological pattern of myofibrillary dissolution and degradation leading in most cases to the accumulation of myotilin, desmin and B-crystallin. Most patients develop weakness in the third to fifth decade, although there are reports of onset in infancy and later in life. Some manifest as a relentlessly progressive adult onset myopathy with or without signs of cardiac involvement, but in others the cardiac signs may the leading or exclusive manifestation with cardiomyopathy, congestive heart failure, heart block and arrhythmias. |
MONDO:0018943 |
| MONDO:0974707 |
basal meningioma |
icd11.foundation:585936104 |
MONDO:equivalentTo |
Basal meningioma |
|
MONDO:0016642 |
| MONDO:0974708 |
limb-girdle muscular dystrophy 1e, gene mapped to 7q |
icd11.foundation:586397197 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 1E, gene mapped to 7q |
Autosomal dominant limb-girdle muscular dystrophy type 1D belongs to a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD 1D is transmitted as an autosomal dominant form. |
MONDO:0015151 |
| MONDO:0974709 |
hordeolum externum upper eyelid |
icd11.foundation:586748093 |
MONDO:equivalentTo |
Hordeolum externum upper eyelid |
This is an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. External styes form on the outside of the lids and can be seen as small red bumps. Internal styes are infections of the meibomian sebaceous glands lining the inside of the eyelids. They also cause a red bump underneath the lid with only generalised redness and swelling visible on the outside. This diagnosis is of the upper eye. |
MONDO:0001642 |
| MONDO:0974710 |
acquired central diabetes due to infiltrative disease |
icd11.foundation:587449571 |
MONDO:equivalentTo |
Acquired central diabetes due to Infiltrative disease |
This refers to an acquired central group of metabolic diseases in which a person has high blood sugar, either because the pancreas does not produce enough insulin, or because cells do not respond to the insulin that is produced. This diagnosis is due to infiltrative disease. |
MONDO:0019846 |
| MONDO:0974711 |
septic endocarditis |
icd11.foundation:588341476 |
MONDO:equivalentTo |
Septic endocarditis |
|
MONDO:0000565 |
| MONDO:0974712 |
brachyolmia type 3 |
icd11.foundation:589025803 |
MONDO:equivalentTo |
Brachyolmia type 3 |
Brachyolmia type 3 is an autosomal dominant, mildly severe form of brachyolmia, a group of rare genetic skeletal disorders, and is characterised by short stature, platyspondyly and severe kyphoscoliosis. |
MONDO:0015262 |
| MONDO:0974713 |
coloboma of lens, bilateral |
icd11.foundation:589499838 |
MONDO:equivalentTo |
Coloboma of lens, bilateral |
|
MONDO:0020355 |
| MONDO:0974714 |
secondary inflammatory optic neuropathy |
icd11.foundation:589500788 |
MONDO:equivalentTo |
Secondary inflammatory optic neuropathy |
This refers to secondary inflammatory damage to the optic nerve due to any cause. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. |
MONDO:0005885 |
| MONDO:0974715 |
chronic congestive heart failure |
icd11.foundation:58978844 |
MONDO:equivalentTo |
Chronic congestive heart failure |
|
MONDO:0005009 |
| MONDO:0974716 |
hypomaturation hypoplastic amelogenesis imperfecta with taurodontism |
icd11.foundation:589929834 |
MONDO:equivalentTo |
Hypomaturation hypoplastic amelogenesis imperfecta with taurodontism |
This is a developmental disorder of the teeth with elongated pulp chambers, enamel hypoplasia, and enamel hypomineralisation. |
MONDO:0019507 |
| MONDO:0974717 |
shigellosis due to shigella flexneri |
icd11.foundation:590158429 |
MONDO:equivalentTo |
Shigellosis due to Shigella flexneri |
A condition caused by an infection with the gram-negative bacteria Shigella flexneri. This condition is characterised by diarrhoea, fever, or stomach cramps. Transmission is commonly by the faecal-oral route, possibly by ingestion of contaminated foods, or direct contact. Confirmation is by identification of Shigella flexneri in a faecal sample. |
MONDO:0019345 |
| MONDO:0974718 |
mitral atresia with imperforate mitral valve |
icd11.foundation:590498493 |
MONDO:equivalentTo |
Mitral atresia with imperforate mitral valve |
A congenital cardiovascular malformation with an imperforate mitral valve; the mitral valve and associated atrioventricular connection/junction are present but the valve is imperforate. |
MONDO:0015249 |
| MONDO:0974719 |
mycosis fungoides, tumour stage |
icd11.foundation:590589956 |
MONDO:equivalentTo |
Mycosis fungoides, tumour stage |
Mycosis fungoides with one or more tumours measuring > 1 cm in diameter |
MONDO:0009691 |
| MONDO:0974720 |
radiculopathy, cervicothoracic region |
icd11.foundation:590623455 |
MONDO:equivalentTo |
Radiculopathy, cervicothoracic region |
|
MONDO:0002959 |
| MONDO:0974721 |
infectious duodenitis |
icd11.foundation:590662611 |
MONDO:equivalentTo |
Infectious duodenitis |
|
MONDO:0004627 |
| MONDO:0974722 |
acute suppurative pharyngitis |
icd11.foundation:591459080 |
MONDO:equivalentTo |
Acute suppurative pharyngitis |
|
MONDO:0020600 |
| MONDO:0974723 |
inguinal adenitis |
icd11.foundation:592262237 |
MONDO:equivalentTo |
Inguinal adenitis |
|
MONDO:0002052 |
| MONDO:0974724 |
acute ulcerative colitis |
icd11.foundation:592540137 |
MONDO:equivalentTo |
Acute ulcerative colitis |
|
MONDO:0005101 |
| MONDO:0974725 |
thickened earlobes - conductive deafness |
icd11.foundation:593530256 |
MONDO:equivalentTo |
Thickened earlobes - conductive deafness |
Thickened earlobes - conductive deafness syndrome is characterised by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. |
MONDO:0019589 |
| MONDO:0974726 |
intermittent hydrarthrosis, head |
icd11.foundation:593563899 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, head |
|
MONDO:0018015 |
| MONDO:0974727 |
periarteritis nodosa with necrosis |
icd11.foundation:593692872 |
MONDO:equivalentTo |
Periarteritis nodosa with necrosis |
|
MONDO:0019170 |
| MONDO:0974728 |
anorchid azoospermia |
icd11.foundation:593946354 |
MONDO:equivalentTo |
Anorchid azoospermia |
Lack of spermatozoa in the semen as a consequence of an bilateral anorchid state. |
MONDO:0100459 |
| MONDO:0974729 |
mesomelic dysplasia, thai type |
icd11.foundation:594111760 |
MONDO:equivalentTo |
Mesomelic dysplasia, Thai type |
|
MONDO:0019697 |
| MONDO:0974730 |
benign neoplasm of anterior mediastinum |
icd11.foundation:594122774 |
MONDO:equivalentTo |
Benign neoplasm of anterior mediastinum |
|
MONDO:0021521 |
| MONDO:0974731 |
male with 46,xx karyotype |
icd11.foundation:594136490 |
MONDO:equivalentTo |
Male with 46,XX karyotype |
A disease affecting males, characterised by hypergonadotropic hypogonadism, testosterone deficiency, and infertility. This condition may also present with hypospadias. This disease may be associated with abnormal crossing over of the sex chromosomes during meiosis in the father, resulting in the SRY gene being present on one or both copies of the X chromosome. |
MONDO:0017005 |
| MONDO:0974732 |
hemangiopericytic meningioma of unspecified site |
icd11.foundation:594879568 |
MONDO:equivalentTo |
Hemangiopericytic meningioma of unspecified site |
|
MONDO:0016642 |
| MONDO:0974733 |
microlissencephaly type b |
icd11.foundation:595766217 |
MONDO:equivalentTo |
Microlissencephaly type B |
Microlissencephaly, type B is characterised by the association of classic lissencephaly with severe microcephaly, severe cerebellar hypoplasia and agenesis of the corpus callosum. |
MONDO:0015204 |
| MONDO:0974734 |
infantile sandhoff disease |
icd11.foundation:596061472 |
MONDO:equivalentTo |
Infantile Sandhoff disease |
|
MONDO:0010006 |
| MONDO:0974735 |
monostotic fibrous dysplasia, forearm |
icd11.foundation:596076456 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, forearm |
|
MONDO:0019665 |
| MONDO:0974736 |
infection by cnidospora |
icd11.foundation:59716790 |
MONDO:equivalentTo |
Infection by cnidospora |
|
MONDO:0005846 |
| MONDO:0974737 |
pygopagus |
icd11.foundation:597215968 |
MONDO:equivalentTo |
Pygopagus |
A condition characterised as conjoined twins that are united at the sacrum. |
MONDO:0958083 |
| MONDO:0974738 |
anagen effluvium |
icd11.foundation:597448549 |
MONDO:equivalentTo |
Anagen effluvium |
Anagen effluvium occurs after any insult to the hair follicle that impairs its mitotic or metabolic activity. Patients present with diffuse hair loss after an exposure to drugs or toxic chemicals. Chemotherapeutic agents are most commonly responsible for hair loss. The most severe hair loss occurs in association with doxorubicin, the nitrosoureas, and cyclophosphamide. Hair loss usually begins 7-14 days after a single pulse of chemotherapy. The hair loss is clinically most apparent after 1-2 months. |
MONDO:0004907 |
| MONDO:0974739 |
mucolipidosis type 4 |
icd11.foundation:597963317 |
MONDO:equivalentTo |
Mucolipidosis type 4 |
Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. |
MONDO:0019248 |
| MONDO:0974740 |
progressive myopia |
icd11.foundation:598372717 |
MONDO:equivalentTo |
Progressive myopia |
|
MONDO:0001384 |
| MONDO:0974741 |
allergic rhinitis due to specified allergens |
icd11.foundation:598453127 |
MONDO:equivalentTo |
Allergic rhinitis due to specified allergens |
This condition is an allergic inflammation of the nasal airways. It occurs when an allergen, such as pollen and dust mite, is inhaled by an individual with a sensitized immune system. |
MONDO:0011786 |
| MONDO:0974742 |
measles complicated by pneumonia |
icd11.foundation:598779891 |
MONDO:equivalentTo |
Measles complicated by pneumonia |
A disease caused by an infection with Morbillivirus that is complicated by an infection in the lungs. This disease is characterised by symptoms of measles as well as inflammation of the lungs. This disease may also present with cough, fever, chills, or dyspnoea. Transmission is by inhalation of infected respiratory secretions, airborne transmission, or direct contact. Confirmation is by detection of Morbillivirus RNA or measles-specific IgM antibodies. |
MONDO:0006012 |
| MONDO:0974743 |
cerebroretinal vasculopathy |
icd11.foundation:59898211 |
MONDO:equivalentTo |
Cerebroretinal vasculopathy |
Cerebroretinal vasculopathy is an autosomal dominant condition characterised by central nervous system degeneration and retinal vasculopathy leading to progressive loss of vision, together with weakness and pain in lower legs. |
MONDO:0008641 |
| MONDO:0974744 |
benign neoplasm of pylorus of stomach |
icd11.foundation:600176474 |
MONDO:equivalentTo |
Benign neoplasm of pylorus of stomach |
|
MONDO:0021449 |
| MONDO:0974745 |
drug-induced myasthenia gravis |
icd11.foundation:600370025 |
MONDO:equivalentTo |
Drug-induced myasthenia gravis |
Some drugs can have clear effects on Myasthenia Gravis, including Neuromuscular junction blockers, antibiotics, prednisone, chloroquine, D-penicillamine, interferons, and others. In rapid-onset drug-induced Myasthenia Gravis, myasthenic signs develop within days which rapidly disappear after drug withdrawal. Anti-Acetylcholinesterase antibodies are absent. This disorder may unmask a pre-existing neuromuscular transmission disorder or may exacerbate pre-existing Myasthenia Gravis, i.e. subclinical Myasthenia Gravis becomes manifest after drug treatment, or known MG becomes more severe. Certain drugs are linked with aggravation of Myasthenia Gravis, including pain management medications, tricyclic antidepressants and some antiepileptic medications, and should be used with caution. |
MONDO:0009688 |
| MONDO:0974746 |
carcinoma in situ of posterior wall of nasopharynx |
icd11.foundation:600405042 |
MONDO:equivalentTo |
Carcinoma in situ of posterior wall of nasopharynx |
|
MONDO:0021297 |
| MONDO:0974747 |
primary respiratory tuberculosis without mention of bacteriological or histological confirmation |
icd11.foundation:60063379 |
MONDO:equivalentTo |
Primary respiratory tuberculosis without mention of bacteriological or histological confirmation |
This is a common, and in many cases lethal, infectious disease of the respiratory caused by various strains of mycobacteria, usually Mycobacterium tuberculosis. This diagnosis is without mention of bacteriological or histological confirmation. |
MONDO:0957462 |
| MONDO:0974748 |
hypertensive heart disease with heart failure |
icd11.foundation:600660459 |
MONDO:equivalentTo |
Hypertensive heart disease with heart failure |
Congestive Heart failure is a common complication of prolonged hypertension. |
MONDO:0001302 |
| MONDO:0974749 |
frontonasal dysplasia - klippel-feil syndrome |
icd11.foundation:600851826 |
MONDO:equivalentTo |
Frontonasal dysplasia - Klippel-Feil syndrome |
|
MONDO:0019711 |
| MONDO:0974750 |
secondary dental caries |
icd11.foundation:601327959 |
MONDO:equivalentTo |
Secondary dental caries |
Carious lesion that develops on tooth structure underneath or contiguous to an existing restoration |
MONDO:0005276 |
| MONDO:0974751 |
proximal deletions of the long arm of chromosome 1 |
icd11.foundation:601979431 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 1 |
|
MONDO:0022756 |
| MONDO:0974752 |
recessive intermediate charcot-marie-tooth disease |
icd11.foundation:602076002 |
MONDO:equivalentTo |
Recessive intermediate Charcot-Marie-Tooth disease |
|
MONDO:0018778 |
| MONDO:0974753 |
intermittent hydrarthrosis, ankle or foot |
icd11.foundation:602748921 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, ankle or foot |
|
MONDO:0018015 |
| MONDO:0974754 |
intermediate osteopetrosis |
icd11.foundation:602779286 |
MONDO:equivalentTo |
Intermediate osteopetrosis |
|
MONDO:0017198 |
| MONDO:0974755 |
ehlers-danlos syndrome of undetermined or unspecified type |
icd11.foundation:602878811 |
MONDO:equivalentTo |
Ehlers-Danlos syndrome of undetermined or unspecified type |
|
MONDO:0020066 |
| MONDO:0974756 |
complete duplication of urethra |
icd11.foundation:602887673 |
MONDO:equivalentTo |
Complete duplication of urethra |
|
MONDO:0016529 |
| MONDO:0974757 |
diphtheritic croup |
icd11.foundation:603101098 |
MONDO:equivalentTo |
Diphtheritic croup |
|
MONDO:0020863 |
| MONDO:0974758 |
activation-induced cytidine deaminase deficiency |
icd11.foundation:603312357 |
MONDO:equivalentTo |
Activation-induced cytidine deaminase deficiency |
This is a rare disease with the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centres. |
MONDO:0018040 |
| MONDO:0974759 |
glucosyltransferase 1 deficiency |
icd11.foundation:603963810 |
MONDO:equivalentTo |
Glucosyltransferase 1 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ic is characterised by psychomotor delay and muscular hypotonia. It has been described in more than 30 individuals so far. Hepatic and intestinal manifestations were also often reported. Coagulation anomalies, hormonal abnormalities and seizures may also be present and life-threatening. The syndrome is caused by mutations in the ALG6 gene (localised to the q22.3 region of chromosome 1) leading to a deficiency of the endoplasmic reticulum enzyme alpha1,3-glucosyltransferase. |
MONDO:0017740 |
| MONDO:0974760 |
diabetic glaucoma |
icd11.foundation:604005609 |
MONDO:equivalentTo |
Diabetic glaucoma |
|
MONDO:0019783 |
| MONDO:0974761 |
genetic congenital retinal dysplasia |
icd11.foundation:604454870 |
MONDO:equivalentTo |
Genetic congenital retinal dysplasia |
|
MONDO:0020247 |
| MONDO:0974762 |
tricuspid atresia with absent valvar annulus |
icd11.foundation:60494995 |
MONDO:equivalentTo |
Tricuspid atresia with absent valvar annulus |
A congenital cardiovascular malformation with absence of the tricuspid valve and its associated annulus (connection or junction). |
MONDO:0011514 |
| MONDO:0974763 |
hemianencephaly |
icd11.foundation:605355634 |
MONDO:equivalentTo |
Hemianencephaly |
|
MONDO:0000819 |
| MONDO:0974764 |
platinum asthma |
icd11.foundation:605629568 |
MONDO:equivalentTo |
Platinum asthma |
|
MONDO:0004784 |
| MONDO:0974765 |
simultoagnosia |
icd11.foundation:606456772 |
MONDO:equivalentTo |
Simultoagnosia |
Peripheral visual inattention, bilateral visual inattention: failure to attend to more than one component of a visual array searchlight vision} |
MONDO:0018211 |
| MONDO:0974766 |
vesicoureteral reflux with scarring |
icd11.foundation:607589343 |
MONDO:equivalentTo |
Vesicoureteral reflux with scarring |
|
MONDO:0006007 |
| MONDO:0974767 |
autosomal recessive cardiomyopathy or ophthalmoplegia |
icd11.foundation:607844076 |
MONDO:equivalentTo |
Autosomal recessive cardiomyopathy or ophthalmoplegia |
Autosomal recessive cardiomyopathy and ophthalmoplegia is a childhood-onset disease characterised by progressive external ophthalmoplegia, mild facial and proximal limb weakness, and severe cardiomyopathy. Muscle biopsies show ragged-red and cytochrome C oxidase-negative fibres; the activities of several complexes in the electron-transport chain are decreased. The combination of progressive external ophthalmoplegia, cardiomyopathy, and multiple mtDNA deletions is thought to be due to a defect of communication between the nuclear and mitochondrial genomes. |
MONDO:0009637 |
| MONDO:0974768 |
hypothalamic infantilism with obesity syndrome |
icd11.foundation:60813576 |
MONDO:equivalentTo |
Hypothalamic infantilism with obesity syndrome |
|
MONDO:0015127 |
| MONDO:0974769 |
high anorectal malformation with fistula |
icd11.foundation:608172246 |
MONDO:equivalentTo |
High anorectal malformation with fistula |
This is a type of anorectal atresia. This is a high lesion, in which the colon is higher up in the pelvis and cul-de-sac above the level of the pubococcygeal line. There is a rectovesical or rectourethral (high rectovaginal or rectocloacal in female) fistula. Most high anomalies in girls are cloacas. |
MONDO:0015731 |
| MONDO:0974770 |
hereditary afibrinogenaemia |
icd11.foundation:608641873 |
MONDO:equivalentTo |
Hereditary afibrinogenaemia |
Familial afibrinogenaemia is a coagulation disorder characterised by bleeding symptoms due to a complete absence of circulating fibrinogen. |
MONDO:0018060 |
| MONDO:0974771 |
3-hydroxy 3-methylglutaryl-coa lyase deficiency |
icd11.foundation:608791742 |
MONDO:equivalentTo |
3-hydroxy 3-methylglutaryl-CoA lyase deficiency |
3-hydroxy-3-methylglutaric aciduria is an organic aciduria due to 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency, a key enzyme in ketogenesis and in leucine metabolism. Onset occurs in infancy with transient acidosis and hypoglycaemia, hypotonia and vomiting triggered by periods of fasting or infections. |
MONDO:0019229 |
| MONDO:0974772 |
acute pulmonary insufficiency following nonthoracic surgery |
icd11.foundation:608872216 |
MONDO:equivalentTo |
Acute pulmonary insufficiency following nonthoracic surgery |
|
MONDO:0001208 |
| MONDO:0974773 |
non-sustained ventricular tachycardia |
icd11.foundation:609527868 |
MONDO:equivalentTo |
Non-sustained ventricular tachycardia |
Ventricular tachycardia lasting less than or equal to 30 seconds |
MONDO:0005477 |
| MONDO:0974774 |
entomophobia |
icd11.foundation:611509045 |
MONDO:equivalentTo |
Entomophobia |
|
MONDO:0012000 |
| MONDO:0974775 |
radiculopathy, lumbosacral region |
icd11.foundation:611840438 |
MONDO:equivalentTo |
Radiculopathy, lumbosacral region |
|
MONDO:0002959 |
| MONDO:0974776 |
mansonelliasis due to mansonella ozzardi |
icd11.foundation:611851027 |
MONDO:equivalentTo |
Mansonelliasis due to Mansonella ozzardi |
|
MONDO:0005838 |
| MONDO:0974777 |
recurrent acute tonsillitis |
icd11.foundation:611884487 |
MONDO:equivalentTo |
Recurrent acute tonsillitis |
|
MONDO:0020686 |
| MONDO:0974778 |
restrictive cardiomyopathy due to endomyocardial abnormality |
icd11.foundation:612301769 |
MONDO:equivalentTo |
Restrictive cardiomyopathy due to endomyocardial abnormality |
Restrictive cardiomyopathy due to endomyocardial abnormality is restrictive cardiomyopathy related to a primary fibrosis involving the endocardial and myocardial layers of one or both ventricular chambers, with aggressive scarring obliterating the ventricular apices and subvalvar regions. Subclassification relates to the presence or not of hypereosinophilia, as well as geographic presentation (temperate versus tropical). |
MONDO:0016345 |
| MONDO:0974779 |
chronic urticaria due to pseudoallergy |
icd11.foundation:613017989 |
MONDO:equivalentTo |
Chronic urticaria due to pseudoallergy |
Chronic urticaria caused by food or drug intolerance. |
MONDO:0850230 |
| MONDO:0974780 |
ectodermal dysplasia, berlin type |
icd11.foundation:613435559 |
MONDO:equivalentTo |
Ectodermal dysplasia, Berlin type |
|
MONDO:0019287 |
| MONDO:0974781 |
glycogen storage disease due to phosphoglucomutase deficiency |
icd11.foundation:614045107 |
MONDO:equivalentTo |
Glycogen storage disease due to phosphoglucomutase deficiency |
Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterised by recurrent cramps during exercise from the first years of life with . |
MONDO:0002412 |
| MONDO:0974782 |
type 1 igg4 related autoimmune pancreatitis |
icd11.foundation:614401663 |
MONDO:equivalentTo |
Type 1 IgG4 related autoimmune pancreatitis |
This is an inflammation of the pancreas that is the pancreatic manifestation of immunoglobulin G4-associated systemic diseases. |
MONDO:0017287 |
| MONDO:0974783 |
partial congenital cataract |
icd11.foundation:614690412 |
MONDO:equivalentTo |
Partial congenital cataract |
|
MONDO:0011060 |
| MONDO:0974784 |
nasopharyngeal myiasis |
icd11.foundation:615179438 |
MONDO:equivalentTo |
Nasopharyngeal myiasis |
|
MONDO:0019147 |
| MONDO:0974785 |
hypertensive retinopathy, stage 1, mild arteriolar narrowing, broadening of arteriolar light reflex |
icd11.foundation:615324153 |
MONDO:equivalentTo |
Hypertensive Retinopathy, Stage 1, mild arteriolar narrowing, broadening of arteriolar light reflex |
|
MONDO:0006797 |
| MONDO:0974786 |
intermittent hydrarthrosis, forearm |
icd11.foundation:615445650 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, forearm |
|
MONDO:0018015 |
| MONDO:0974787 |
tuberculous infection of bile duct |
icd11.foundation:61552199 |
MONDO:equivalentTo |
Tuberculous infection of bile duct |
Cholangitis caused by the bile duct infection of Mycobacterium tuberculosis. |
MONDO:0957466 |
| MONDO:0974788 |
weber-christian relapsing panniculitis |
icd11.foundation:616271186 |
MONDO:equivalentTo |
Weber-Christian relapsing panniculitis |
|
MONDO:0006591 |
| MONDO:0974789 |
meckel diverticulum without complication |
icd11.foundation:616365450 |
MONDO:equivalentTo |
Meckel diverticulum without complication |
A congenital abnormality characterised by the outpouching or sac formation in the ileum as a remnant of the embryonic yolk sac, without complication. |
MONDO:0007955 |
| MONDO:0974790 |
monostotic fibrous dysplasia, ankle or foot |
icd11.foundation:616867011 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, ankle or foot |
|
MONDO:0019665 |
| MONDO:0974791 |
acute biliary pancreatitis |
icd11.foundation:617067020 |
MONDO:equivalentTo |
Acute biliary pancreatitis |
Acute pancreatitis associated with gallstone. Although gallstone is a major etiology, the diagnosis should be made after exclusion of other etiologies. Bile reflux into pancreatic duct caused by an impacted stone at the duodenal papilla is assumed to be a cause. |
MONDO:0006515 |
| MONDO:0974792 |
congenital absence of coronary artery |
icd11.foundation:617293420 |
MONDO:equivalentTo |
Congenital absence of coronary artery |
A congenital cardiac malformation in which a right, left main, interventricular, or circumflex coronary artery is not present in its anticipated epicardial course. |
MONDO:0015203 |
| MONDO:0974793 |
brachial neuritis |
icd11.foundation:617667355 |
MONDO:equivalentTo |
Brachial neuritis |
|
MONDO:0002959 |
| MONDO:0974794 |
monosutural craniosynostosis |
icd11.foundation:617966967 |
MONDO:equivalentTo |
Monosutural craniosynostosis |
|
MONDO:0015469 |
| MONDO:0974795 |
ketosis-resistant diabetes mellitus |
icd11.foundation:618467158 |
MONDO:equivalentTo |
Ketosis-resistant diabetes mellitus |
|
MONDO:0005148 |
| MONDO:0974796 |
familial hyperthyroidism |
icd11.foundation:61887254 |
MONDO:equivalentTo |
Familial hyperthyroidism |
A familial condition where the thyroid gland produces and secretes excessive amounts of the free (not protein bound, and circulating in the blood) thyroid hormones, triiodothyronine (T3) and/or thyroxine (T4). |
MONDO:0010138 |
|
|
|
|
|
|
|
|
|
|
|
|
Familial hyperthyroidism includes hereditary hyperthyroidism due to mutations in TSH receptor or selective pituitary resistance to thyroid hormone. |
|
| MONDO:0974797 |
criminalism behavioural disorder |
icd11.foundation:619533873 |
MONDO:equivalentTo |
Criminalism behavioural disorder |
|
MONDO:0001164 |
| MONDO:0974798 |
hypomyopathic dermatomyositis |
icd11.foundation:619606071 |
MONDO:equivalentTo |
Hypomyopathic dermatomyositis |
Hypomyopathic dermatomyositis is a rare subset of dermatomyositis characterised by a lack of subjective symptoms but with subclinical evidence of muscle inflammation on muscle biopsy, electromyography, or other procedures. |
MONDO:0001907 |
| MONDO:0974799 |
lorain dwarfism |
icd11.foundation:619635379 |
MONDO:equivalentTo |
Lorain dwarfism |
|
MONDO:0005152 |
| MONDO:0974800 |
invasive aspergillosis of the ear or mastoid |
icd11.foundation:619725280 |
MONDO:equivalentTo |
Invasive aspergillosis of the ear or mastoid |
|
MONDO:0000240 |
| MONDO:0974801 |
amyotrophic lateral sclerosis-plus |
icd11.foundation:620164044 |
MONDO:equivalentTo |
Amyotrophic lateral sclerosis-Plus |
This category represents a group of disorders with motor symptoms of ALS and superimposed features of dysfunction of other neurological systems, such as extrapyramidal, cerebellar or cognitive dysfunction. |
MONDO:0020128 |
| MONDO:0974802 |
thyrotoxicosis with certain specified conditions |
icd11.foundation:620262903 |
MONDO:equivalentTo |
Thyrotoxicosis with certain specified conditions |
This occur by the ingestion of excessive amounts of exogenous thyroid hormone in the form of thyroid hormone supplements such as the most widely used supplement levothyroxine. |
MONDO:0010138 |
| MONDO:0974803 |
benign neoplasm of cardiac orifice |
icd11.foundation:62027768 |
MONDO:equivalentTo |
Benign neoplasm of cardiac orifice |
|
MONDO:0021449 |
| MONDO:0974804 |
idiopathic aseptic osteonecrosis, forearm |
icd11.foundation:62071242 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, forearm |
|
MONDO:0018380 |
| MONDO:0974805 |
acute apical periodontitis of pulpal origin |
icd11.foundation:622432774 |
MONDO:equivalentTo |
Acute apical periodontitis of pulpal origin |
Acute, apical periodontitis is a result of inflammation of the periapical tissues following pulpal necrosis. |
MONDO:0004508 |
| MONDO:0974806 |
glycogen storage disease due to glycogenin deficiency |
icd11.foundation:623301128 |
MONDO:equivalentTo |
Glycogen storage disease due to glycogenin deficiency |
Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. |
MONDO:0002412 |
| MONDO:0974807 |
acrokeratosis verruciformis of darier |
icd11.foundation:62341618 |
MONDO:equivalentTo |
Acrokeratosis verruciformis of Darier |
A localised form of Darier disease confined to acral sites, with multiple flesh-coloured or lightly pigmented papules resembling plane warts on the dorsa of the hands and feet. There may be associated abnormalities affecting the palms and the nails as in Darier disease. |
MONDO:0007417 |
| MONDO:0974808 |
renal retinitis |
icd11.foundation:624340841 |
MONDO:equivalentTo |
Renal retinitis |
|
MONDO:0001280 |
| MONDO:0974809 |
anomalous aortic origin or course of coronary artery |
icd11.foundation:624468809 |
MONDO:equivalentTo |
Anomalous aortic origin or course of coronary artery |
A congenital cardiovascular malformation in which the origin and/or course of a coronary artery is abnormal. |
MONDO:0015203 |
|
|
|
|
|
|
|
|
|
|
|
|
This is where coronary "anomalies" in the presence of discordant ventriculo-arterial connections should be coded. |
|
| MONDO:0974810 |
larsen-like osseous dysplasia - short stature |
icd11.foundation:624625365 |
MONDO:equivalentTo |
Larsen-like osseous dysplasia - short stature |
|
MONDO:0800086 |
| MONDO:0974811 |
ergosterol deficiency |
icd11.foundation:624648964 |
MONDO:equivalentTo |
Ergosterol deficiency |
|
MONDO:0100471 |
| MONDO:0974812 |
nocturnal and diurnal enuresis |
icd11.foundation:624858749 |
MONDO:equivalentTo |
Nocturnal and diurnal enuresis |
Nocturnal and diurnal enuresis refers to repeated voiding of urine into clothes or bed that occurs both during sleep (i.e., during the night) and during waking hours in an individual who has reached a developmental age when urinary continence is ordinarily expected (5 years). The urinary incontinence may have been present from birth (i.e., an atypical extension of normal infantile incontinence), or may have arisen following a period of acquired bladder control. In most cases, the behaviour is involuntary but in some cases it appears intentional. |
MONDO:0024290 |
| MONDO:0974813 |
schizophrenia, first episode |
icd11.foundation:625636921 |
MONDO:equivalentTo |
Schizophrenia, first episode |
Schizophrenia, first episode should be used to identify individuals experiencing symptoms that meet the diagnostic requirements for Schizophrenia (including duration) but who have never before experienced an episode during which diagnostic requirements for Schizophrenia were met. |
MONDO:0005090 |
| MONDO:0974814 |
extrapulmonary paracoccidioidomycosis |
icd11.foundation:626823244 |
MONDO:equivalentTo |
Extrapulmonary paracoccidioidomycosis |
Paracoccidioidomycosis of any single organ other than lungs. Lung involvement should be ruled out by extensive imaging and microbiological investigation. |
MONDO:0005894 |
| MONDO:0974815 |
glutaric aciduria type 3 |
icd11.foundation:627751573 |
MONDO:equivalentTo |
Glutaric aciduria type 3 |
Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive. |
MONDO:0019053 |
| MONDO:0974816 |
proximal deletions of the short arm of chromosome 3 |
icd11.foundation:628233894 |
MONDO:equivalentTo |
Proximal deletions of the short arm of chromosome 3 |
|
MONDO:0016885 |
| MONDO:0974817 |
centronuclear myopathy with type i fibre hypotrophy |
icd11.foundation:629192160 |
MONDO:equivalentTo |
Centronuclear myopathy with type I fibre hypotrophy |
Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. |
MONDO:0018947 |
| MONDO:0974818 |
primary progressive visual-spatial impairment |
icd11.foundation:629275507 |
MONDO:equivalentTo |
Primary progressive visual-spatial impairment |
A type of posterior cortical atrophy that is associated with degeneration of the parietal and/or occipital lobes leading to isolated deficits in primary and higher order visual perception, including alexia (inability to read), simultagnosia (ability to recognize two objects simultaneously), and neglect (inattention to part of the visual field). It is most commonly associated with Alzheimer disease, but also Lewy body disease, corticobasal degeneration, and others. |
MONDO:0018899 |
| MONDO:0974819 |
monostotic fibrous dysplasia, neck |
icd11.foundation:629354645 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, neck |
|
MONDO:0019665 |
| MONDO:0974820 |
other secondary pulmonary hypertension |
icd11.foundation:629413906 |
MONDO:equivalentTo |
Other secondary pulmonary hypertension |
Secondary pulmonary hypertension is increased pressure of the blood vessels of the lungs as a result of other medical conditions which pulmonary hypertension is caused by another disease process or cardiac defect to a primary diagnosis (known cause). These include scleroderma, CREST syndrome, systemic lupus erythametous, and mixed connective tissue disease. |
MONDO:0005149 |
| MONDO:0974821 |
juvenile systemic arthritis, shoulder region |
icd11.foundation:629545248 |
MONDO:equivalentTo |
Juvenile systemic arthritis, shoulder region |
|
MONDO:0019434 |
| MONDO:0974822 |
juvenile psoriatic arthritis, ana negative |
icd11.foundation:629578902 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, ANA negative |
|
MONDO:0019436 |
| MONDO:0974823 |
solitary papular angiokeratoma |
icd11.foundation:629786462 |
MONDO:equivalentTo |
Solitary papular angiokeratoma |
Solitary angiokeratomas consist of small, warty, black, well-circumscribed papules. They are thought to be the result of injury, trauma, or chronic irritation to the wall of a venule in the papillary dermis. Due to their colour, these lesions may be clinically confused with malignant melanoma. |
MONDO:0003143 |
| MONDO:0974824 |
budd-chiari syndrome with hepatic vein embolism |
icd11.foundation:630528930 |
MONDO:equivalentTo |
Budd-Chiari syndrome with hepatic vein embolism |
|
MONDO:0010947 |
| MONDO:0974825 |
proximal duplications of the short arm of chromosome 6 |
icd11.foundation:630782138 |
MONDO:equivalentTo |
Proximal duplications of the short arm of chromosome 6 |
|
MONDO:0016943 |
| MONDO:0974826 |
gonococcal bursitis, pelvic region or thigh |
icd11.foundation:630849307 |
MONDO:equivalentTo |
Gonococcal bursitis, pelvic region or thigh |
|
MONDO:0001719 |
| MONDO:0974827 |
fetal lower urinary tract obstruction due to atresia of urethra |
icd11.foundation:630937425 |
MONDO:equivalentTo |
Fetal lower urinary tract obstruction due to atresia of urethra |
|
MONDO:0018559 |
| MONDO:0974828 |
proximal deletions of the long arm of chromosome 11 |
icd11.foundation:631195315 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 11 |
|
MONDO:0016910 |
| MONDO:0974829 |
oral-facial-digital syndrome type 12 |
icd11.foundation:631316217 |
MONDO:equivalentTo |
Oral-facial-digital syndrome type 12 |
|
MONDO:0015375 |
| MONDO:0974830 |
generalised pustular psoriasis |
icd11.foundation:632162554 |
MONDO:equivalentTo |
Generalised pustular psoriasis |
An inflammatory form of psoriasis characterised by the presence of widely distributed areas of visible sterile pustulation. |
MONDO:0022205 |
| MONDO:0974831 |
sylvatic rabies |
icd11.foundation:632355134 |
MONDO:equivalentTo |
Sylvatic rabies |
|
MONDO:0019173 |
| MONDO:0974832 |
limb-girdle myasthenia, familial |
icd11.foundation:632700589 |
MONDO:equivalentTo |
Limb-girdle myasthenia, familial |
Familial limb-girdle myasthenia becomes manifest at various ages (birth to 3rd decade). There is weakness of the face, ptosis, proximal and axial muscles, respiratory muscles. Proximal more than distal. Mutations in GFPT1, DPAGT1, ALG2, ALG14 and DOK-7 give rise to this phenotype. |
MONDO:0018940 |
| MONDO:0974833 |
infection due to sparganum proliferum |
icd11.foundation:633466923 |
MONDO:equivalentTo |
Infection due to Sparganum proliferum |
|
MONDO:0005963 |
| MONDO:0974834 |
leber's idiopathic stellate neuroretinitis |
icd11.foundation:633520884 |
MONDO:equivalentTo |
Leber's idiopathic stellate neuroretinitis |
|
MONDO:0000958 |
| MONDO:0974835 |
benign ethnic neutropaenia |
icd11.foundation:633532984 |
MONDO:equivalentTo |
Benign ethnic neutropaenia |
|
MONDO:0015134 |
| MONDO:0974836 |
bacterial ulcer of cornea |
icd11.foundation:633675638 |
MONDO:equivalentTo |
Bacterial ulcer of cornea |
|
MONDO:0004577 |
| MONDO:0974837 |
pestis minor |
icd11.foundation:633677991 |
MONDO:equivalentTo |
Pestis minor |
|
MONDO:0019095 |
| MONDO:0974838 |
retinopathy of prematurity, stage 2 |
icd11.foundation:634205151 |
MONDO:equivalentTo |
Retinopathy of prematurity, Stage 2 |
Stage 2: Ridge: The ridge arises from the demarcation line and has height and width, which extends above the plane of the retina. The ridge may change from white to pink and vessels may leave the plane of the retina posterior to the ridge to enter it. Small isolated tufts of neovascular tissue lying on the surface of the retina, commonly called "popcorn" may be seen posterior to this ridge structure and do not constitute the degree of fibrovascular growth that is a necessary condition for stage 3. |
MONDO:0006952 |
| MONDO:0974839 |
progressive neuropathic muscular atrophy |
icd11.foundation:634236882 |
MONDO:equivalentTo |
Progressive neuropathic muscular atrophy |
|
MONDO:0015358 |
| MONDO:0974840 |
hibernoma of unspecified site |
icd11.foundation:634596782 |
MONDO:equivalentTo |
Hibernoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0974841 |
exencephaly |
icd11.foundation:63504770 |
MONDO:equivalentTo |
Exencephaly |
|
MONDO:0000819 |
| MONDO:0974842 |
axonal peroneal muscular atrophy |
icd11.foundation:635265776 |
MONDO:equivalentTo |
Axonal peroneal muscular atrophy |
|
MONDO:0015358 |
| MONDO:0974843 |
cochlear otosclerosis |
icd11.foundation:635285404 |
MONDO:equivalentTo |
Cochlear otosclerosis |
|
MONDO:0005349 |
| MONDO:0974844 |
accessory carpal bone |
icd11.foundation:635404781 |
MONDO:equivalentTo |
Accessory carpal bone |
|
MONDO:0017429 |
| MONDO:0974845 |
mixed phenotype acute leukaemias, t and myeloid, not elsewhere classified |
icd11.foundation:635542523 |
MONDO:equivalentTo |
Mixed phenotype acute leukaemias, T and myeloid, not elsewhere classified |
|
MONDO:0019460 |
| MONDO:0974846 |
polyneuropathy in unspecified cystic fibrosis |
icd11.foundation:636233679 |
MONDO:equivalentTo |
Polyneuropathy in unspecified cystic fibrosis |
|
MONDO:0009061 |
| MONDO:0974847 |
familial hyperreninaemic hypoaldosteronism type 1 |
icd11.foundation:637066944 |
MONDO:equivalentTo |
Familial hyperreninaemic hypoaldosteronism type 1 |
|
MONDO:0018541 |
| MONDO:0974848 |
nonspecific mesenteric lymphadenitis |
icd11.foundation:637335249 |
MONDO:equivalentTo |
Nonspecific mesenteric lymphadenitis |
#DRAFT# This is a term meaning nonspecific disease of the lymph nodes. It is, however, almost synonymously used with swollen/enlarged lymph nodes. It could be due to infection, auto-immune disease, or malignancy. |
MONDO:0002052 |
| MONDO:0974849 |
absence of oesophagus |
icd11.foundation:637336882 |
MONDO:equivalentTo |
Absence of oesophagus |
A developmental defect of the upper gastrointestinal tract in which there is a loss of oesophagus (agenesis). |
MONDO:0019513 |
| MONDO:0974850 |
calciferol deficiency |
icd11.foundation:637974297 |
MONDO:equivalentTo |
Calciferol deficiency |
|
MONDO:0100471 |
| MONDO:0974851 |
atrophic senile macular degeneration |
icd11.foundation:639168546 |
MONDO:equivalentTo |
Atrophic senile macular degeneration |
|
MONDO:0005150 |
| MONDO:0974852 |
alternating esotropia with v pattern |
icd11.foundation:639927073 |
MONDO:equivalentTo |
Alternating esotropia with V pattern |
|
MONDO:0004896 |
| MONDO:0974853 |
glottic congenital laryngeal web |
icd11.foundation:640099262 |
MONDO:equivalentTo |
Glottic congenital laryngeal web |
|
MONDO:0007880 |
| MONDO:0974854 |
verrucous carcinoma of hypopharynx |
icd11.foundation:641633356 |
MONDO:equivalentTo |
Verrucous carcinoma of hypopharynx |
|
MONDO:0044638 |
| MONDO:0974855 |
scedosporium apiospermum infection |
icd11.foundation:642563225 |
MONDO:equivalentTo |
Scedosporium apiospermum infection |
|
MONDO:0018668 |
| MONDO:0974856 |
tuberculous polyneuropathy |
icd11.foundation:64286836 |
MONDO:equivalentTo |
Tuberculous polyneuropathy |
|
MONDO:0005696 |
| MONDO:0974857 |
hemihydranencephaly |
icd11.foundation:642941159 |
MONDO:equivalentTo |
Hemihydranencephaly |
|
MONDO:0016344 |
| MONDO:0974858 |
hallucinogen dependence, sustained partial remission |
icd11.foundation:644045474 |
MONDO:equivalentTo |
Hallucinogen dependence, sustained partial remission |
After a diagnosis of Hallucinogen dependence, and often following a treatment episode or other intervention (including self-help intervention), there is a significant reduction in hallucinogen consumption for more than 12 months, such that even though intermittent or continuing hallucinogen use has occurred during this period, the definitional requirements for dependence have not been met. |
MONDO:0004939 |
| MONDO:0974859 |
osteochondrosis of calcaneum |
icd11.foundation:644175396 |
MONDO:equivalentTo |
Osteochondrosis of calcaneum |
|
MONDO:0018381 |
| MONDO:0974860 |
immunodeficiency with masp-2 deficiency |
icd11.foundation:644800909 |
MONDO:equivalentTo |
Immunodeficiency with MASP-2 deficiency |
This is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with MASP-2 deficiency. |
MONDO:0015136 |
| MONDO:0974861 |
accelerated essential hypertension |
icd11.foundation:644961579 |
MONDO:equivalentTo |
Accelerated essential hypertension |
Accelerated hypertension is the state in which blood pressure rises to hypertensive levels and above cover a relatively short time period. (see hypertensive crisis) |
MONDO:0001134 |
| MONDO:0974862 |
secondary renal dysplasia |
icd11.foundation:64535851 |
MONDO:equivalentTo |
Secondary renal dysplasia |
A condition characterised by abnormal development of one or both kidneys as a consequence of another disorder that has an impact on the kidneys, such as in utero urinary tract obstruction or hereditary or multi-system syndrome. |
MONDO:0019638 |
| MONDO:0974863 |
ataxia due to paraneoplastic cerebellar degeneration |
icd11.foundation:64596902 |
MONDO:equivalentTo |
Ataxia due to paraneoplastic cerebellar degeneration |
Ataxia which is due to the remote effect of an occult and can pre-date the diagnosis of cancer. Malignancies commonly implicated include breast, ovarian, small cell lung cancer and Hodgkin's lymphoma. A range of onconeural antibodies associated with the cancers cause the syndrome. |
MONDO:0016593 |
| MONDO:0974864 |
ectodermal dysplasia - cutaneous syndactyly syndrome |
icd11.foundation:645974070 |
MONDO:equivalentTo |
Ectodermal dysplasia - cutaneous syndactyly syndrome |
|
MONDO:0019287 |
| MONDO:0974865 |
camptodactyly of fingers, bilateral |
icd11.foundation:646352344 |
MONDO:equivalentTo |
Camptodactyly of fingers, bilateral |
|
MONDO:0007250 |
| MONDO:0974866 |
alexander disease juvenile form |
icd11.foundation:646725040 |
MONDO:equivalentTo |
Alexander disease juvenile form |
Neurodegenerative disorder occurring in school-aged children with common signs including spastic paraplegia and progressive bulbar signs. |
MONDO:0008752 |
| MONDO:0974867 |
b lymphoblastic leukaemia or lymphoma with t(5;14)(q31;q32)(il3-igh) |
icd11.foundation:64727384 |
MONDO:equivalentTo |
B lymphoblastic leukaemia or lymphoma with t(5;14)(q31;q32)(IL3-IGH) |
A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14. It results in eosinophilia. |
MONDO:0020511 |
| MONDO:0974868 |
anorexia nervosa with dangerously low body weight |
icd11.foundation:647582417 |
MONDO:equivalentTo |
Anorexia Nervosa with dangerously low body weight |
Anorexia Nervosa with dangerously low body weight meets all definitional requirements for Anorexia Nervosa, with BMI under 14.0 kg/m in adults or under the 0.3rd percentile for BMI-for-age in children and adolescents. In the context of Anorexia Nervosa, severe underweight status is an important prognostic factor that is associated with high risk of physical complications and substantially increased mortality. |
MONDO:0005351 |
| MONDO:0974869 |
adult sandhoff disease |
icd11.foundation:647665394 |
MONDO:equivalentTo |
Adult Sandhoff disease |
|
MONDO:0010006 |
| MONDO:0974870 |
ocular rosacea |
icd11.foundation:647749158 |
MONDO:equivalentTo |
Ocular rosacea |
Manifestations of ocular rosacea range from minor irritation, foreign body sensation, dryness, and blurry vision to severe ocular surface disruption and inflammatory keratitis. Patients frequently describe a gritty feeling, and they commonly experience blepharitis and conjunctivitis. Other ocular findings include lid margin and conjunctival telangiectases, eyelid thickening, eyelid crusts and scales, chalazia and hordeola, punctate epithelial erosions, corneal infiltrates, corneal ulcers, corneal scars, and vascularization. Sight-threatening disease is rare with rosacea; however, keratitis can result in sterile corneal ulceration and eventual perforation if not treated aggressively. |
MONDO:0006604 |
| MONDO:0974871 |
spondylolisthesis, occipito-atlanto-axial region |
icd11.foundation:648945913 |
MONDO:equivalentTo |
Spondylolisthesis, occipito-atlanto-axial region |
|
MONDO:0008475 |
| MONDO:0974872 |
autosomal recessive proximal spinal muscular atrophy |
icd11.foundation:648986756 |
MONDO:equivalentTo |
Autosomal recessive proximal spinal muscular atrophy |
|
MONDO:0001516 |
| MONDO:0974873 |
pyorrhoea alveolaris |
icd11.foundation:649301542 |
MONDO:equivalentTo |
Pyorrhoea alveolaris |
|
MONDO:0005593 |
| MONDO:0974874 |
other iatrogenic-acquired creutzfeldt-jakob disease |
icd11.foundation:649320406 |
MONDO:equivalentTo |
Other iatrogenic-acquired Creutzfeldt-Jakob Disease |
|
MONDO:0034976 |
| MONDO:0974875 |
transient hepatargy syndrome |
icd11.foundation:649553430 |
MONDO:equivalentTo |
Transient hepatargy syndrome |
|
MONDO:0001711 |
| MONDO:0974876 |
hexosaminidase activator deficiency |
icd11.foundation:649693659 |
MONDO:equivalentTo |
Hexosaminidase activator deficiency |
|
MONDO:0010100 |
| MONDO:0974877 |
n-acetylglucosaminyltransferase deficiency |
icd11.foundation:650208613 |
MONDO:equivalentTo |
N-acetylglucosaminyltransferase deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIa is characterised by severe psychomotor delay, postnatal growth retardation, facial dysmorphology and bleeding tendency. It has been described in four children. The syndrome is associated with mutations in the MGAT2 gene (localised to the q21 region of chromosome 14) leading to a deficiency in the Golgi apparatus enzyme, N-acetylglucosaminyl transferase (GlcNAc-T II). |
MONDO:0017740 |
| MONDO:0974878 |
indian childhood cirrhosis |
icd11.foundation:650370001 |
MONDO:equivalentTo |
Indian childhood cirrhosis |
|
MONDO:0016204 |
| MONDO:0974879 |
benign neoplasm of border of tongue |
icd11.foundation:650375709 |
MONDO:equivalentTo |
Benign neoplasm of border of tongue |
|
MONDO:0021476 |
| MONDO:0974880 |
partial transverse myelitis |
icd11.foundation:650381497 |
MONDO:equivalentTo |
Partial transverse myelitis |
Focal inflammation and demyelination on one side of the spinal cord which tends to show asymmetric neurological signs below the level of the demyelinating area. |
MONDO:0021553 |
| MONDO:0974881 |
central retinal vein occlusion with macular ischemia |
icd11.foundation:650538731 |
MONDO:equivalentTo |
Central retinal vein occlusion with macular ischemia |
The central retinal vein is the venous equivalent of the central retinal artery and, like that blood vessel, it can suffer from occlusion, similar to that seen in ocular ischemic syndrome. This diagnosis is with a restriction in blood supply to tissues, causing a shortage of oxygen and glucose needed for cellular metabolism (to keep tissue alive). |
MONDO:0002303 |
| MONDO:0974882 |
cerebroretinal lipidosis |
icd11.foundation:650925455 |
MONDO:equivalentTo |
Cerebroretinal lipidosis |
|
MONDO:0016295 |
| MONDO:0974883 |
squamous cell carcinomas of postcricoid region |
icd11.foundation:651060271 |
MONDO:equivalentTo |
Squamous cell carcinomas of postcricoid region |
|
MONDO:0044638 |
| MONDO:0974884 |
primary ciliary dyskinesia, kartagener type |
icd11.foundation:651295257 |
MONDO:equivalentTo |
Primary ciliary dyskinesia, Kartagener type |
Primary ciliary dyskinesia, Kartagener type is an autosomal recessive variant of primary cilia dyskinesia which associates respiratory disorders (chronic bronchorrhoea with bronchiectasis and chronic sinusitis) with situs inversus. Men may present with infertility because of immotile sperm. |
MONDO:0016575 |
| MONDO:0974885 |
choroideremia - hypopituitarism |
icd11.foundation:651979430 |
MONDO:equivalentTo |
Choroideremia - hypopituitarism |
This is an X-linked recessive retinal degenerative disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. |
MONDO:0010557 |
| MONDO:0974886 |
hodgkin disease, nodular sclerosis, lymphocytic depletion |
icd11.foundation:652760343 |
MONDO:equivalentTo |
Hodgkin disease, nodular sclerosis, lymphocytic depletion |
|
MONDO:0004665 |
| MONDO:0974887 |
patella aplasia or hypoplasia, bilateral |
icd11.foundation:653833546 |
MONDO:equivalentTo |
Patella aplasia or hypoplasia, bilateral |
|
MONDO:0008205 |
| MONDO:0974888 |
classical progressive supranuclear palsy |
icd11.foundation:654320551 |
MONDO:equivalentTo |
Classical progressive supranuclear palsy |
Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterised by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia. |
MONDO:0019037 |
| MONDO:0974889 |
secondary cardiomyopathy |
icd11.foundation:654852377 |
MONDO:equivalentTo |
Secondary cardiomyopathy |
|
MONDO:0004994 |
| MONDO:0974890 |
mucocutaneous erythema multiforme |
icd11.foundation:654966035 |
MONDO:equivalentTo |
Mucocutaneous erythema multiforme |
Erythema multiforme with mucosal involvement, usually of oral and/or genital mucous membranes. It causes significantly more morbidity than erythema multiforme confined to the skin. |
MONDO:0006545 |
| MONDO:0974891 |
hallucinogen dependence, sustained full remission |
icd11.foundation:655301620 |
MONDO:equivalentTo |
Hallucinogen dependence, sustained full remission |
After a diagnosis of Hallucinogen dependence, and often following a treatment episode or other intervention (including self-intervention), the person has been abstinent from hallucinogens for 12 months or longer. |
MONDO:0004939 |
| MONDO:0974892 |
acute haemorrhagic cholecystitis |
icd11.foundation:655937024 |
MONDO:equivalentTo |
Acute haemorrhagic cholecystitis |
|
MONDO:0043994 |
| MONDO:0974893 |
congenital atresia of posterior nares |
icd11.foundation:656187419 |
MONDO:equivalentTo |
Congenital atresia of posterior nares |
|
MONDO:0012155 |
| MONDO:0974894 |
frontofacionasal dysostosis |
icd11.foundation:656215307 |
MONDO:equivalentTo |
Frontofacionasal dysostosis |
Fronto-facio-nasal dysostosis is a inherited skeletal disorder characterised by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes). |
MONDO:0800085 |
| MONDO:0974895 |
duplication of trachea |
icd11.foundation:656444317 |
MONDO:equivalentTo |
Duplication of trachea |
|
MONDO:0015505 |
| MONDO:0974896 |
ichthyosis curth-macklin |
icd11.foundation:656571170 |
MONDO:equivalentTo |
Ichthyosis Curth-Macklin |
Ichthyosis hystrix of Curth-Macklin is a rare type of keratinopathic ichthyosis that is characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. |
MONDO:0017266 |
| MONDO:0974897 |
bamforth-lazarus syndrome due to forkhead box protein e1 [foxe1] mutations |
icd11.foundation:657642152 |
MONDO:equivalentTo |
Bamforth-Lazarus syndrome due to Forkhead box protein E1 [FOXE1] mutations |
|
MONDO:0009437 |
| MONDO:0974898 |
trabecular muscular ventricular septal defect |
icd11.foundation:658059528 |
MONDO:equivalentTo |
Trabecular muscular ventricular septal defect |
A congenital cardiac malformation in which there is a ventricular septal defect within the trabeculated component of the ventricular septum. |
MONDO:0002070 |
|
|
|
|
|
|
|
|
|
|
|
|
Additional information: the codes specifying defects within the trabecular part of the ventricular septum should not be used to code inlet or outlet muscular defects, as there are specific codes for these entities. |
|
| MONDO:0974899 |
intermittent hydrarthrosis, neck |
icd11.foundation:658079317 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, neck |
|
MONDO:0018015 |
| MONDO:0974900 |
benign neoplasm of the pharyngeal tonsil |
icd11.foundation:658845994 |
MONDO:equivalentTo |
Benign neoplasm of the pharyngeal tonsil |
|
MONDO:0021478 |
| MONDO:0974901 |
melanodontoclasia |
icd11.foundation:659458595 |
MONDO:equivalentTo |
Melanodontoclasia |
|
MONDO:0001349 |
| MONDO:0974902 |
congenital mitral subvalvar stenosis |
icd11.foundation:659651858 |
MONDO:equivalentTo |
Congenital mitral subvalvar stenosis |
A congenital cardiac malformation in which there is stenosis (narrowing or stricture of a duct or a canal) of the subvalvar components (chordae tendineae and/or papillary muscles) of the mitral valve. |
MONDO:0015109 |
|
|
|
|
|
|
|
|
|
|
|
|
Additional information: this diagnosis includes mitral stenosis associated with parachute mitral valve, mitral arcade, and hammock mitral valve. |
|
| MONDO:0974903 |
common arterial trunk with pulmonary dominance and aortic arch obstruction |
icd11.foundation:659759166 |
MONDO:equivalentTo |
Common arterial trunk with pulmonary dominance and aortic arch obstruction |
A congenital cardiovascular malformation in which a common arterial trunk is associated with aortic arch obstruction or interruption. |
MONDO:0018072 |
| MONDO:0974904 |
acute radiation pneumonitis |
icd11.foundation:659853832 |
MONDO:equivalentTo |
Acute radiation pneumonitis |
|
MONDO:0043919 |
| MONDO:0974905 |
paternal uniparental disomy of chromosome 4 |
icd11.foundation:660032404 |
MONDO:equivalentTo |
Paternal uniparental disomy of chromosome 4 |
|
MONDO:0020057 |
| MONDO:0974906 |
retroperitoneal tuberculosis |
icd11.foundation:660758859 |
MONDO:equivalentTo |
Retroperitoneal tuberculosis |
|
MONDO:0957466 |
| MONDO:0974907 |
papillary pseudomucinous adenocarcinoma of ovary |
icd11.foundation:66079291 |
MONDO:equivalentTo |
Papillary pseudomucinous adenocarcinoma of ovary |
|
MONDO:0008170 |
| MONDO:0974908 |
ovarian hyperthecosis |
icd11.foundation:660843919 |
MONDO:equivalentTo |
Ovarian hyperthecosis |
|
MONDO:0001889 |
| MONDO:0974909 |
transmembrane activator and calcium-modulating cyclophilin ligand interactor deficiency |
icd11.foundation:66099243 |
MONDO:equivalentTo |
Transmembrane activator and calcium-modulating cyclophilin ligand interactor deficiency |
|
MONDO:0015517 |
| MONDO:0974910 |
transient vision loss, spontaneous, complete resolution within less than 1 hour |
icd11.foundation:661197568 |
MONDO:equivalentTo |
Transient vision loss, spontaneous, complete resolution within less than 1 hour |
|
MONDO:0043310 |
| MONDO:0974911 |
osteonecrosis due to trauma, multiple sites |
icd11.foundation:661331705 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, multiple sites |
|
MONDO:0018375 |
| MONDO:0974912 |
adenoma of ciliary neuroepithelium |
icd11.foundation:662158691 |
MONDO:equivalentTo |
Adenoma of ciliary neuroepithelium |
|
MONDO:0021486 |
| MONDO:0974913 |
hypospadias, balanic |
icd11.foundation:662799463 |
MONDO:equivalentTo |
Hypospadias, balanic |
A condition of the urethra affecting males, caused by determinants arising during the antenatal period. This condition is characterised by a malformation of the urethra and an abnormally placed urinary meatus that opens at the site of the frenulum. This condition may also present with an incomplete foreskin that forms a hood. |
MONDO:0005345 |
| MONDO:0974914 |
partial vaginal agenesis |
icd11.foundation:663712792 |
MONDO:equivalentTo |
Partial vaginal agenesis |
|
MONDO:0019932 |
| MONDO:0974915 |
partial nodular transformation of liver |
icd11.foundation:664182661 |
MONDO:equivalentTo |
Partial nodular transformation of liver |
|
MONDO:0005080 |
| MONDO:0974916 |
localised chronic periodontitis |
icd11.foundation:664215033 |
MONDO:equivalentTo |
Localised chronic periodontitis |
Chronic periodontitis can be further characterised by extent and severity. Extent is the number of sites involved and can be described as localised or generalised. As a general guide, extent can be characterised as localised if ?30% of the sites are affected |
MONDO:0005593 |
| MONDO:0974917 |
alpers-huttenlocher syndrome |
icd11.foundation:664465901 |
MONDO:equivalentTo |
Alpers-Huttenlocher syndrome |
Alpers syndrome is a cerebrohepatopathy and developmental, mitochondrial DNA depletion syndrome characterised by the clinical triad of psychomotor regression, seizures, and liver disease. |
MONDO:0100512 |
| MONDO:0974918 |
nasopharyngeal leishmaniasis |
icd11.foundation:665457616 |
MONDO:equivalentTo |
Nasopharyngeal leishmaniasis |
|
MONDO:0005859 |
| MONDO:0974919 |
congenital ruptured arteriovenous cavernous sinus aneurysm |
icd11.foundation:665531929 |
MONDO:equivalentTo |
Congenital ruptured arteriovenous cavernous sinus aneurysm |
|
MONDO:0019543 |
| MONDO:0974920 |
fibrodysplasia ossificans progressiva, ankle or foot |
icd11.foundation:666110673 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, ankle or foot |
|
MONDO:0007606 |
| MONDO:0974921 |
typhoid ulcer |
icd11.foundation:666763630 |
MONDO:equivalentTo |
Typhoid ulcer |
|
MONDO:0005619 |
| MONDO:0974922 |
limb-girdle muscular dystrophy 2f, delta-sarcoglycan deficiency |
icd11.foundation:667751114 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2F, delta-sarcoglycan deficiency |
Autosomal recessive limb-girdle muscular dystrophy type 2F, or delta-sarcoglycanopathy is a limb girdle muscular dystrophy (LGMD), which is a group of disorders characterised by progressive muscle weakness, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved, and is characterised by scapular winging and calf hypertrophy with onset between 2 and 10 years. Cardiac involvement occurs in about 20% of cases. |
MONDO:0015152 |
| MONDO:0974923 |
syncytial meningioma of unspecified site |
icd11.foundation:668499790 |
MONDO:equivalentTo |
Syncytial meningioma of unspecified site |
|
MONDO:0016642 |
| MONDO:0974924 |
aplasia of cervix |
icd11.foundation:669004414 |
MONDO:equivalentTo |
Aplasia of cervix |
|
MONDO:0015845 |
| MONDO:0974925 |
infantile bartter syndrome with deafness |
icd11.foundation:669552928 |
MONDO:equivalentTo |
Infantile Bartter syndrome with deafness |
|
MONDO:0015231 |
| MONDO:0974926 |
abscess of tonsil |
icd11.foundation:669740758 |
MONDO:equivalentTo |
Abscess of tonsil |
|
MONDO:0005906 |
| MONDO:0974927 |
mitochondrial oxidative phosphorylation disorders with no known genetic basis |
icd11.foundation:670455494 |
MONDO:equivalentTo |
Mitochondrial oxidative phosphorylation disorders with no known genetic basis |
This refers to disorders of the metabolic pathway in which the mitochondria in cells use their structure, enzymes, and energy released by the oxidation of nutrients to reform ATP. This diagnosis is with no known genetic basis. |
MONDO:0016387 |
| MONDO:0974928 |
anterior corneal staphyloma |
icd11.foundation:6706747 |
MONDO:equivalentTo |
Anterior corneal staphyloma |
|
MONDO:0001579 |
| MONDO:0974929 |
chronic kidney disease, stage 3b |
icd11.foundation:671059308 |
MONDO:equivalentTo |
Chronic kidney disease, stage 3b |
GFR 30-44 ml/min/1.73m |
MONDO:0005300 |
| MONDO:0974930 |
decreased erythroid precursor production |
icd11.foundation:671689509 |
MONDO:equivalentTo |
Decreased erythroid precursor production |
|
MONDO:0020338 |
| MONDO:0974931 |
phosphoenolpyruvate carboxykinase 1 deficiency |
icd11.foundation:671802176 |
MONDO:equivalentTo |
Phosphoenolpyruvate carboxykinase 1 deficiency |
This refers a deficiency enzyme which in humans is encoded by the PCK1 gene. This is an enzyme in the lyase family used in the metabolic pathway of gluconeogenesis. It converts oxaloacetate into phosphoenolpyruvate and carbon dioxide. |
MONDO:0017320 |
| MONDO:0974932 |
ulcer of cervix with cervicitis |
icd11.foundation:672241274 |
MONDO:equivalentTo |
Ulcer of cervix with cervicitis |
|
MONDO:0002345 |
| MONDO:0974933 |
restrictive cardiomyopathy due to scleroderma |
icd11.foundation:67385469 |
MONDO:equivalentTo |
Restrictive cardiomyopathy due to scleroderma |
|
MONDO:0016345 |
| MONDO:0974934 |
chronic pulmonary histoplasmosis capsulati |
icd11.foundation:674292189 |
MONDO:equivalentTo |
Chronic pulmonary histoplasmosis capsulati |
Chronic pulmonary histoplasmosis is a chronic, progressive lung disease of adults which develops in a small proportion of people following primary infection with Histoplasma capsulatum. Clinically it mimics pulmonary tuberculosis. |
MONDO:0018312 |
| MONDO:0974935 |
thoracic outlet syndrome due to cervical rib |
icd11.foundation:674530731 |
MONDO:equivalentTo |
Thoracic outlet syndrome due to cervical rib |
|
MONDO:0005979 |
| MONDO:0974936 |
medial deletions of the long arm of chromosome 9 |
icd11.foundation:674873538 |
MONDO:equivalentTo |
Medial deletions of the long arm of chromosome 9 |
|
MONDO:0016908 |
| MONDO:0974937 |
congenital corneal opacity |
icd11.foundation:675096862 |
MONDO:equivalentTo |
Congenital corneal opacity |
A condition caused by failure of the cornea to correctly develop during the antenatal period. This condition is characterised by opacity of the cornea. |
MONDO:0019503 |
| MONDO:0974938 |
medial duplications of the long arm of chromosome 4 |
icd11.foundation:675184329 |
MONDO:equivalentTo |
Medial duplications of the long arm of chromosome 4 |
|
MONDO:0016955 |
| MONDO:0974939 |
acquired renal tubular acidosis |
icd11.foundation:675730044 |
MONDO:equivalentTo |
Acquired renal tubular acidosis |
|
MONDO:0001909 |
| MONDO:0974940 |
myeloproliferative and myelodysplastic disease, unclassifiable in complete remission |
icd11.foundation:676597114 |
MONDO:equivalentTo |
Myeloproliferative and myelodysplastic disease, unclassifiable in complete remission |
|
MONDO:0020313 |
| MONDO:0974941 |
ctla4-mutation |
icd11.foundation:676676059 |
MONDO:equivalentTo |
CTLA4-Mutation |
|
MONDO:0015709 |
| MONDO:0974942 |
congenital bowing of radius |
icd11.foundation:676833987 |
MONDO:equivalentTo |
Congenital bowing of radius |
|
MONDO:0008882 |
| MONDO:0974943 |
complete trisomy 13, translocation |
icd11.foundation:677685548 |
MONDO:equivalentTo |
Complete trisomy 13, translocation |
|
MONDO:0018068 |
| MONDO:0974944 |
duodenal erosion |
icd11.foundation:677808164 |
MONDO:equivalentTo |
Duodenal erosion |
Duodenal erosion represents a mucosal breach extending up to, but not through, the muscularis mucosa. Duodenal erosion may constitute a phase of ulcer development or accompany some forms of duodenal ulcer. |
MONDO:0005412 |
| MONDO:0974945 |
endothelial corneal dystrophy |
icd11.foundation:677984188 |
MONDO:equivalentTo |
Endothelial corneal dystrophy |
|
MONDO:0018102 |
| MONDO:0974946 |
proliferative diabetic retinopathy with tractional retinal detachment, macula involved |
icd11.foundation:677998944 |
MONDO:equivalentTo |
Proliferative diabetic retinopathy with tractional retinal detachment, macula involved |
|
MONDO:0001660 |
| MONDO:0974947 |
recurrent optic neuritis aquaporin-4 antibody positive |
icd11.foundation:678566494 |
MONDO:equivalentTo |
Recurrent optic neuritis aquaporin-4 antibody positive |
Two or more episodes of optic neuritis associated with seropositivity for aquaporin-4 antibodies but without sufficient features to fulfill the 2006 NMO diagnostic criteria. |
MONDO:0019100 |
| MONDO:0974948 |
benign neoplasm of visceral pleura |
icd11.foundation:678673203 |
MONDO:equivalentTo |
Benign neoplasm of visceral pleura |
|
MONDO:0021457 |
| MONDO:0974949 |
electron transfer flavoprotein deficiency, alpha chain |
icd11.foundation:678798827 |
MONDO:equivalentTo |
Electron transfer flavoprotein deficiency, alpha chain |
This refers to deficiency in a flavoprotein and functions as a specific electron acceptor for primary dehydrogenases, transferring the electrons to terminal respiratory systems such as electron-transferring-flavoprotein dehydrogenase, alpha chain. |
MONDO:0009282 |
| MONDO:0974950 |
posterior polar cataract |
icd11.foundation:679652376 |
MONDO:equivalentTo |
Posterior polar cataract |
|
MONDO:0011060 |
| MONDO:0974951 |
hydronephrosis and ureteral stricture with infection |
icd11.foundation:679697808 |
MONDO:equivalentTo |
Hydronephrosis and ureteral stricture with infection |
|
MONDO:0021750 |
| MONDO:0974952 |
adenoma of iris neuroepithelium |
icd11.foundation:680069214 |
MONDO:equivalentTo |
Adenoma of iris neuroepithelium |
|
MONDO:0021485 |
| MONDO:0974953 |
acute non-st elevation myocardial infarction |
icd11.foundation:680129526 |
MONDO:equivalentTo |
Acute non-ST elevation myocardial infarction |
|
MONDO:0004781 |
| MONDO:0974954 |
postinfectious encephalomyelitis |
icd11.foundation:680294872 |
MONDO:equivalentTo |
Postinfectious encephalomyelitis |
Postinfectious encephalitis is an inflammation of the brain parenchyma that presents with fever, alterations in consciousness, seizure, and focal neurologic signs caused by infection, most frequently by viruses. |
MONDO:0019383 |
| MONDO:0974955 |
complement component c5 deficiency |
icd11.foundation:680549930 |
MONDO:equivalentTo |
Complement component C5 deficiency |
|
MONDO:0015700 |
| MONDO:0974956 |
secondary gout |
icd11.foundation:680965837 |
MONDO:equivalentTo |
Secondary gout |
Secondary gout refers to those cases that develop during the course of another disease, or as a consequence of treatment with drugs. Secondary gout is associated with increased purine biosynthesis de novo, increased nucleic acid turnover, or decreased renal clearance of uric acid. |
MONDO:0005393 |
| MONDO:0974957 |
renal tubular dysgenesis, drug-related |
icd11.foundation:681148572 |
MONDO:equivalentTo |
Renal tubular dysgenesis, drug-related |
|
MONDO:0017609 |
| MONDO:0974958 |
vitamin a deficiency with corneal ulceration or keratomalacia |
icd11.foundation:681973206 |
MONDO:equivalentTo |
Vitamin A deficiency with corneal ulceration or keratomalacia |
Ulceration/keratomalacia indicates permanent destruction of part or all of the corneal stroma, resulting in permanent structural alteration. Ulcers are classically round to oval "punched-out" defects, as if a trephine or cork-borer had been applied to the eye. The surrounding cornea is generally xerotic but otherwise clear, and typically lacks the grey, infiltrated appearance of ulcers of bacterial origin. There may be more than one ulcer. Small ulcers are almost invariably confined to the periphery of the cornea, especially its inferior and nasal aspects. The ulceration may be shallow, but is commonly deep. Perforations become plugged with iris, thereby preserving the anterior chamber. In more advanced disease the necrotic stroma sloughs, leaving a large ulcer or descemetocele. As with smaller ulcers, this is usually peripheral and heals as a dense, white, adherent leukoma. With therapy, superficial ulcers often heal with surprisingly little scarring; deeper ulcers, especially perforations, form dense peripheral adherent leukomas. |
MONDO:0001250 |
| MONDO:0974959 |
proximal deletions of the long arm of chromosome 4 |
icd11.foundation:681979856 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 4 |
|
MONDO:0016903 |
| MONDO:0974960 |
haemangiolipoma of unspecified site |
icd11.foundation:682030763 |
MONDO:equivalentTo |
Haemangiolipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0974961 |
other autosomal ichthyosis syndromes |
icd11.foundation:682520860 |
MONDO:equivalentTo |
Other autosomal ichthyosis syndromes |
|
MONDO:0017263 |
| MONDO:0974962 |
central retinal vein occlusion with macular oedema |
icd11.foundation:682607792 |
MONDO:equivalentTo |
Central retinal vein occlusion with macular oedema |
The central retinal vein is the venous equivalent of the central retinal artery and, like that blood vessel, it can suffer from occlusion, similar to that seen in ocular ischemic syndrome. This diagnosis is with fluid and protein deposits collect on or under the macula of the eye (a yellow central area of the retina) and causes it to thicken and swell (oedema). The swelling may distort a person's central vision, as the macula is near the centre of the retina at the back of the eyeball. |
MONDO:0002303 |
| MONDO:0974963 |
sex-linked optic atrophy |
icd11.foundation:683162137 |
MONDO:equivalentTo |
Sex-linked optic atrophy |
|
MONDO:0020249 |
| MONDO:0974964 |
distal deletions of the short arm of chromosome 9 |
icd11.foundation:68488494 |
MONDO:equivalentTo |
Distal deletions of the short arm of chromosome 9 |
|
MONDO:0016891 |
| MONDO:0974965 |
deficiency of vitamin d2 |
icd11.foundation:684949211 |
MONDO:equivalentTo |
Deficiency of vitamin D2 |
|
MONDO:0100471 |
| MONDO:0974966 |
congenital myasthenia with postsynaptic defect |
icd11.foundation:686257112 |
MONDO:equivalentTo |
Congenital myasthenia with postsynaptic defect |
Congenital myasthenia with postsynaptic defect account for 60% of cases and include: Acetylcholine receptor (AChR) kinetic anomalies (slow channel, fast channel), AChR deficiency, Escobar syndrome, Rapsyn deficiency, Sodium channel myasthenia, anomalies of Muscle-specific kinase (MuSK), DOK-7 related limbgirdle myasthenia, Low density lipoprotein receptor-related protein 4 (LRP4)-related CMS, centronuclear myopathy and impaired neuromuscular transmission, and plectin deficiency. |
MONDO:0018940 |
| MONDO:0974967 |
acute haemorrhagic pancreatitis |
icd11.foundation:686460192 |
MONDO:equivalentTo |
Acute haemorrhagic pancreatitis |
|
MONDO:0006515 |
| MONDO:0974968 |
polymyositis with overlap to nonorgan specific systemic autoimmune disorders |
icd11.foundation:686599520 |
MONDO:equivalentTo |
Polymyositis with overlap to nonorgan specific systemic autoimmune disorders |
Polymyositis with overlap to non-organ specific systemic autoimmune disorders is an idiopathic inflammatory myopathy associated with other autoimmune or connective tissue disorders, such as systemic sclerosis and mixed connective tissue disease. |
MONDO:0019127 |
| MONDO:0974969 |
female pattern hair loss |
icd11.foundation:687011469 |
MONDO:equivalentTo |
Female pattern hair loss |
Female pattern hair loss differs from male pattern hair loss not only in being generally less pronounced than in men but also by the fact that the normal frontal hair line is usually preserved. A quarter of women will develop clinically detectable pattern hair loss by the age of 70. In the majority of cases it can be attributed to the effects of androgens. |
MONDO:0004907 |
| MONDO:0974970 |
spondylometaphyseal dysplasia with combined immunodeficiency |
icd11.foundation:687261501 |
MONDO:equivalentTo |
Spondylometaphyseal dysplasia with combined immunodeficiency |
Spondylometaphyseal dysplasia with combined immunodeficiency is characterised by combined immunodeficiency, autoimmunity (that manifests as vitiligo, Crohn's disease, arthritis, thyroiditis, and thrombocytopenia), and spondylometaphyseal dysplasia. |
MONDO:0015709 |
| MONDO:0974971 |
congenital ruptured arteriovenous brain aneurysm |
icd11.foundation:687293979 |
MONDO:equivalentTo |
Congenital ruptured arteriovenous brain aneurysm |
|
MONDO:0019543 |
| MONDO:0974972 |
combined immunodeficiency due to cd3 gamma deficiency |
icd11.foundation:68748907 |
MONDO:equivalentTo |
Combined immunodeficiency due to CD3 gamma deficiency |
These are immunodeficiency disorders that involve multiple components of the immune system, including both humoral immunity and cell-mediated immunity. This diagnosis is due to CD3 gamma deficiency. |
MONDO:0015131 |
| MONDO:0974973 |
periosteitis fibrosa |
icd11.foundation:687608148 |
MONDO:equivalentTo |
Periosteitis fibrosa |
|
MONDO:0004934 |
| MONDO:0974974 |
abscess of gallbladder without calculus |
icd11.foundation:687979966 |
MONDO:equivalentTo |
Abscess of gallbladder without calculus |
|
MONDO:0043994 |
| MONDO:0974975 |
discoid lupus erythematosus of lower eyelid |
icd11.foundation:690407886 |
MONDO:equivalentTo |
Discoid lupus erythematosus of lower eyelid |
|
MONDO:0004706 |
| MONDO:0974976 |
acute paralytic poliomyelitis, wild virus, indigenous |
icd11.foundation:690556140 |
MONDO:equivalentTo |
Acute paralytic poliomyelitis, wild virus, indigenous |
This is an acute inflammation of the spinal cords grey matter, although a severe infection can extend into the brainstem and even higher structures, resulting in polioencephalitis, producing apnoea that requires mechanical assistance such as an iron lung. This diagnosis is caused by wild virus, indigenous. |
MONDO:0017373 |
| MONDO:0974977 |
ectodermal dysplasia, pure hair-nail type |
icd11.foundation:691002661 |
MONDO:equivalentTo |
Ectodermal dysplasia, pure hair-nail type |
Pure hair and nail ectodermal dysplasia refers to the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. |
MONDO:0019287 |
| MONDO:0974978 |
anxious personality disorder |
icd11.foundation:691088106 |
MONDO:equivalentTo |
Anxious personality disorder |
Personality disorder characterised by feelings of tension and apprehension, insecurity and inferiority. There is a continuous yearning to be liked and accepted, a hypersensitivity to rejection and criticism with restricted personal attachments, and a tendency to avoid certain activities by habitual exaggeration of the potential dangers or risks in everyday situations. |
MONDO:0002028 |
| MONDO:0974979 |
thymidine kinase 2 deficiency |
icd11.foundation:691441896 |
MONDO:equivalentTo |
Thymidine kinase 2 deficiency |
This refers to deficiency in an enzyme, a phosphotransferase (a kinase): 2'-deoxythymidine kinase, ATP-thymidine 5'-phosphotransferase, EC 2.7.1.21. |
MONDO:0019238 |
| MONDO:0974980 |
chondrocalcinosis, shoulder region |
icd11.foundation:691576168 |
MONDO:equivalentTo |
Chondrocalcinosis, shoulder region |
|
MONDO:0001314 |
| MONDO:0974981 |
neovascular late-stage age-related macular degeneration |
icd11.foundation:692231715 |
MONDO:equivalentTo |
Neovascular late-stage age-related macular degeneration |
|
MONDO:0005150 |
| MONDO:0974982 |
reading epilepsy |
icd11.foundation:692290356 |
MONDO:equivalentTo |
Reading epilepsy |
Epilepsy with seizures triggered exclusively by reading. |
MONDO:0017768 |
| MONDO:0974983 |
cranial arachnoiditis |
icd11.foundation:692856715 |
MONDO:equivalentTo |
Cranial arachnoiditis |
|
MONDO:0015304 |
| MONDO:0974984 |
emery-dreifuss muscular dystrophy, autosomal recessive |
icd11.foundation:693767720 |
MONDO:equivalentTo |
Emery-Dreifuss muscular dystrophy, autosomal recessive |
Autosomal recessive Emery-Dreifuss muscular dystrophy is clinically characterised by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias. It is caused by homozygous mutation in the LMNA gene on chromosome 1q21. |
MONDO:0016830 |
| MONDO:0974985 |
genetic recurrent myoglobinuria |
icd11.foundation:694361225 |
MONDO:equivalentTo |
Genetic recurrent myoglobinuria |
Genetic recurrent myoglobinuria is an inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. |
MONDO:0019052 |
| MONDO:0974986 |
acquired immunodeficiency syndrome cholangiopathy |
icd11.foundation:694560815 |
MONDO:equivalentTo |
Acquired immunodeficiency syndrome cholangiopathy |
Biliary syndrome intercurrent for AIDS mainly the opportunistic infection of bile duct. |
MONDO:0004789 |
| MONDO:0974987 |
tropical pulmonary eosinophilia |
icd11.foundation:694910970 |
MONDO:equivalentTo |
Tropical pulmonary eosinophilia |
Tropical pulmonary eosinophilia(TPE) is a syndrome of wheezing, fever and eosinophilia seen predominantly in the Indian subcontinent and other tropical areas. |
MONDO:0004802 |
|
|
|
|
|
|
|
|
|
|
|
|
The syndrome has been termed tropical eosinophilia, tropical pulmonary eosinophilia (TPE), or tropical filarial pulmonary eosinophilia (TFPE). Tropical filarial pulmonary eosinophilia (TFPE) is a clinical manifestation of lymphatic filariasis, a parasitic infection caused by filarial nematodes ( roundworms) that inhabit the lymphatics and bloodstream. |
|
| MONDO:0974988 |
high anorectal malformation without fistula |
icd11.foundation:694980405 |
MONDO:equivalentTo |
High anorectal malformation without fistula |
This is a type of anorectal atresia. This is a high lesion, in which the colon is higher up in the pelvis and cul-de-sac above the level of the pubococcygeal line, without fistula. |
MONDO:0015731 |
| MONDO:0974989 |
coloboma of iris, unilateral |
icd11.foundation:695124724 |
MONDO:equivalentTo |
Coloboma of iris, unilateral |
|
MONDO:0020356 |
| MONDO:0974990 |
congenital laryngotracheal cleft |
icd11.foundation:695885722 |
MONDO:equivalentTo |
Congenital laryngotracheal cleft |
|
MONDO:0015504 |
| MONDO:0974991 |
male isosexual precocious pseudopuberty |
icd11.foundation:695896438 |
MONDO:equivalentTo |
Male isosexual precocious pseudopuberty |
|
MONDO:0015898 |
| MONDO:0974992 |
bence jones proteinuria |
icd11.foundation:696187905 |
MONDO:equivalentTo |
Bence Jones proteinuria |
A condition characterised by the presence of a monoclonal globulin protein or immunoglobulin light chain (Bence Jones protein) in the urine. Originally detected by precipitating at 56 and dissolving again at 100 degrees centigrade (Henry Bence Jones 1813-1873) they are now detected by urinary electrophoresis or light chain assay. |
MONDO:0003634 |
| MONDO:0974993 |
beriberi with polyneuropathy |
icd11.foundation:696357118 |
MONDO:equivalentTo |
Beriberi with polyneuropathy |
|
MONDO:0006676 |
| MONDO:0974994 |
chronic suppurative pericementitis |
icd11.foundation:696579112 |
MONDO:equivalentTo |
Chronic suppurative pericementitis |
|
MONDO:0005593 |
| MONDO:0974995 |
agenesis of lung, bilateral |
icd11.foundation:697275416 |
MONDO:equivalentTo |
Agenesis of lung, bilateral |
This refers to the failure of the lung to develop during embryonic growth and development due to the absence of primordial tissue, bilateral. |
MONDO:0020110 |
| MONDO:0974996 |
limb-girdle myasthenia, nonfamilial |
icd11.foundation:697826513 |
MONDO:equivalentTo |
Limb-girdle myasthenia, nonfamilial |
Limb-girdle myasthenias are rare conditions in which impaired neuromuscular transmission leads to weakness of proximal limb muscles with little or no involvement of the ocular, bulbar or facial muscles, giving rise to a characteristic waddling gait. In most of these patients the onset of muscle weakness is first noticed in infancy or childhood, but a later onset is described. Nonfamilial limb-girdle myasthenia include autoimmune forms. |
MONDO:0018940 |
| MONDO:0974997 |
small cell carcinoma of thymus |
icd11.foundation:69783507 |
MONDO:equivalentTo |
Small cell carcinoma of thymus |
|
MONDO:0020516 |
| MONDO:0974998 |
acute peritoneal infection |
icd11.foundation:698553167 |
MONDO:equivalentTo |
Acute peritoneal infection |
|
MONDO:0004522 |
| MONDO:0974999 |
chronic pericoronitis |
icd11.foundation:700283900 |
MONDO:equivalentTo |
Chronic pericoronitis |
|
MONDO:0006899 |
| MONDO:0975000 |
tricho-odonto-onychial ectodermal dysplasia |
icd11.foundation:700661574 |
MONDO:equivalentTo |
Tricho-odonto-onychial ectodermal dysplasia |
|
MONDO:0019287 |
| MONDO:0975001 |
brugada syndrome with provoked brugada ecg pattern |
icd11.foundation:701116987 |
MONDO:equivalentTo |
Brugada Syndrome with provoked Brugada ECG pattern |
Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death associated with a pharmacologically provoked Brugada pattern ECG. |
MONDO:0015263 |
| MONDO:0975002 |
deficiency of cysteine desulfhydrase |
icd11.foundation:701738096 |
MONDO:equivalentTo |
Deficiency of cysteine desulfhydrase |
|
MONDO:0019222 |
| MONDO:0975003 |
idiopathic type 1 diabetes mellitus |
icd11.foundation:702044482 |
MONDO:equivalentTo |
Idiopathic Type 1 diabetes mellitus |
Some forms of type 1 diabetes mellitus have no known aetiologies. These patients have permanent insulinopenia and are prone to ketoacidosis, but have no evidence of -cell autoimmunity. Although only a minority of patients with type 1 diabetes mellitus fall into this category, of those who do, most are of African or Asian ancestry. Individuals with this form of diabetes suffer from episodic ketoacidosis and exhibit varying degrees of insulin deficiency between episodes |
MONDO:0005147 |
| MONDO:0975004 |
chronic autoimmune urticaria |
icd11.foundation:702193256 |
MONDO:equivalentTo |
Chronic autoimmune urticaria |
Chronic urticaria due to functional autoantibodies which degranulate basophils and skin mast cells. |
MONDO:0850230 |
| MONDO:0975005 |
syringomyelocele |
icd11.foundation:702536533 |
MONDO:equivalentTo |
Syringomyelocele |
|
MONDO:0008449 |
| MONDO:0975006 |
osteonecrosis due to trauma, head |
icd11.foundation:703371311 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, head |
|
MONDO:0018375 |
| MONDO:0975007 |
retinopathy of prematurity, stage 3 |
icd11.foundation:703394211 |
MONDO:equivalentTo |
Retinopathy of prematurity, Stage 3 |
Stage 3: Extraretinal Fibrovascular Proliferation: Neovascularization extends from the ridge into the vitreous. This extraretinal proliferating tissue is continuous with the posterior aspect of the ridge, causing a ragged appearance as the proliferation becomes more extensive. |
MONDO:0006952 |
| MONDO:0975008 |
glycerol kinase deficiency |
icd11.foundation:703589069 |
MONDO:equivalentTo |
Glycerol kinase deficiency |
This is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. |
MONDO:0019227 |
| MONDO:0975009 |
adult-onset autosomal dominant leukodystrophy |
icd11.foundation:704130 |
MONDO:equivalentTo |
Adult-onset autosomal dominant leukodystrophy |
|
MONDO:0018544 |
| MONDO:0975010 |
thymoma-associated myasthenia gravis |
icd11.foundation:704273188 |
MONDO:equivalentTo |
Thymoma-associated myasthenia gravis |
In about 15% of the Acetylcholine receptor (AChR) positive Myasthenia Gravis patients, most common in 4th to 6th decades, the disease can be classified as paraneoplastic, usually associated with a thymoma. Thymoma with MG is equally or less malignant than that without MG. Anti-striational antibodies including anti-titin, ryanodine receptor (RyR), and Kv1.4 antibodies are more frequently found in thymoma-associated MG. In Muscle-specific kinase (MuSK) MG thymoma is rare, albeit small thymomas have been reported. |
MONDO:0009688 |
| MONDO:0975011 |
allergic rhinitis due to pollen |
icd11.foundation:704335372 |
MONDO:equivalentTo |
Allergic rhinitis due to pollen |
This condition is an allergic inflammation of the nasal airways. It occurs when an allergen, such as pollen, is inhaled by an individual with a sensitized immune system. |
MONDO:0011786 |
| MONDO:0975012 |
suspected rabies |
icd11.foundation:704396991 |
MONDO:equivalentTo |
Suspected rabies |
A condition caused by possible infection with the rabies virus. This is characterised by an acute neurological syndrome dominated by forms of hyperactivity or paralytic syndromes progressing towards coma and death (usually by cardiac or respiratory failure) typically within 7-10 days after the first sign if no intensive care is instituted. |
MONDO:0019173 |
| MONDO:0975013 |
childhood asthma |
icd11.foundation:704667586 |
MONDO:equivalentTo |
Childhood asthma |
|
MONDO:0004784 |
| MONDO:0975014 |
benign arrhenoblastoma, unspecified site, male |
icd11.foundation:704800677 |
MONDO:equivalentTo |
Benign arrhenoblastoma, unspecified site, male |
|
MONDO:0021447 |
| MONDO:0975015 |
saldino-mainzer syndrome |
icd11.foundation:704951474 |
MONDO:equivalentTo |
Saldino-Mainzer syndrome |
Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia (shortened phalanges with cone-shaped epiphyses). |
MONDO:0019695 |
| MONDO:0975016 |
46,xx androgen-induced disorders of sex development of iatrogenic maternal origin |
icd11.foundation:706074605 |
MONDO:equivalentTo |
46,XX androgen-induced disorders of sex development of iatrogenic maternal origin |
This refers to 46,XX disorders of sex development induced by any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of male characteristics in vertebrates by binding to androgen receptors, of iatrogenic maternal origin. |
MONDO:0019608 |
| MONDO:0975017 |
unspecified frostbite of neck |
icd11.foundation:706236365 |
MONDO:equivalentTo |
Unspecified frostbite of neck |
|
MONDO:0800177 |
| MONDO:0975018 |
complement component c3 deficiency |
icd11.foundation:706642911 |
MONDO:equivalentTo |
Complement component C3 deficiency |
|
MONDO:0015136 |
| MONDO:0975019 |
eclampsia in labour |
icd11.foundation:7072356 |
MONDO:equivalentTo |
Eclampsia in labour |
This condition is characterised by seizure or convulsions newly arising in pregnancy. The condition is often associated with pregnancy-induced hypertension, convulsions, seizure, anxiety, epigastric pain, severe headache, blurred vision, proteinuria, and oedema that occurs during labour. |
MONDO:0001754 |
| MONDO:0975020 |
brachyolmia type 2 |
icd11.foundation:707242905 |
MONDO:equivalentTo |
Brachyolmia type 2 |
Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short trunk/short stature, generalised platyspondyly and rounding vertebral bodies. |
MONDO:0015262 |
| MONDO:0975021 |
launois-cleret syndrome |
icd11.foundation:707381663 |
MONDO:equivalentTo |
Launois-Cleret syndrome |
|
MONDO:0015127 |
| MONDO:0975022 |
unspecified frostbite of pelvis |
icd11.foundation:707857699 |
MONDO:equivalentTo |
Unspecified frostbite of pelvis |
|
MONDO:0800177 |
| MONDO:0975023 |
distal duplications of the long arm of chromosome 1 |
icd11.foundation:707918367 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 1 |
|
MONDO:0016952 |
| MONDO:0975024 |
middle cerebral artery aneurysm |
icd11.foundation:708359529 |
MONDO:equivalentTo |
Middle cerebral artery aneurysm |
|
MONDO:0019543 |
| MONDO:0975025 |
spasm of fixation |
icd11.foundation:708621397 |
MONDO:equivalentTo |
Spasm of fixation |
Inability to generate a voluntary eye movement to shift gaze when a fixation target is continuously present; only when the fixation target is removed can a gaze shift be made |
MONDO:0018211 |
| MONDO:0975026 |
ectodermal dysplasia - blindness |
icd11.foundation:708794156 |
MONDO:equivalentTo |
Ectodermal dysplasia - blindness |
Ectodermal dysplasia - blindness syndrome is characterised by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. |
MONDO:0019287 |
| MONDO:0975027 |
necrotizing cystitis |
icd11.foundation:709047082 |
MONDO:equivalentTo |
Necrotizing cystitis |
|
MONDO:0006032 |
| MONDO:0975028 |
immunodeficiency with cd59 deficiency |
icd11.foundation:709829617 |
MONDO:equivalentTo |
Immunodeficiency with CD59 deficiency |
This is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with CD59 deficiency. |
MONDO:0015136 |
| MONDO:0975029 |
thinking epilepsy |
icd11.foundation:709920743 |
MONDO:equivalentTo |
Thinking epilepsy |
|
MONDO:0017768 |
| MONDO:0975030 |
pick tubular adenoma, unspecified site, male |
icd11.foundation:709943929 |
MONDO:equivalentTo |
Pick tubular adenoma, unspecified site, male |
|
MONDO:0021447 |
| MONDO:0975031 |
intestinal myiasis |
icd11.foundation:710669091 |
MONDO:equivalentTo |
Intestinal myiasis |
|
MONDO:0019147 |
| MONDO:0975032 |
extrathoracic coccidioidomycosis |
icd11.foundation:71079562 |
MONDO:equivalentTo |
Extrathoracic coccidioidomycosis |
Coccidioidomycosis involving sites other than the lungs and thoracic cavity. Recognised sites include lymph nodes, bones, joints, central nervous system and skin. Transmission is through haematogenous spread to other body sites after inhalation of fungal spores or by direct inoculation. |
MONDO:0005706 |
| MONDO:0975033 |
sequelae of unspecified frostbite of thorax, abdomen, lower back and pelvis |
icd11.foundation:711476903 |
MONDO:equivalentTo |
Sequelae of unspecified frostbite of thorax, abdomen, lower back and pelvis |
|
MONDO:0800177 |
| MONDO:0975034 |
giant cell arteritis with polymyalgia rheumatica |
icd11.foundation:711560287 |
MONDO:equivalentTo |
Giant cell arteritis with polymyalgia rheumatica |
|
MONDO:0008538 |
| MONDO:0975035 |
squamous cell carcinoma of vulva, hpv independent |
icd11.foundation:711564968 |
MONDO:equivalentTo |
Squamous cell carcinoma of vulva, HPV independent |
|
MONDO:0024609 |
| MONDO:0975036 |
grass allergy with asthma |
icd11.foundation:711677390 |
MONDO:equivalentTo |
Grass allergy with asthma |
|
MONDO:0004784 |
| MONDO:0975037 |
late-infantile or juvenile krabbe disease |
icd11.foundation:711683611 |
MONDO:equivalentTo |
Late-infantile or juvenile Krabbe disease |
|
MONDO:0009499 |
| MONDO:0975038 |
scoliosis with no determinant |
icd11.foundation:712180005 |
MONDO:equivalentTo |
Scoliosis with no determinant |
This is a general term comprising a heterogeneous group of conditions consisting in changes in the shape |
MONDO:0005392 |
|
|
|
|
|
and position of the spine, thorax and trunk which does not have a clearly identifiable pathology or determinant. |
|
| MONDO:0975039 |
familial digital arthropathy - brachydactyly |
icd11.foundation:712379319 |
MONDO:equivalentTo |
Familial digital arthropathy - brachydactyly |
Familial digital arthropathy-brachydactyly syndrome is an autosomal dominant syndrome characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. |
MONDO:0019695 |
| MONDO:0975040 |
neuroendocrine tumours of pancreas |
icd11.foundation:713018243 |
MONDO:equivalentTo |
Neuroendocrine tumours of pancreas |
A low or intermediate grade well differentiated tumour with neuroendocrine differentiation that arises from the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumours are classified either as functional or nonfunctional. |
MONDO:0005815 |
| MONDO:0975041 |
thyrotoxicosis with diffuse goitre |
icd11.foundation:713028385 |
MONDO:equivalentTo |
Thyrotoxicosis with diffuse goitre |
Thyrotoxicosis occurs by the ingestion of excessive amounts of exogenous thyroid hormone in the form of thyroid hormone supplements such as the most widely used supplement levothyroxine. |
MONDO:0010138 |
| MONDO:0975042 |
urinary incontinence associated with pelvic organ prolapse |
icd11.foundation:71334904 |
MONDO:equivalentTo |
Urinary incontinence associated with pelvic organ prolapse |
A condition of the urinary system, caused by the abnormal displacement of one or more pelvic organs. This condition is characterised by the involuntary loss of urine. Confirmation is by urinalysis. |
MONDO:0000082 |
| MONDO:0975043 |
congenital central hypothyroidism due to resistance to thyrotropin-releasing hormone syndrome |
icd11.foundation:713422049 |
MONDO:equivalentTo |
Congenital central hypothyroidism due to resistance to thyrotropin-releasing hormone syndrome |
This refers to a congenital central state in which the thyroid gland does not make enough thyroid hormone. This diagnosis is due to resistance to thyrotropin-releasing hormone syndrome. |
MONDO:0016410 |
| MONDO:0975044 |
internuclear ophthalmoplegia, bilateral |
icd11.foundation:713741391 |
MONDO:equivalentTo |
Internuclear ophthalmoplegia, bilateral |
|
MONDO:0003417 |
| MONDO:0975045 |
squamous cell carcinomas of upper third of oesophagus |
icd11.foundation:71381471 |
MONDO:equivalentTo |
Squamous cell carcinomas of upper third of oesophagus |
|
MONDO:0005580 |
| MONDO:0975046 |
post-transplant lymphoproliferative disorder, early lesion |
icd11.foundation:713946165 |
MONDO:equivalentTo |
Post-transplant lymphoproliferative disorder, early lesion |
A lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterised by the lack of tissue destruction and the architectural preservation of the involved tissues. It includes two morphologic variants: plasmacytic hyperplasia and infectious mononucleosis-like lymphoproliferative disorders. |
MONDO:0020083 |
| MONDO:0975047 |
multiple or widespread intracranial abscess |
icd11.foundation:714215906 |
MONDO:equivalentTo |
Multiple or widespread intracranial abscess |
Multiple focal suppurative infections within the cranial cavity, including the epidural and subdural spaces, or in the brain, brainstem or cerebellum. The abscesses are typically surrounded by a vascularised capsule. Cerebritis describes nonencapsulated brain abscesses. The infective agent may be bacterial, fungal, or parasitic. The signs and symptoms are variable but typically present as an expanding mass lesion, over a variable period of time, with headache, fever, and a focal neurologic deficit. Seizures may occur. Diagnosis is made by neuroimaging and microbiological testings as Gram stain and culture of abscess material. |
MONDO:0000939 |
| MONDO:0975048 |
congenital nephrotic syndrome |
icd11.foundation:714324575 |
MONDO:equivalentTo |
Congenital nephrotic syndrome |
|
MONDO:0005377 |
| MONDO:0975049 |
glomerular disorders in neuropathic heredofamilial amyloidosis |
icd11.foundation:714766208 |
MONDO:equivalentTo |
Glomerular disorders in neuropathic heredofamilial amyloidosis |
|
MONDO:0007100 |
| MONDO:0975050 |
x-linked lissencephaly - agenesis of corpus callosum - genital anomalies |
icd11.foundation:714984818 |
MONDO:equivalentTo |
X-linked lissencephaly - agenesis of corpus callosum - genital anomalies |
X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. |
MONDO:0015147 |
| MONDO:0975051 |
congenital nasal pyriform aperture stenosis |
icd11.foundation:715305088 |
MONDO:equivalentTo |
Congenital nasal pyriform aperture stenosis |
|
MONDO:0015503 |
| MONDO:0975052 |
trichinosis myositis |
icd11.foundation:71569019 |
MONDO:equivalentTo |
Trichinosis myositis |
|
MONDO:0019444 |
| MONDO:0975053 |
central retinal vein occlusion with angle neovascularization |
icd11.foundation:71679120 |
MONDO:equivalentTo |
Central retinal vein occlusion with angle neovascularization |
The central retinal vein is the venous equivalent of the central retinal artery and, like that blood vessel, it can suffer from occlusion, similar to that seen in ocular ischemic syndrome. This diagnosis is with the formation of functional microvascular networks with red blood cell perfusion of the angle. Neovascularization differs from angiogenesis in that angiogenesis is mainly characterised by the protrusion and outgrowth of capillary buds and sprouts from pre-existing blood vessels. |
MONDO:0002303 |
| MONDO:0975054 |
generalised chronic periodontitis |
icd11.foundation:717515290 |
MONDO:equivalentTo |
Generalised chronic periodontitis |
Chronic periodontitis can be further characterised by extent and severity. Extent is the number of sites involved and can be described as localised or generalised. As a general guide, extent can be characterised as generalised if >30% of the sites are affected |
MONDO:0005593 |
| MONDO:0975055 |
nicotine dependence, current use |
icd11.foundation:719650647 |
MONDO:equivalentTo |
Nicotine dependence, current use |
Current nicotine dependence with nicotine use within the past month. |
MONDO:0008575 |
| MONDO:0975056 |
zlotogora-ogur syndrome |
icd11.foundation:720286284 |
MONDO:equivalentTo |
Zlotogora-Ogur syndrome |
Zlotogora-Ogur syndrome is a cleft lip/palate-ectodermal dysplasia syndrome with limb involvement, characterised by cleft lip and palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. |
MONDO:0019287 |
| MONDO:0975057 |
inadequate personality disorder |
icd11.foundation:720643469 |
MONDO:equivalentTo |
Inadequate personality disorder |
|
MONDO:0001157 |
| MONDO:0975058 |
congenital idiopathic hypothyroidism |
icd11.foundation:720883616 |
MONDO:equivalentTo |
Congenital idiopathic hypothyroidism |
Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause is unknown. Clinical manifestations are those of other forms of congenital hypothyroidism. Goitre is always absent. Ultrasound examination and thyroid scintigraphy show a thyroid gland of normal shape and size in the normal, eutopic location. Idiopathic congenital hypothyroidism can be diagnosed after exclusion of the known causes of CH. |
MONDO:0016408 |
| MONDO:0975059 |
universal vitiligo |
icd11.foundation:720909694 |
MONDO:equivalentTo |
Universal vitiligo |
Vitiligo involving more than 80% of the body surface. |
MONDO:0008661 |
| MONDO:0975060 |
osteoporosis, upper arm |
icd11.foundation:721073978 |
MONDO:equivalentTo |
Osteoporosis, upper arm |
|
MONDO:0005298 |
| MONDO:0975061 |
proximal deletions of the long arm of chromosome 2 |
icd11.foundation:721296544 |
MONDO:equivalentTo |
Proximal deletions of the long arm of chromosome 2 |
|
MONDO:0016901 |
| MONDO:0975062 |
trichinosis due to trichinella pseudospiralis |
icd11.foundation:722283007 |
MONDO:equivalentTo |
Trichinosis due to Trichinella pseudospiralis |
|
MONDO:0019444 |
| MONDO:0975063 |
minor plague |
icd11.foundation:722526565 |
MONDO:equivalentTo |
Minor plague |
|
MONDO:0019095 |
| MONDO:0975064 |
alps-faslg (alps1b) |
icd11.foundation:723713073 |
MONDO:equivalentTo |
ALPS-FASLG (ALPS1b) |
|
MONDO:0017979 |
| MONDO:0975065 |
fibrous dysplasia of jaw |
icd11.foundation:724352176 |
MONDO:equivalentTo |
Fibrous dysplasia of jaw |
|
MONDO:0000845 |
| MONDO:0975066 |
schizoaffective disorder, continuous |
icd11.foundation:725134404 |
MONDO:equivalentTo |
Schizoaffective disorder, continuous |
Symptoms fulfilling all definitional requirements of Schizoaffective disorder have been present for almost all of the illness course over a period of at least one year, with periods of subthreshold symptoms being very brief relative to the overall course. |
MONDO:0005487 |
| MONDO:0975067 |
primary renal dysplasia |
icd11.foundation:725561098 |
MONDO:equivalentTo |
Primary renal dysplasia |
A condition characterised by abnormal development of one or both kidneys due to an abnormality of the kidney itself (rather than as a consequence of other genitourinary disorder or hereditary or multisystem disease). |
MONDO:0019638 |
| MONDO:0975068 |
systemic sclerosis with myopathy |
icd11.foundation:725634338 |
MONDO:equivalentTo |
Systemic sclerosis with myopathy |
|
MONDO:0005100 |
| MONDO:0975069 |
hypertrophy of nipple |
icd11.foundation:726138038 |
MONDO:equivalentTo |
Hypertrophy of nipple |
|
MONDO:0001100 |
| MONDO:0975070 |
limb-girdle muscular dystrophy 1c, caveolin myopathy |
icd11.foundation:726171912 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 1C, caveolin myopathy |
Autosomal dominant limb-girdle muscular dystrophy (LGMD) type 1C is a type of LGMD, a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved, and is characterised by childhood onset. It has not been associated with cardiac problems. |
MONDO:0015151 |
| MONDO:0975071 |
embryonal hepatoma of liver |
icd11.foundation:726638558 |
MONDO:equivalentTo |
Embryonal hepatoma of liver |
|
MONDO:0007256 |
| MONDO:0975072 |
initial stage of trachoma |
icd11.foundation:727668449 |
MONDO:equivalentTo |
Initial stage of trachoma |
This refers to the initial stage of an infectious disease caused by the Chlamydia trachomatis bacterium which produces a characteristic roughening of the inner surface of the eyelids. |
MONDO:0001249 |
| MONDO:0975073 |
enlarged vestibular aqueduct |
icd11.foundation:728419849 |
MONDO:equivalentTo |
Enlarged vestibular aqueduct |
Enlarged vestibular aqueduct is defined as a vestibular aqueduct midpoint width greater than 0.9mm and/or operculum width greater than 1.9mm. |
MONDO:0019497 |
| MONDO:0975074 |
palindromic rheumatism, hand |
icd11.foundation:728471816 |
MONDO:equivalentTo |
Palindromic rheumatism, hand |
|
MONDO:0001332 |
| MONDO:0975075 |
primary aphakia, bilateral |
icd11.foundation:728613297 |
MONDO:equivalentTo |
Primary aphakia, bilateral |
|
MONDO:0012456 |
| MONDO:0975076 |
osteoporosis, vertebral column |
icd11.foundation:728778713 |
MONDO:equivalentTo |
Osteoporosis, vertebral column |
|
MONDO:0005298 |
| MONDO:0975077 |
heparin-induced thrombocytopenia, type 1 |
icd11.foundation:728795479 |
MONDO:equivalentTo |
Heparin-induced thrombocytopenia, Type 1 |
|
MONDO:0018048 |
| MONDO:0975078 |
fear of open places |
icd11.foundation:730550011 |
MONDO:equivalentTo |
Fear of open places |
|
MONDO:0003709 |
| MONDO:0975079 |
infantile neuroaxonal dystrophy |
icd11.foundation:730637493 |
MONDO:equivalentTo |
Infantile neuroaxonal dystrophy |
Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA) characterised by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. |
MONDO:0018307 |
| MONDO:0975080 |
chronic maxillary sinus infection |
icd11.foundation:732707075 |
MONDO:equivalentTo |
Chronic maxillary sinus infection |
|
MONDO:0001122 |
| MONDO:0975081 |
pulmonary arterial hypertension induced by drugs or toxins |
icd11.foundation:733054261 |
MONDO:equivalentTo |
Pulmonary arterial hypertension induced by drugs or toxins |
This is an associated increase of blood pressure in the pulmonary arteries, leading to shortness of breath, dizziness, fainting, and other symptoms, all of which are exacerbated by exertion, induced by drugs and toxins. |
MONDO:0015924 |
| MONDO:0975082 |
duodenitis due to diseases classified elsewhere |
icd11.foundation:733221742 |
MONDO:equivalentTo |
Duodenitis due to diseases classified elsewhere |
This is an inflammation of duodenum due to other diseases, classified elsewhere, such as coeliac disease, Crohn disease, sarcoidosis and vasculitis. |
MONDO:0004627 |
| MONDO:0975083 |
myoneurogastrointestinal encephalopathy syndrome |
icd11.foundation:733688721 |
MONDO:equivalentTo |
Myoneurogastrointestinal encephalopathy syndrome |
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is a oxydative phosphorilation disorder characterised by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. |
MONDO:0018158 |
| MONDO:0975084 |
ventricular septal defect in tetralogy of fallot |
icd11.foundation:733868956 |
MONDO:equivalentTo |
Ventricular septal defect in tetralogy of Fallot |
|
MONDO:0008542 |
| MONDO:0975085 |
global aphasia |
icd11.foundation:734499693 |
MONDO:equivalentTo |
Global aphasia |
|
MONDO:0000598 |
| MONDO:0975086 |
familial hyperaldosteronism type 2 |
icd11.foundation:734646788 |
MONDO:equivalentTo |
Familial hyperaldosteronism type 2 |
Type 2 familial hyperaldosteronism is a genetic cause of hypertension secondary to primary aldosteronism that is not suppressed with dexamethasone. Patients present with an adrenal adenoma that secretes aldosterone. |
MONDO:0016525 |
| MONDO:0975087 |
multicystic renal dysplasia, bilateral |
icd11.foundation:734734699 |
MONDO:equivalentTo |
Multicystic renal dysplasia, bilateral |
This is renal cystic and consists of an expansion of immature cells, with a corresponding decrease in the number and location of mature cells. This diagnosis is due to renal tract obstruction. |
MONDO:0015988 |
| MONDO:0975088 |
tyrosinase-positive oculocutaneous albinism |
icd11.foundation:735894380 |
MONDO:equivalentTo |
Tyrosinase-positive oculocutaneous albinism |
This type of OCA is the commonest form of albinism in Sub-Saharan Africa and is characterised by the development of pigmented naevi and freckles in sun-exposed skin. |
MONDO:0008746 |
| MONDO:0975089 |
oppositional defiant disorder without chronic irritability-anger |
icd11.foundation:736540987 |
MONDO:equivalentTo |
Oppositional defiant disorder without chronic irritability-anger |
Meets all definitional requirements for oppositional defiant disorder. This form of oppositional defiant disorder is not characterised by prevailing, persistent, angry or irritable mood, but does feature headstrong, argumentative, and defiant behaviour. |
MONDO:0000495 |
| MONDO:0975090 |
limb-girdle muscular dystrophy 2g, telethonin gene mutation |
icd11.foundation:736940214 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2G, telethonin gene mutation |
Limb girdle muscular dystrophy (LGMD) type 2G belongs to the group of limb girdle muscular dystrophies which are genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved, and is characterised by anterior distal weakness and rimmed vacuoles. |
MONDO:0015152 |
| MONDO:0975091 |
subependymoma of brain |
icd11.foundation:737144375 |
MONDO:equivalentTo |
Subependymoma of brain |
A benign, slow growing neoplasm which is typically attached to a ventricular wall. It is composed of glial tumour cell clusters embedded in an abundant fibrillary matrix with frequent microcystic change. Some lesions have the histological features of both subependymoma and ependymoma. It is often detected incidentally and has a very favorable prognosis. |
MONDO:0016697 |
| MONDO:0975092 |
solitary bone cyst, hand |
icd11.foundation:737291751 |
MONDO:equivalentTo |
Solitary bone cyst, hand |
|
MONDO:0019372 |
| MONDO:0975093 |
osteoporosis associated with neurological disorders |
icd11.foundation:737321824 |
MONDO:equivalentTo |
Osteoporosis associated with neurological disorders |
|
MONDO:0005298 |
| MONDO:0975094 |
defects in o-mannosylglycan synthesis |
icd11.foundation:737401170 |
MONDO:equivalentTo |
Defects in O-mannosylglycan synthesis |
|
MONDO:0017741 |
| MONDO:0975095 |
congenital bowing of femur |
icd11.foundation:738312777 |
MONDO:equivalentTo |
Congenital bowing of femur |
A condition caused by failure of the femur to develop correctly during the antenatal period. This condition is characterised by abnormal angling of the femur. Confirmation is through observation of the bowed femur by imaging. |
MONDO:0008882 |
| MONDO:0975096 |
adrenal gland calcification |
icd11.foundation:739212201 |
MONDO:equivalentTo |
Adrenal gland calcification |
|
MONDO:0000004 |
| MONDO:0975097 |
progressive external ophthalmoplegia, autosomal dominant |
icd11.foundation:739314501 |
MONDO:equivalentTo |
Progressive external ophthalmoplegia, autosomal dominant |
Progressive external ophthalmoplegia is characterised by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe. |
MONDO:0016797 |
| MONDO:0975098 |
cannabis dependence, sustained partial remission |
icd11.foundation:740218593 |
MONDO:equivalentTo |
Cannabis dependence, sustained partial remission |
After a diagnosis of cannabis dependence, and often following a treatment episode or other intervention (including self-help intervention), there is a significant reduction in cannabis consumption for more than 12 months, such that even though cannabis use has occurred during this period, the definitional requirements for dependence have not been met. |
MONDO:0005689 |
| MONDO:0975099 |
hyperovarism |
icd11.foundation:740620410 |
MONDO:equivalentTo |
Hyperovarism |
|
MONDO:0001889 |
| MONDO:0975100 |
palindromic rheumatism, multiple sites |
icd11.foundation:740842083 |
MONDO:equivalentTo |
Palindromic rheumatism, multiple sites |
|
MONDO:0001332 |
| MONDO:0975101 |
acute chikungunya virus disease, atypical |
icd11.foundation:741637569 |
MONDO:equivalentTo |
Acute Chikungunya virus disease, atypical |
Acute, clinical case of laboratory-confirmed chikungunya accompanied by other manifestations: neurological, cardiovascular, dermatological, ophthalmological, hepatic, renal, respiratory, or haematological, among others. |
MONDO:0017941 |
| MONDO:0975102 |
certain specified forms of hereditary sensory or autonomic neuropathy |
icd11.foundation:742508630 |
MONDO:equivalentTo |
Certain specified forms of hereditary sensory or autonomic neuropathy |
This is a group of genetic disorders with various transmission patterns, in which autonomic dysfunction is prominent. |
MONDO:0015364 |
| MONDO:0975103 |
pulmonary langerhans cell histiocytosis specific to childhood |
icd11.foundation:742868104 |
MONDO:equivalentTo |
Pulmonary Langerhans cell histiocytosis specific to childhood |
|
MONDO:0017018 |
| MONDO:0975104 |
lh resistance due to partial lh receptor inactivation |
icd11.foundation:74297048 |
MONDO:equivalentTo |
LH resistance due to partial LH receptor inactivation |
This is a rare autosomal recessive genetic and endocrine syndrome, characterised by an inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signalling Leydig cells of the testicles to produce testos. This diagnosis is due to partial LH receptor inactivation. |
MONDO:0019155 |
| MONDO:0975105 |
mysophobia |
icd11.foundation:74344857 |
MONDO:equivalentTo |
Mysophobia |
|
MONDO:0012000 |
| MONDO:0975106 |
familial partial lipodystrophy due to lamin-a mutations |
icd11.foundation:743641234 |
MONDO:equivalentTo |
Familial partial lipodystrophy due to lamin-A mutations |
This refers to an autosomal dominant skin condition characterised by the loss of subcutaneous fat. This diagnosis is due to lamin-A mutations. |
MONDO:0020088 |
| MONDO:0975107 |
agranulocytic angina |
icd11.foundation:745700723 |
MONDO:equivalentTo |
Agranulocytic angina |
|
MONDO:0001609 |
| MONDO:0975108 |
sensorineural hearing loss - early greying - essential tremor |
icd11.foundation:746190981 |
MONDO:equivalentTo |
Sensorineural hearing loss - early greying - essential tremor |
Sensorineural hearing loss - early greying - essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. |
MONDO:0019589 |
| MONDO:0975109 |
ocular albinism - late-onset sensorineural deafness |
icd11.foundation:746470881 |
MONDO:equivalentTo |
Ocular albinism - late-onset sensorineural deafness |
Oculo-cutaneous albinism is a generic term covering a large group of genetic diseases characterised by hypopigmentation of eyes, hair and skin. The ocular anomalies are severe, the patients show reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors, and albinotic fundus with foveal hypoplasia. Skin hypopigmentation induces an increased risk of cutaneous cancer. |
MONDO:0019589 |
| MONDO:0975110 |
tuberculosis of other systems and organs |
icd11.foundation:746680558 |
MONDO:equivalentTo |
Tuberculosis of other systems and organs |
|
MONDO:0018076 |
| MONDO:0975111 |
bursitis with unknown aetiology, vertebral column |
icd11.foundation:747365231 |
MONDO:equivalentTo |
Bursitis with unknown aetiology, vertebral column |
|
MONDO:0002471 |
| MONDO:0975112 |
ataxia due to acquired vitamin deficiency |
icd11.foundation:747520181 |
MONDO:equivalentTo |
Ataxia due to acquired vitamin deficiency |
Ataxia can occur in the setting of vitamin deficiencies such as vitamin E, thiamine (B1), or cobalamin (B12) usually in the context of malabsorption in gastrointestinal disorders. |
MONDO:0016593 |
| MONDO:0975113 |
erythrodermic psoriasis |
icd11.foundation:748671833 |
MONDO:equivalentTo |
Erythrodermic psoriasis |
Erythrodermic psoriasis is a severe generalised inflammatory form of psoriasis characterised by confluent intense erythema involving more than 90% of the skin surface. Erythrodermic psoriasis usually develops from preceding extensive, active plaque psoriasis but may arise de novo. Precipitating or trigger factors include withdrawal of systemic glucocorticosteroids, and, less frequently, abrupt discontinuation of methotrexate, phototherapy burns, or intercurrent infections. Patients may develop hypothermia or high output cardiac failure. |
MONDO:0005083 |
| MONDO:0975114 |
graham-little syndrome |
icd11.foundation:74918330 |
MONDO:equivalentTo |
Graham-Little syndrome |
|
MONDO:0018879 |
| MONDO:0975115 |
syndromic corneal dystrophy |
icd11.foundation:749233960 |
MONDO:equivalentTo |
Syndromic corneal dystrophy |
|
MONDO:0018102 |
| MONDO:0975116 |
chronic tracheitis |
icd11.foundation:749533575 |
MONDO:equivalentTo |
Chronic tracheitis |
|
MONDO:0005607 |
| MONDO:0975117 |
solitary bone cyst, multiple sites |
icd11.foundation:749858446 |
MONDO:equivalentTo |
Solitary bone cyst, multiple sites |
|
MONDO:0019372 |
| MONDO:0975118 |
cannabis dependence, sustained full remission |
icd11.foundation:750347921 |
MONDO:equivalentTo |
Cannabis dependence, sustained full remission |
After a diagnosis of cannabis dependence, and often following a treatment episode or other intervention (including self-intervention), the person has been abstinent from cannabis for 12 months or longer. |
MONDO:0005689 |
| MONDO:0975119 |
immune-mediated heart block |
icd11.foundation:750481375 |
MONDO:equivalentTo |
Immune-mediated heart block |
Congenital heart block of any degree associated with the trans-placental transfer of maternal autoantibodies |
MONDO:0009326 |
| MONDO:0975120 |
drug-induced thyroiditis |
icd11.foundation:750489718 |
MONDO:equivalentTo |
Drug-induced thyroiditis |
Thyroiditis caused by prescription drugs such as amiodarone, lithium, interferons and cytokines. |
MONDO:0004126 |
| MONDO:0975121 |
benign neoplasm of the posterior tongue |
icd11.foundation:750823407 |
MONDO:equivalentTo |
Benign neoplasm of the posterior tongue |
|
MONDO:0021476 |
| MONDO:0975122 |
fuchs endothelial corneal dystrophy |
icd11.foundation:751091713 |
MONDO:equivalentTo |
Fuchs endothelial corneal dystrophy |
Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterised by excrescences on a thickened Descemet membrane (corneal guttae), generalised corneal oedema, with gradually decreased visual acuity. |
MONDO:0020214 |
| MONDO:0975123 |
muscle carnitine deficiency |
icd11.foundation:751256076 |
MONDO:equivalentTo |
Muscle carnitine deficiency |
|
MONDO:0017716 |
| MONDO:0975124 |
congenital bowing of humerus |
icd11.foundation:75196205 |
MONDO:equivalentTo |
Congenital bowing of humerus |
|
MONDO:0008882 |
| MONDO:0975125 |
paralytic lagophthalmos lower eyelid |
icd11.foundation:752186747 |
MONDO:equivalentTo |
Paralytic lagophthalmos lower eyelid |
|
MONDO:0001603 |
| MONDO:0975126 |
20p12.2 deletion |
icd11.foundation:752423645 |
MONDO:equivalentTo |
20p12.2 deletion |
|
MONDO:0016898 |
| MONDO:0975127 |
purulent myositis |
icd11.foundation:752486039 |
MONDO:equivalentTo |
Purulent myositis |
|
MONDO:0023483 |
| MONDO:0975128 |
riedel thyroiditis |
icd11.foundation:753383431 |
MONDO:equivalentTo |
Riedel thyroiditis |
Chronic inflammatory disease involving the thyroid and surrounding cervical tissues characterised by a dense fibrosis |
MONDO:0004126 |
| MONDO:0975129 |
osteochondrodystrophy |
icd11.foundation:753590142 |
MONDO:equivalentTo |
Osteochondrodystrophy |
|
MONDO:0019249 |
| MONDO:0975130 |
distal duplications of the long arm of chromosome 3 |
icd11.foundation:754262276 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 3 |
|
MONDO:0016954 |
| MONDO:0975131 |
travel sickness |
icd11.foundation:754441975 |
MONDO:equivalentTo |
Travel sickness |
|
MONDO:0008015 |
| MONDO:0975132 |
brissaud's infantilism or dwarfism |
icd11.foundation:754815894 |
MONDO:equivalentTo |
Brissaud's infantilism or dwarfism |
|
MONDO:0005152 |
| MONDO:0975133 |
miscellaneous specified forms of hair loss |
icd11.foundation:756797875 |
MONDO:equivalentTo |
Miscellaneous specified forms of hair loss |
A heterogeneous group of conditions where there is alopecia or hair loss |
MONDO:0004907 |
| MONDO:0975134 |
congenital fibrosis of extraocular muscles 1b |
icd11.foundation:75702703 |
MONDO:equivalentTo |
Congenital fibrosis of extraocular muscles 1B |
|
MONDO:0007614 |
| MONDO:0975135 |
kashin-beck disease, head |
icd11.foundation:758207402 |
MONDO:equivalentTo |
Kashin-Beck disease, head |
|
MONDO:0005610 |
| MONDO:0975136 |
moderate personality disorder |
icd11.foundation:758339377 |
MONDO:equivalentTo |
Moderate personality disorder |
All general diagnostic requirements for Personality Disorder are met. Disturbances affect multiple areas of personality functioning (e.g., identity or sense of self, ability to form intimate relationships, ability to control impulses and modulate behaviour). However, some areas of personality functioning may be relatively less affected. There are marked problems in most interpersonal relationships and the performance of most expected social and occupational roles is compromised to some degree. Relationships are likely to be characterised by conflict, avoidance, withdrawal, or extreme dependency (e.g., few friendships maintained, persistent conflict in work relationships and consequent occupational problems, romantic relationships characterised by serious disruption or inappropriate submissiveness). Specific manifestations of personality disturbance are generally of moderate severity. Moderate Personality Disorder is sometimes associated with harm to self or others, and is associated with marked impairment in personal, family, social, educational, occupational or other important areas of functioning, although functioning in circumscribed areas may be maintained. |
MONDO:0002028 |
| MONDO:0975137 |
congenital entropion, unilateral |
icd11.foundation:758805037 |
MONDO:equivalentTo |
Congenital entropion, unilateral |
This is an inversion of the edge of an eyelid that occurs only in one eye and is present since birth, resulting in irritation of the cornea. |
MONDO:0034971 |
| MONDO:0975138 |
thyrotoxicosis factitia |
icd11.foundation:758919242 |
MONDO:equivalentTo |
Thyrotoxicosis factitia |
A condition of thyrotoxicosis caused by the ingestion of exogenous thyroid hormone |
MONDO:0010138 |
| MONDO:0975139 |
haemangioblastoma of retina |
icd11.foundation:758919434 |
MONDO:equivalentTo |
Haemangioblastoma of retina |
|
MONDO:0021453 |
| MONDO:0975140 |
red cell aplasia with thymoma |
icd11.foundation:758973659 |
MONDO:equivalentTo |
Red cell aplasia with thymoma |
|
MONDO:0020338 |
| MONDO:0975141 |
old age dementia |
icd11.foundation:759326836 |
MONDO:equivalentTo |
Old age dementia |
|
MONDO:0001627 |
| MONDO:0975142 |
benign neoplasm of prepuce of penis |
icd11.foundation:760047234 |
MONDO:equivalentTo |
Benign neoplasm of prepuce of penis |
|
MONDO:0021458 |
| MONDO:0975143 |
post haemorrhagic hydrocephalus |
icd11.foundation:760084407 |
MONDO:equivalentTo |
Post haemorrhagic hydrocephalus |
#DRAFT# This is a condition of hydrocephalus developing after SAH, head injuries and spontaneous intracerebral haemorrhages. Most of the time it is resolved with temporary EVD (external ventricular drain) but some need a permanent VP shunt. |
MONDO:0002045 |
| MONDO:0975144 |
medial deletions of the short arm of chromosome 1 |
icd11.foundation:760112556 |
MONDO:equivalentTo |
Medial deletions of the short arm of chromosome 1 |
|
MONDO:0016883 |
| MONDO:0975145 |
cluster headache |
icd11.foundation:760621151 |
MONDO:equivalentTo |
Cluster headache |
Attacks of severe, strictly unilateral pain which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 minutes and occurring from once every other day to eight times a day. The pain is associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhoea, forehead and facial sweating, miosis, ptosis and/or eyelid oedema, and/or with restlessness or agitation. |
MONDO:0015530 |
| MONDO:0975146 |
effusive-constrictive pericarditis |
icd11.foundation:761372018 |
MONDO:equivalentTo |
Effusive-constrictive pericarditis |
This is simultaneous presence of pericardial effusion and constrictive pericarditis, usually involving the visceral pericardium. |
MONDO:0006711 |
| MONDO:0975147 |
neuroendocrine neoplasms of ampulla of vater |
icd11.foundation:761397346 |
MONDO:equivalentTo |
Neuroendocrine neoplasms of ampulla of Vater |
|
MONDO:0017590 |
| MONDO:0975148 |
ethmoidal sinus abscess |
icd11.foundation:762989786 |
MONDO:equivalentTo |
Ethmoidal sinus abscess |
|
MONDO:0004757 |
| MONDO:0975149 |
vertebral artery aneurysm |
icd11.foundation:763065860 |
MONDO:equivalentTo |
Vertebral artery aneurysm |
|
MONDO:0019543 |
| MONDO:0975150 |
desmoplastic mesothelioma of pleura |
icd11.foundation:764165691 |
MONDO:equivalentTo |
Desmoplastic mesothelioma of pleura |
|
MONDO:0006292 |
| MONDO:0975151 |
hypertensive retinopathy, stage 2, focal arteriolar narrowing, marked generalised arteriolar narrowing, arteriovenous nicking, opacity, copper wiring of arteriolar wall, or a combination of these signs |
icd11.foundation:764502123 |
MONDO:equivalentTo |
Hypertensive Retinopathy, Stage 2, focal arteriolar narrowing, marked generalised arteriolar narrowing, arteriovenous nicking, opacity, copper wiring of arteriolar wall, or a combination of these signs |
|
MONDO:0006797 |
| MONDO:0975152 |
exfoliative cheilitis |
icd11.foundation:764789342 |
MONDO:equivalentTo |
Exfoliative cheilitis |
Exfoliative cheilitis is a chronic superficial inflammatory disorder of the vermilion border of the lips characterised by persistent scaling. It is most commonly attributed to self-inflicted injury from chewing, sucking or picking. |
MONDO:0002102 |
| MONDO:0975153 |
crohn disease of large intestine |
icd11.foundation:765321840 |
MONDO:equivalentTo |
Crohn disease of large intestine |
Crohns disease, which is characterised by chronic and relapsing transmural inflammation, may affect any part of the digestive tract. This refers to Crohn disease involved in the large intestine. |
MONDO:0005011 |
| MONDO:0975154 |
proximal duplications of the long arm of chromosome 16 |
icd11.foundation:765626317 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 16 |
|
MONDO:0016966 |
| MONDO:0975155 |
congenital meningocele |
icd11.foundation:766441237 |
MONDO:equivalentTo |
Congenital meningocele |
|
MONDO:0008449 |
| MONDO:0975156 |
toxic megacolon due to ulcerative colitis |
icd11.foundation:766466445 |
MONDO:equivalentTo |
Toxic megacolon due to ulcerative colitis |
This is an acute form of colonic distension, and is characterised by a very dilated colon (megacolon), accompanied by abdominal distension (bloating), and sometimes fever, abdominal pain, or shock, due to a form of inflammatory bowel disease (IBD). |
MONDO:0002105 |
| MONDO:0975157 |
disseminated fusariosis |
icd11.foundation:76698570 |
MONDO:equivalentTo |
Disseminated fusariosis |
Disseminated fusariosis is an invasive fungal infection casued by Fusarium species. It is seen in immunocompromised patients and is particularly associated with haematological disorders. It typically presents s multiple necrotic lesions . Diagnosis is confirmed by identifying Fusarium in blood cultures. |
MONDO:0016426 |
| MONDO:0975158 |
benign neoplasm of pyloric antrum |
icd11.foundation:767004392 |
MONDO:equivalentTo |
Benign neoplasm of pyloric antrum |
|
MONDO:0021449 |
| MONDO:0975159 |
osteoporosis, lower leg |
icd11.foundation:767128657 |
MONDO:equivalentTo |
Osteoporosis, lower leg |
|
MONDO:0005298 |
| MONDO:0975160 |
teratogenic congenital retinal dysplasia |
icd11.foundation:767297747 |
MONDO:equivalentTo |
Teratogenic congenital retinal dysplasia |
|
MONDO:0020247 |
| MONDO:0975161 |
autism spectrum disorder with disorder of intellectual development and with mild or no impairment of functional language |
icd11.foundation:767360910 |
MONDO:equivalentTo |
Autism spectrum disorder with disorder of intellectual development and with mild or no impairment of functional language |
All definitional requirements for both autism spectrum disorder and disorder of intellectual development are met and there is only mild or no impairment in the individual's capacity to use functional language (spoken or signed) for instrumental purposes, such as to express personal needs and desires. |
MONDO:0005258 |
| MONDO:0975162 |
multiple peritoneal serositis |
icd11.foundation:767599037 |
MONDO:equivalentTo |
Multiple peritoneal serositis |
|
MONDO:0004522 |
| MONDO:0975163 |
paraneoplastic cerebellar degeneration, neural autoantibody negative |
icd11.foundation:768468924 |
MONDO:equivalentTo |
Paraneoplastic cerebellar degeneration, neural autoantibody negative |
Paraneoplastic cerebellar degeneration seronegative for neural autoantibodies. |
MONDO:0044877 |
| MONDO:0975164 |
sarcomatoid malignant mesothelioma of pleura |
icd11.foundation:768737749 |
MONDO:equivalentTo |
Sarcomatoid malignant mesothelioma of pleura |
|
MONDO:0006292 |
| MONDO:0975165 |
multiple epiphyseal dysplasia type 2 |
icd11.foundation:769495215 |
MONDO:equivalentTo |
Multiple epiphyseal dysplasia type 2 |
|
MONDO:0015627 |
| MONDO:0975166 |
3-methylcrotonylglycinuria |
icd11.foundation:769681951 |
MONDO:equivalentTo |
3-methylcrotonylglycinuria |
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an organic aciduria due to a disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. Most symptomatic patients have normal growth and development until presenting with an acute metabolic crisis between 2 and 33 months of age manifesting as vomiting, opisthotonus, involuntary movements, seizures, coma and apnoea, and that are often accompanied by severe hypoglycaemia, ketoacidosis and mild hyperammonemia. |
MONDO:0019215 |
| MONDO:0975167 |
chronic abscess of breast |
icd11.foundation:769734226 |
MONDO:equivalentTo |
Chronic abscess of breast |
|
MONDO:0000749 |
| MONDO:0975168 |
parasitic twin |
icd11.foundation:770383939 |
MONDO:equivalentTo |
Parasitic twin |
|
MONDO:0958083 |
| MONDO:0975169 |
adenoid squamous cell carcinoma of hypopharynx |
icd11.foundation:771948358 |
MONDO:equivalentTo |
Adenoid squamous cell carcinoma of hypopharynx |
|
MONDO:0044638 |
| MONDO:0975170 |
scleroconjunctivitis |
icd11.foundation:772489791 |
MONDO:equivalentTo |
Scleroconjunctivitis |
|
MONDO:0001718 |
| MONDO:0975171 |
cortical apraxia |
icd11.foundation:773390315 |
MONDO:equivalentTo |
Cortical apraxia |
|
MONDO:0000665 |
| MONDO:0975172 |
secondary pneumonic plague |
icd11.foundation:773419791 |
MONDO:equivalentTo |
Secondary pneumonic plague |
|
MONDO:0001024 |
| MONDO:0975173 |
myelitis due to noninfectious, inflammatory or autoimmune disorders |
icd11.foundation:774220228 |
MONDO:equivalentTo |
Myelitis due to noninfectious, inflammatory or autoimmune disorders |
|
MONDO:0002565 |
| MONDO:0975174 |
recurrent idiopathic thrombophlebitis |
icd11.foundation:774990902 |
MONDO:equivalentTo |
Recurrent idiopathic thrombophlebitis |
|
MONDO:0001954 |
| MONDO:0975175 |
gonococcal conjunctivitis neonatorum |
icd11.foundation:775287300 |
MONDO:equivalentTo |
Gonococcal conjunctivitis neonatorum |
|
MONDO:0015455 |
| MONDO:0975176 |
hyper-igm syndrome without susceptibility to opportunistic infections |
icd11.foundation:776254602 |
MONDO:equivalentTo |
Hyper-IgM syndrome without susceptibility to opportunistic infections |
|
MONDO:0015131 |
| MONDO:0975177 |
syntactic aphasia |
icd11.foundation:776258015 |
MONDO:equivalentTo |
Syntactic aphasia |
|
MONDO:0000598 |
| MONDO:0975178 |
pituitary abscess |
icd11.foundation:777604655 |
MONDO:equivalentTo |
Pituitary abscess |
|
MONDO:0000939 |
| MONDO:0975179 |
single pulmonary hyalinizing granuloma |
icd11.foundation:777637705 |
MONDO:equivalentTo |
Single pulmonary hyalinizing granuloma |
|
MONDO:0006933 |
| MONDO:0975180 |
rosette-forming glioneuronal tumour of the fourth ventricle |
icd11.foundation:777819208 |
MONDO:equivalentTo |
Rosette-forming glioneuronal tumour of the fourth ventricle |
|
MONDO:0016729 |
| MONDO:0975181 |
mediastinal thymic large b-cell lymphoma |
icd11.foundation:778119268 |
MONDO:equivalentTo |
Mediastinal thymic large B-cell lymphoma |
|
MONDO:0020323 |
| MONDO:0975182 |
suppurative pancreatitis |
icd11.foundation:778232056 |
MONDO:equivalentTo |
Suppurative pancreatitis |
|
MONDO:0006515 |
| MONDO:0975183 |
splenic primary panhaematopenia |
icd11.foundation:778826502 |
MONDO:equivalentTo |
Splenic primary panhaematopenia |
|
MONDO:0006795 |
| MONDO:0975184 |
giant cell carcinoma of hypopharynx |
icd11.foundation:779108417 |
MONDO:equivalentTo |
Giant cell carcinoma of hypopharynx |
|
MONDO:0044638 |
| MONDO:0975185 |
benign tumour of external lip |
icd11.foundation:779563848 |
MONDO:equivalentTo |
Benign tumour of external lip |
|
MONDO:0021496 |
| MONDO:0975186 |
hereditary sensory and autonomic neuropathy type ia |
icd11.foundation:779564433 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy Type IA |
Hereditary sensory autonomic neuropathy type I is an autosomal dominant (mutation in the SPTLC1 gene that encodes for subunit 1 of serine palmitoyltransferase) sensory radiculo neuropathy that presents in the second decade. It present with distal pain and nociceptive and thermal perception deficits, later to be followed by anhidrosis, trophic ulcers, acral injuries, stress fractures and osteomyelitis. |
MONDO:0018213 |
| MONDO:0975187 |
chondrocalcinosis, pelvic region or thigh |
icd11.foundation:779836931 |
MONDO:equivalentTo |
Chondrocalcinosis, pelvic region or thigh |
|
MONDO:0001314 |
| MONDO:0975188 |
congenital intrauterine infection-like syndrome |
icd11.foundation:780151108 |
MONDO:equivalentTo |
Congenital intrauterine infection-like syndrome |
Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. |
MONDO:0017119 |
| MONDO:0975189 |
coloboma of macula, unilateral |
icd11.foundation:780504013 |
MONDO:equivalentTo |
Coloboma of macula, unilateral |
|
MONDO:0007351 |
| MONDO:0975190 |
subacute pancreatitis |
icd11.foundation:780605544 |
MONDO:equivalentTo |
Subacute pancreatitis |
|
MONDO:0006515 |
| MONDO:0975191 |
autoantibody negative autoimmune hepatitis |
icd11.foundation:780794174 |
MONDO:equivalentTo |
Autoantibody negative autoimmune hepatitis |
This is a inflammatory disease caused by immune system cells attacking the liver. It occurs without seropositivity for autoantibodies, proteins directed towards one's own body. |
MONDO:0016264 |
| MONDO:0975192 |
hypothymic personality disorder |
icd11.foundation:781591531 |
MONDO:equivalentTo |
Hypothymic personality disorder |
|
MONDO:0001442 |
| MONDO:0975193 |
autosomal dominant ataxia |
icd11.foundation:782552318 |
MONDO:equivalentTo |
Autosomal dominant ataxia |
Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA3) or may additionally involve the retina (ADCA2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA1) or may describe a cerebellar syndrome with the occurrence of epilepsy (ACDA4). |
MONDO:0100309 |
| MONDO:0975194 |
benign neoplasm of nasopharyngeal wall |
icd11.foundation:784574752 |
MONDO:equivalentTo |
Benign neoplasm of nasopharyngeal wall |
|
MONDO:0021478 |
| MONDO:0975195 |
congestive glottis |
icd11.foundation:784966026 |
MONDO:equivalentTo |
Congestive glottis |
|
MONDO:0001369 |
| MONDO:0975196 |
congenital urethral occlusion |
icd11.foundation:785481147 |
MONDO:equivalentTo |
Congenital urethral occlusion |
|
MONDO:0018559 |
| MONDO:0975197 |
gastric ulcer due to diseases classified elsewhere |
icd11.foundation:786110341 |
MONDO:equivalentTo |
Gastric ulcer due to diseases classified elsewhere |
This is a non-infectious secondary ulcer or erosion of the stomach due to other diseases, classified elsewhere, such as Crohn disease, Zollinger-Ellison syndrome, sarcoidosis, or vasculitis. |
MONDO:0001126 |
| MONDO:0975198 |
limb-girdle muscular dystrophy-dystroglycanopathy c7 |
icd11.foundation:787117844 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy-dystroglycanopathy C7 |
Limb-girdle muscular dystrophy-dystroglycanopathy (type C7; MDDGC7) is caused by homozygous mutation in the ISPD gene on chromosome 7p21. ISPD encodes an isoprenoid synthase domain-containing protein. It is characterised by childhood onset of proximal muscle weakness affecting the lower limbs more than the upper limbs. |
MONDO:0015152 |
| MONDO:0975199 |
juvenile polymyositis with overlap to non-organ specific systemic autoimmune disorder |
icd11.foundation:787148073 |
MONDO:equivalentTo |
Juvenile polymyositis with overlap to non-organ specific systemic autoimmune disorder |
Juvenile polymyositis with overlap to non-organ specific systemic autoimmune disorder is a rare childhood idiopathic inflammatory myopathy associated with other autoimmune or connective tissue disorders, such as systemic sclerosis and mixed connective tissue disease. |
MONDO:0019734 |
| MONDO:0975200 |
defects in o-xylosyl/n-acetylgalactosaminylglycan synthesis |
icd11.foundation:787374780 |
MONDO:equivalentTo |
Defects in O-xylosyl/N-acetylgalactosaminylglycan synthesis |
|
MONDO:0017741 |
| MONDO:0975201 |
mansonelliasis due to mansonella perstans |
icd11.foundation:787856511 |
MONDO:equivalentTo |
Mansonelliasis due to Mansonella perstans |
|
MONDO:0005838 |
| MONDO:0975202 |
benign neoplasm of uveal tract |
icd11.foundation:787995917 |
MONDO:equivalentTo |
Benign neoplasm of uveal tract |
|
MONDO:0021486 |
| MONDO:0975203 |
lymphangitis due to unspecified bacteria |
icd11.foundation:788007323 |
MONDO:equivalentTo |
Lymphangitis due to unspecified bacteria |
|
MONDO:0005832 |
| MONDO:0975204 |
congenital myasthenia with synaptic basal lamina defects |
icd11.foundation:7881372 |
MONDO:equivalentTo |
Congenital myasthenia with synaptic basal lamina defects |
Synaptic basal lamina-associated congenital myasthenic syndrome accounts for 115% of myasthenic cases and includes endplate acetylecholinesterase deficiency, Laminin ?2 deficiency and Agrin anomaly. |
MONDO:0018940 |
| MONDO:0975205 |
autosomal dominant dyskeratosis congenita |
icd11.foundation:788242257 |
MONDO:equivalentTo |
Autosomal dominant dyskeratosis congenita |
|
MONDO:0015780 |
| MONDO:0975206 |
unspecified frostbite of thorax |
icd11.foundation:788865757 |
MONDO:equivalentTo |
Unspecified frostbite of thorax |
|
MONDO:0800177 |
| MONDO:0975207 |
undescended testicle, unspecified laterality, canalicular |
icd11.foundation:79003774 |
MONDO:equivalentTo |
Undescended testicle, unspecified laterality, canalicular |
|
MONDO:0009047 |
| MONDO:0975208 |
maternal uniparental disomy of chromosome 7 |
icd11.foundation:790159386 |
MONDO:equivalentTo |
Maternal uniparental disomy of chromosome 7 |
|
MONDO:0020056 |
| MONDO:0975209 |
brachydactyly - arterial hypertension |
icd11.foundation:790171484 |
MONDO:equivalentTo |
Brachydactyly - arterial hypertension |
Brachydactyly - arterial hypertension syndrome is characterised by the association of brachydactyly and severe hypertension that responds to antihypertensive drugs. |
MONDO:0019695 |
| MONDO:0975210 |
keratosis linearis ichthyosis congenita keratoderma |
icd11.foundation:790497320 |
MONDO:equivalentTo |
Keratosis linearis ichthyosis congenita keratoderma |
|
MONDO:0017262 |
| MONDO:0975211 |
rosacea fulminans |
icd11.foundation:790685985 |
MONDO:equivalentTo |
Rosacea fulminans |
Rosacea fulminans is characterised by an abrupt onset of inflammatory papules, pustules and fluctuant nodules on a background of facial oedema and erythema. It typically affects the nose, malar region, chin, and temporal and frontal regions. Seborrhoea and facial flushing frequently precede rosacea fulminans. Constitutional symptoms are usually mild with low grade fever and/or myalgia in only a minority of cases. Recurrence is rare but hypertrophic or varioliform scars may remain. Its aetiology and nosology are disputed. Milder forms of this disorder have been termed rosacea conglobata. |
MONDO:0006604 |
| MONDO:0975212 |
infection due to fasciola indica |
icd11.foundation:791108937 |
MONDO:equivalentTo |
Infection due to fasciola indica |
|
MONDO:0004668 |
| MONDO:0975213 |
complete trisomy 18, translocation |
icd11.foundation:791112257 |
MONDO:equivalentTo |
Complete trisomy 18, translocation |
|
MONDO:0018071 |
| MONDO:0975214 |
niemann-pick disease type c, severe perinatal |
icd11.foundation:791115227 |
MONDO:equivalentTo |
Niemann-Pick disease type C, severe perinatal |
|
MONDO:0018982 |
| MONDO:0975215 |
alcoholic hepatitis without mention of cirrhosis |
icd11.foundation:791567370 |
MONDO:equivalentTo |
Alcoholic hepatitis without mention of cirrhosis |
|
MONDO:0001505 |
| MONDO:0975216 |
other forms of azoospermia |
icd11.foundation:793191566 |
MONDO:equivalentTo |
Other forms of azoospermia |
Lack of spermatozoa in the semen as a consequence of aspermatogenesis. |
MONDO:0100459 |
| MONDO:0975217 |
complex primary lymphoedema |
icd11.foundation:793241368 |
MONDO:equivalentTo |
Complex primary lymphoedema |
Syndromes of which lymphoedema is a component |
MONDO:0019175 |
| MONDO:0975218 |
acth-independent cushing syndrome due to bilateral adrenocortical hyperplasia |
icd11.foundation:794811291 |
MONDO:equivalentTo |
ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia |
This refers to an ACTH-independent condition with signs and symptoms associated with prolonged exposure to inappropriately high levels of the hormone cortisol. This diagnosis is due to bilateral adrenocortical hyperplasia. |
MONDO:0020529 |
| MONDO:0975219 |
dementia due to alzheimer disease |
icd11.foundation:795022044 |
MONDO:equivalentTo |
Dementia due to Alzheimer disease |
Dementia due to Alzheimer disease is the most common form of dementia. Onset is insidious with memory impairment typically reported as the initial presenting complaint. The characteristic course is a slow but steady decline from a previous level of cognitive functioning with impairment in additional cognitive domains (such as executive functions, attention, language, social cognition and judgment, psychomotor speed, visuoperceptual or visuospatial abilities) emerging with disease progression. Dementia due to Alzheimer disease may be accompanied by mental and behavioural symptoms such as depressed mood and apathy in the initial stages of the disease and may be accompanied by psychotic symptoms, irritability, aggression, confusion, abnormalities of gait and mobility, and seizures at later stages. Positive genetic testing, family history and gradual cognitive decline are suggestive of Dementia due to Alzheimer disease. |
MONDO:0001627 |
| MONDO:0975220 |
infection by fasciola gigantica |
icd11.foundation:795153833 |
MONDO:equivalentTo |
Infection by fasciola gigantica |
|
MONDO:0004668 |
| MONDO:0975221 |
carcinoma in situ of suprahyoid portion of epiglottis |
icd11.foundation:796352023 |
MONDO:equivalentTo |
Carcinoma in situ of suprahyoid portion of epiglottis |
|
MONDO:0021287 |
| MONDO:0975222 |
juvenile psoriatic arthritis, rheumatoid factor negative, hla b27 negative |
icd11.foundation:796731802 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, rheumatoid factor negative, HLA B27 negative |
|
MONDO:0019436 |
| MONDO:0975223 |
8p duplication |
icd11.foundation:796805818 |
MONDO:equivalentTo |
8p duplication |
|
MONDO:0016945 |
| MONDO:0975224 |
molle lipoma of unspecified site |
icd11.foundation:798109888 |
MONDO:equivalentTo |
Molle lipoma of unspecified site |
|
MONDO:0005106 |
| MONDO:0975225 |
nakajo-nishimura syndrome |
icd11.foundation:798723102 |
MONDO:equivalentTo |
Nakajo-Nishimura syndrome |
Nakajo-Nishimura syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome group, and characterised by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures. |
MONDO:0020087 |
| MONDO:0975226 |
congenital larynx atresia |
icd11.foundation:798758075 |
MONDO:equivalentTo |
Congenital larynx atresia |
|
MONDO:0015504 |
| MONDO:0975227 |
hodgkin disease, nodular sclerosis, syncytial variant |
icd11.foundation:79969006 |
MONDO:equivalentTo |
Hodgkin disease, nodular sclerosis, syncytial variant |
|
MONDO:0004665 |
| MONDO:0975228 |
ischaemic spinal necrosis |
icd11.foundation:799829042 |
MONDO:equivalentTo |
Ischaemic spinal necrosis |
|
MONDO:0005380 |
| MONDO:0975229 |
nonsuppurative otitis media |
icd11.foundation:800153181 |
MONDO:equivalentTo |
Nonsuppurative otitis media |
#DRAFT# This is inflammation of the middle ear, or middle ear infection. It occurs in the area between the tympanic membrane and the inner ear, including a duct known as the eustachian tube. |
MONDO:0005441 |
| MONDO:0975230 |
paratyphoid fever c |
icd11.foundation:800386953 |
MONDO:equivalentTo |
Paratyphoid fever C |
Paratyphoid fever C is caused by Salmonella enterica serotype paratyphi C (Salmonella paratyphi C) and is similar to typhoid fever. Salmonella paratyphi C (Salmonella hirschfeldii) is isolated much less frequently than Salmonella typhi. |
MONDO:0018626 |
| MONDO:0975231 |
idiopathic aseptic osteonecrosis, neck |
icd11.foundation:800737497 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, neck |
|
MONDO:0018380 |
| MONDO:0975232 |
banti syndrome |
icd11.foundation:801049792 |
MONDO:equivalentTo |
Banti syndrome |
|
MONDO:0005080 |
| MONDO:0975233 |
upper limb hypertrophy, bilateral |
icd11.foundation:801331155 |
MONDO:equivalentTo |
Upper limb hypertrophy, bilateral |
|
MONDO:0017476 |
| MONDO:0975234 |
delirium due to psychoactive substances including medications |
icd11.foundation:80203879 |
MONDO:equivalentTo |
Delirium due to psychoactive substances including medications |
All definitional requirements for delirium are met. There is evidence from history, physical examination, or laboratory findings that the delirium is caused by the direct physiological effects of a substance or medication (including withdrawal). If the specific substance inducing the delirium has been identified, it should be classified using the appropriate subcategory (e.g., alcohol-induced delirium). |
MONDO:0045057 |
| MONDO:0975235 |
partial duplication of urethra |
icd11.foundation:802068357 |
MONDO:equivalentTo |
Partial duplication of urethra |
|
MONDO:0016529 |
| MONDO:0975236 |
encephalomyopathic mitochondrial dna depletion syndrome with renal tubulopathy |
icd11.foundation:802186282 |
MONDO:equivalentTo |
Encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy |
This is a form of encephalomyopathy that is associated with a mitochondrial disease. This diagnosis is with a disease affecting the renal tubules of the nephron. |
MONDO:0016796 |
| MONDO:0975237 |
hypochondriasis with fair to good insight |
icd11.foundation:80299449 |
MONDO:equivalentTo |
Hypochondriasis with fair to good insight |
All definitional requirements of hypochondriasis are met. Much of the time, the individual is able to entertain the possibility that his or her disorder-specific beliefs may not be true and is willing to accept an alternative explanation for his or her experience. At circumscribed times (e.g., when highly anxious), the individual may demonstrate no insight. |
MONDO:0001596 |
| MONDO:0975238 |
canomad - [chronic sensory ataxic neuropathy with anti-dyalosyl igm antibodies] syndrome |
icd11.foundation:803014219 |
MONDO:equivalentTo |
CANOMAD - [Chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies] syndrome |
CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy with marked sensory ataxia and areflexia, and with relatively preserved motor function in the limbs. |
MONDO:0006702 |
| MONDO:0975239 |
phosphomannose isomerase deficiency |
icd11.foundation:803079134 |
MONDO:equivalentTo |
Phosphomannose isomerase deficiency |
CDG syndrome type Ib is a Congenital Disorder of Glycosylation characterised by hepatic-intestinal manifestations (diarrhoea, vomiting, and hepatomegaly associated with hepatic fibrosis). |
MONDO:0017740 |
| MONDO:0975240 |
certain specified ocular manifestations of vitamin a deficiency |
icd11.foundation:803591871 |
MONDO:equivalentTo |
Certain specified ocular manifestations of vitamin A deficiency |
|
MONDO:0001250 |
| MONDO:0975241 |
localised hypertrichosis |
icd11.foundation:80395417 |
MONDO:equivalentTo |
Localised hypertrichosis |
|
MONDO:0019280 |
| MONDO:0975242 |
medullary sponge kidney, unilateral |
icd11.foundation:804548805 |
MONDO:equivalentTo |
Medullary sponge kidney, unilateral |
A condition characterised by cystic or saccular dilatations of the medullary collecting ducts seen with radiocontrast filling affecting one kidney. A predisposition to stones and associated often with renal tubular acidosis. There is no clear genetic predisposition. |
MONDO:0015268 |
| MONDO:0975243 |
bone anomaly of skull, with anencephaly |
icd11.foundation:804591696 |
MONDO:equivalentTo |
Bone anomaly of skull, with anencephaly |
|
MONDO:0000819 |
| MONDO:0975244 |
displacement of macula |
icd11.foundation:805863840 |
MONDO:equivalentTo |
Displacement of macula |
|
MONDO:0020247 |
| MONDO:0975245 |
von willebrand disease type 3 |
icd11.foundation:805917536 |
MONDO:equivalentTo |
Von Willebrand disease type 3 |
Type 3 von Willebrand disease is the most severe form of VWD characterised by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). The type 3 disease is the rarest form of VWD, accounting for less than 5% of all cases. |
MONDO:0019565 |
| MONDO:0975246 |
spondylolisthesis, lumbosacral region |
icd11.foundation:806059769 |
MONDO:equivalentTo |
Spondylolisthesis, lumbosacral region |
|
MONDO:0008475 |
| MONDO:0975247 |
nodular prurigo |
icd11.foundation:806314148 |
MONDO:equivalentTo |
Nodular prurigo |
A chronic highly pruritic dermatosis of poorly understood aetiology which presents with multiple warty nodules on the skin, particularly on the limbs. Exudation, crusting and scale result from repeated scratching. |
MONDO:0021739 |
| MONDO:0975248 |
brachydactyly of toes |
icd11.foundation:806966862 |
MONDO:equivalentTo |
Brachydactyly of toes |
A condition caused by failure of the toes to correctly develop during the antenatal period. This condition is characterised by below normal toe length. |
MONDO:0021004 |
| MONDO:0975249 |
congenital absence, atresia or stenosis of ileum |
icd11.foundation:8070082 |
MONDO:equivalentTo |
Congenital absence, atresia or stenosis of ileum |
Malformation of the ileum, the lower part of the small intestine. This refers to congenital absence, obstruction with complete occlusion of the intestinal lumen (atresia), or partial occlusion with incomplete obstruction (stenosis) of ileum. |
MONDO:0009476 |
| MONDO:0975250 |
lissencephaly type 3 - metacarpal bone dysplasia |
icd11.foundation:807545724 |
MONDO:equivalentTo |
Lissencephaly type 3 - metacarpal bone dysplasia |
Lissencephaly type 3 - metacarpal bone dysplasia syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. |
MONDO:0015148 |
| MONDO:0975251 |
acute multiple neuropathy |
icd11.foundation:807634751 |
MONDO:equivalentTo |
Acute multiple neuropathy |
|
MONDO:0001824 |
| MONDO:0975252 |
carotid sinus syncope |
icd11.foundation:807757446 |
MONDO:equivalentTo |
Carotid sinus syncope |
|
MONDO:0001295 |
| MONDO:0975253 |
leigh syndrome due to cytochrome c oxidase deficiency |
icd11.foundation:808132257 |
MONDO:equivalentTo |
Leigh syndrome due to cytochrome C oxidase deficiency |
This refers to a rare neurometabolic disorder that affects the central nervous system. This diagnosis is with a large transmembrane protein complex found in bacteria and the mitochondrion. |
MONDO:0009723 |
| MONDO:0975254 |
sulfite oxidase deficiency |
icd11.foundation:808747119 |
MONDO:equivalentTo |
Sulfite oxidase deficiency |
|
MONDO:0019222 |
| MONDO:0975255 |
retinal migraine |
icd11.foundation:808957197 |
MONDO:equivalentTo |
Retinal migraine |
Repeated attacks of monocular visual disturbance, including scintillations, scotomata or blindness, associated with migraine headache. |
MONDO:0005475 |
| MONDO:0975256 |
transient congenital hypothyroidism due to maternal intake of antithyroid drugs |
icd11.foundation:809146001 |
MONDO:equivalentTo |
Transient congenital hypothyroidism due to maternal intake of antithyroid drugs |
Transient congenital hypothyroidism can develop in a fetus and newborn if their mother is being treated with antithyroid drugs, such as, carbimazole, methimazole (MMI), or propylthiouracil (PTU), for the treatment of Graves disease. Transient symptoms include an enlarged thyroid gland and respiratory problems. The hypothyroidism, goitre, and associated symptoms resolve once the drug has been cleared from the circulation. |
MONDO:0015792 |
| MONDO:0975257 |
suppurative cholecystitis without calculus |
icd11.foundation:809574867 |
MONDO:equivalentTo |
Suppurative cholecystitis without calculus |
|
MONDO:0043994 |
| MONDO:0975258 |
familial parkinson disease |
icd11.foundation:811427861 |
MONDO:equivalentTo |
Familial Parkinson disease |
Familial subtype of Parkinson Disease, a disorder caused by progressive dopaminergic neuron degeneration of the substantia nigra that is characterized by resting tremor, bradykinesia, and rigidity. Familial cases can be caused by mutations in LRRK2, PARK7, PINK1, PRKN, or SNCA genes. |
MONDO:0005180 |
| MONDO:0975259 |
post-transplant lymphoproliferative disorder, infectious mononucleosis-like |
icd11.foundation:811840017 |
MONDO:equivalentTo |
Post-transplant lymphoproliferative disorder, Infectious mononucleosis-like |
|
MONDO:0020083 |
| MONDO:0975260 |
hand-schller-christian disease |
icd11.foundation:812427240 |
MONDO:equivalentTo |
Hand-Schller-Christian disease |
This is associated with multifocal Langerhans cell histiocytosis and is associated with a triad of exophthalmos, lytic bone lesions (often in the skull), and diabetes insipidus (from pituitary stalk infiltration). |
MONDO:0018310 |
| MONDO:0975261 |
tuberculosis of intrathoracic lymph nodes, without mention of bacteriological or histological confirmation |
icd11.foundation:81247738 |
MONDO:equivalentTo |
Tuberculosis of intrathoracic lymph nodes, without mention of bacteriological or histological confirmation |
This is a common, and in many cases lethal, infectious disease of intrathoracic lymph nodes caused by various strains of mycobacteria, usually Mycobacterium tuberculosis. This diagnosis is without mention of bacteriological or histological confirmation. |
MONDO:0957462 |
| MONDO:0975262 |
severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation |
icd11.foundation:813059965 |
MONDO:equivalentTo |
Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation |
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterised by microcephaly, growth retardation, and T and B cell lymphopenia. |
MONDO:0015131 |
| MONDO:0975263 |
bilateral megalencephaly |
icd11.foundation:813123830 |
MONDO:equivalentTo |
Bilateral megalencephaly |
|
MONDO:0016608 |
| MONDO:0975264 |
anaplastic ganglioglioma of brain |
icd11.foundation:813272495 |
MONDO:equivalentTo |
Anaplastic ganglioglioma of brain |
|
MONDO:0016729 |
| MONDO:0975265 |
subcutaneous dirofilariasis |
icd11.foundation:813571137 |
MONDO:equivalentTo |
Subcutaneous dirofilariasis |
Subcutaneous dirofilariasis normally results from the transmission of microfilariae of Dirofilaria repens from the latters natural animal host to man via a mosquito bite. The adult worm cannot develop fully in man but typically manifests as a subcutaneous nodule, commonly located on or around the eyelids. |
MONDO:0015636 |
| MONDO:0975266 |
aml m5a |
icd11.foundation:813594646 |
MONDO:equivalentTo |
AML M5a |
|
MONDO:0007896 |
| MONDO:0975267 |
x-linked ataxia |
icd11.foundation:813815063 |
MONDO:equivalentTo |
X-linked ataxia |
|
MONDO:0100309 |
| MONDO:0975268 |
dermatitis gangrenosa |
icd11.foundation:813863744 |
MONDO:equivalentTo |
Dermatitis gangrenosa |
|
MONDO:0018824 |
| MONDO:0975269 |
proximal duplications of the long arm of chromosome 7 |
icd11.foundation:814222243 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 7 |
|
MONDO:0016958 |
| MONDO:0975270 |
ruptured meningeal brain aneurysm |
icd11.foundation:81466382 |
MONDO:equivalentTo |
Ruptured meningeal brain aneurysm |
|
MONDO:0019543 |
| MONDO:0975271 |
distal deletions of the long arm of chromosome 10 |
icd11.foundation:814724520 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 10 |
|
MONDO:0016909 |
| MONDO:0975272 |
complications of graft-versus-host disease |
icd11.foundation:81493060 |
MONDO:equivalentTo |
Complications of graft-versus-host disease |
Specific morbid sequelae of graft-versus-host disease |
MONDO:0013730 |
| MONDO:0975273 |
hereditary dysfibrinogenaemia |
icd11.foundation:815934276 |
MONDO:equivalentTo |
Hereditary dysfibrinogenaemia |
Familial dysfibrinogenaemia is a coagulation disorder characterised by a bleeding tendency due to a functional anomaly of circulating fibrinogen. |
MONDO:0018060 |
| MONDO:0975274 |
teratospermia |
icd11.foundation:816312970 |
MONDO:equivalentTo |
Teratospermia |
A condition of the genital system affecting males that is idiopathic. This condition is characterised by abnormal morphology of sperm. This condition may also present with infertility, asthenospermia or lack of sperm adherence to the ovum. Confirmation is by identification of less than 4% normal forms of sperm in a semen analysis. |
MONDO:0005372 |
| MONDO:0975275 |
benign neoplasm of eyeball |
icd11.foundation:818007959 |
MONDO:equivalentTo |
Benign neoplasm of eyeball |
|
MONDO:0021486 |
| MONDO:0975276 |
oppositional defiant disorder with chronic irritability-anger |
icd11.foundation:818792113 |
MONDO:equivalentTo |
Oppositional defiant disorder with chronic irritability-anger |
All definitional requirements for oppositional defiant disorder are met. This form of oppositional defiant disorder is characterised by prevailing, persistent angry or irritable mood that may be present independent of any apparent provocation. The negative mood is often accompanied by regularly occurring severe temper outbursts that are grossly out of proportion in intensity or duration to the provocation. Chronic irritability and anger are characteristic of the individuals functioning nearly every day, are observable across multiple settings or domains of functioning (e.g., home, school, social relationships), and are not restricted to the individuals relationship with his/her parents or guardians. The pattern of chronic irritability and anger is not limited to occasional episodes (e.g., developmentally typical irritability) or discrete periods (e.g., irritable mood in the context of manic or depressive episodes). |
MONDO:0000495 |
| MONDO:0975277 |
complement component c8 deficiency |
icd11.foundation:819190482 |
MONDO:equivalentTo |
Complement component C8 deficiency |
This is a protein involved in the complement system. A hereditary deficiency of C8 can result in increased susceptibility to Neisseria infections, such as meningitis and gonorrhoea. |
MONDO:0015700 |
| MONDO:0975278 |
toxocariasis due to toxocara cati |
icd11.foundation:819690183 |
MONDO:equivalentTo |
Toxocariasis due to Toxocara cati |
A condition caused by an infection with the parasitic worm Toxocara cati. This condition presents with symptoms depending on the site of infection. This condition may also be asymptomatic. Transmission is by the faecal-oral route through the ingestion of food, water, or soil that contains Toxocara cati eggs (contaminated by faeces from an infected cat). Confirmation is by detection of antibodies against Toxocara cati in a blood sample or identification of Toxocara cati eggs in a faecal sample. |
MONDO:0005988 |
| MONDO:0975279 |
melanocytoma of the eyeball |
icd11.foundation:820546937 |
MONDO:equivalentTo |
Melanocytoma of the eyeball |
|
MONDO:0021486 |
| MONDO:0975280 |
suppurative choledochitis |
icd11.foundation:820616822 |
MONDO:equivalentTo |
Suppurative choledochitis |
|
MONDO:0004789 |
| MONDO:0975281 |
chronic kidney disease, stage 5 |
icd11.foundation:820638928 |
MONDO:equivalentTo |
Chronic kidney disease, stage 5 |
Kidney failure, GFR < 15 ml/min/1.73m |
MONDO:0005300 |
| MONDO:0975282 |
saguenay-lac-saint-jean cytochrome c oxidase deficiency |
icd11.foundation:820983487 |
MONDO:equivalentTo |
Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency |
Saguenay-Lac-Saint-Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterised by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. |
MONDO:0009723 |
| MONDO:0975283 |
early onset benign occipital epilepsy, panayiotopoulos type |
icd11.foundation:821291892 |
MONDO:equivalentTo |
Early onset benign occipital epilepsy, Panayiotopoulos type |
An epilepsy syndrome usually presenting in early childhood with focal seizures with autonomic features, commonly vomiting, and motor features such as eye deviation. Seizures are often prolonged. The EEG commonly shows stereotypic high amplitude focal spikes and may be activated by sleep. Only 25% of cases have frequent seizures. Remission usually occurs within a few years. An electroencephalogram is normal in 10% of patients. In 90% of patients there are occipital spikes which often shift from one region to another in sequential EEGs. A polygenetic cause is likely. |
MONDO:0007558 |
| MONDO:0975284 |
paternal 20q13.2q13.3 deletion |
icd11.foundation:821654086 |
MONDO:equivalentTo |
Paternal 20q13.2q13.3 deletion |
Paternal 20q13.2q13.3 microdeletion syndrome is a chromosomal anomaly characterised by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. The syndrome is caused by an interstitial deletion of paternal origin at 20q13.2q13.3. |
MONDO:0016918 |
| MONDO:0975285 |
t-cell prolymphocytic leukaemia in complete remission |
icd11.foundation:82188617 |
MONDO:equivalentTo |
T-cell prolymphocytic leukaemia in complete remission |
|
MONDO:0019468 |
| MONDO:0975286 |
papillary cystadenocarcinoma of ovary |
icd11.foundation:821923032 |
MONDO:equivalentTo |
Papillary cystadenocarcinoma of ovary |
|
MONDO:0008170 |
| MONDO:0975287 |
crohn disease of rectum |
icd11.foundation:82199936 |
MONDO:equivalentTo |
Crohn disease of rectum |
|
MONDO:0005011 |
| MONDO:0975288 |
congenital urinary meatus stricture |
icd11.foundation:822467823 |
MONDO:equivalentTo |
Congenital urinary meatus stricture |
|
MONDO:0018559 |
| MONDO:0975289 |
aneurysmal bone cyst, head |
icd11.foundation:822489653 |
MONDO:equivalentTo |
Aneurysmal bone cyst, head |
|
MONDO:0018815 |
| MONDO:0975290 |
hypoglossia |
icd11.foundation:822844319 |
MONDO:equivalentTo |
Hypoglossia |
|
MONDO:0015497 |
| MONDO:0975291 |
chronic multiple neuropathy |
icd11.foundation:822972047 |
MONDO:equivalentTo |
Chronic multiple neuropathy |
|
MONDO:0001824 |
| MONDO:0975292 |
fibrodysplasia ossificans progressiva, shoulder region |
icd11.foundation:823219409 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, shoulder region |
|
MONDO:0007606 |
| MONDO:0975293 |
acute bronchiolitis with bronchospasm |
icd11.foundation:825174631 |
MONDO:equivalentTo |
Acute bronchiolitis with bronchospasm |
|
MONDO:0020680 |
| MONDO:0975294 |
congenital junctional ectopic tachycardia |
icd11.foundation:825451184 |
MONDO:equivalentTo |
Congenital junctional ectopic tachycardia |
Tachycardia present at birth or presenting within the first year of life. |
MONDO:0017989 |
| MONDO:0975295 |
congenital central hypothyroidism due to isolated tsh deficiency |
icd11.foundation:825890929 |
MONDO:equivalentTo |
Congenital central hypothyroidism due to isolated TSH deficiency |
This refers to a congenital central state in which the thyroid gland does not make enough thyroid hormone. This diagnosis is due to isolated TSH deficiency. |
MONDO:0016410 |
| MONDO:0975296 |
acromelic frontonasal dysplasia |
icd11.foundation:82602737 |
MONDO:equivalentTo |
Acromelic frontonasal dysplasia |
|
MONDO:0800085 |
| MONDO:0975297 |
atresia of bladder neck |
icd11.foundation:826037053 |
MONDO:equivalentTo |
Atresia of bladder neck |
|
MONDO:0018559 |
| MONDO:0975298 |
oral-facial-digital syndrome type 11 |
icd11.foundation:826545898 |
MONDO:equivalentTo |
Oral-facial-digital syndrome type 11 |
Oral-facial-digital syndrome type 11 is an extremely rare, sporadic form of oral-facial-digital syndrome, characterised by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe mental retardation, deafness and congenital heart defects. |
MONDO:0015375 |
| MONDO:0975299 |
osteoarthritis of other specified joint |
icd11.foundation:827418604 |
MONDO:equivalentTo |
Osteoarthritis of other specified joint |
|
MONDO:0005178 |
| MONDO:0975300 |
chronic mediastinitis |
icd11.foundation:828645896 |
MONDO:equivalentTo |
Chronic mediastinitis |
|
MONDO:0004492 |
| MONDO:0975301 |
idiopathic aseptic osteonecrosis, ankle or foot |
icd11.foundation:82895521 |
MONDO:equivalentTo |
Idiopathic aseptic osteonecrosis, ankle or foot |
|
MONDO:0018380 |
| MONDO:0975302 |
cleft lip, unilateral |
icd11.foundation:829320510 |
MONDO:equivalentTo |
Cleft lip, unilateral |
|
MONDO:0016043 |
| MONDO:0975303 |
hereditary sensory and autonomic neuropathy type id |
icd11.foundation:829370043 |
MONDO:equivalentTo |
Hereditary sensory and autonomic neuropathy Type ID |
HASN Type ID is an autosomal dominant disorder due to mutations in the ATL1 gene. It presents in early adulthood with severe loss of pain, temperature and vibration sensations, ulcero-mutilation, spastic paraparesis and rare autonomic involvement |
MONDO:0018213 |
| MONDO:0975304 |
familial spinal neurofibromatosis |
icd11.foundation:830273438 |
MONDO:equivalentTo |
Familial spinal neurofibromatosis |
|
MONDO:0018975 |
| MONDO:0975305 |
medial duplications of the short arm of chromosome 1 |
icd11.foundation:831395471 |
MONDO:equivalentTo |
Medial duplications of the short arm of chromosome 1 |
|
MONDO:0017012 |
| MONDO:0975306 |
hypophysis infarct |
icd11.foundation:831923471 |
MONDO:equivalentTo |
Hypophysis infarct |
|
MONDO:0015127 |
| MONDO:0975307 |
congenital lipoid adrenal hyperplasia due to star deficiency |
icd11.foundation:832786122 |
MONDO:equivalentTo |
Congenital lipoid adrenal hyperplasia due to STAR deficiency |
This is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH). This diagnosis is due to STAR deficiency. |
MONDO:0018479 |
| MONDO:0975308 |
frontal sinus suppuration |
icd11.foundation:833179449 |
MONDO:equivalentTo |
Frontal sinus suppuration |
|
MONDO:0001120 |
| MONDO:0975309 |
calcific tendinitis, vertebral column |
icd11.foundation:834502926 |
MONDO:equivalentTo |
Calcific tendinitis, vertebral column |
|
MONDO:0001903 |
| MONDO:0975310 |
osteonecrosis due to trauma, lower leg |
icd11.foundation:835600633 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, lower leg |
|
MONDO:0018375 |
| MONDO:0975311 |
mannosyltransferase 1 deficiency |
icd11.foundation:836240672 |
MONDO:equivalentTo |
Mannosyltransferase 1 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ik is characterised by psychomotor delay, seizures, microcephaly and coagulation anomalies. Other manifestations (hepatic dysfunction, cardiomyopathy, nephrotic syndrome, hypogonadism and severe infections) may also be present. It has been described in four boys, three of whom died within the first year of life. The syndrome is associated with mutations in the ALG gene (localised to the p13.3 region of chromosome 16) leading to a deficiency in the endoplasmic reticulum enzyme beta-1,4-mannosyltransferase. |
MONDO:0017740 |
| MONDO:0975312 |
distal duplications of the short arm of chromosome 8 |
icd11.foundation:836346135 |
MONDO:equivalentTo |
Distal duplications of the short arm of chromosome 8 |
|
MONDO:0016945 |
| MONDO:0975313 |
limb-kinetic apraxia |
icd11.foundation:836539267 |
MONDO:equivalentTo |
Limb-kinetic apraxia |
|
MONDO:0000665 |
| MONDO:0975314 |
congenital stenosis of external auditory canal |
icd11.foundation:83656815 |
MONDO:equivalentTo |
Congenital stenosis of external auditory canal |
|
MONDO:0015385 |
| MONDO:0975315 |
deletions of chromosome 4 |
icd11.foundation:83746811 |
MONDO:equivalentTo |
Deletions of chromosome 4 |
|
MONDO:0020054 |
| MONDO:0975316 |
congenital dyserythropoietic anaemia type ii |
icd11.foundation:83815022 |
MONDO:equivalentTo |
Congenital dyserythropoietic anaemia type II |
This is a rare genetic anaemia in humans characterised by hereditary erythroblastic multinuclearity with positive acidified serum lysis test. |
MONDO:0019403 |
| MONDO:0975317 |
chorioepithelioma of unspecified site |
icd11.foundation:838371881 |
MONDO:equivalentTo |
Chorioepithelioma of unspecified site |
|
MONDO:0020550 |
| MONDO:0975318 |
prune belly syndrome, complete form |
icd11.foundation:838406613 |
MONDO:equivalentTo |
Prune belly syndrome, complete form |
|
MONDO:0007032 |
| MONDO:0975319 |
abscess of the corpus callosum |
icd11.foundation:838770280 |
MONDO:equivalentTo |
Abscess of the corpus callosum |
|
MONDO:0000939 |
| MONDO:0975320 |
ectropion of cervix with cervicitis |
icd11.foundation:838809865 |
MONDO:equivalentTo |
Ectropion of cervix with cervicitis |
|
MONDO:0002345 |
| MONDO:0975321 |
lung hepatization |
icd11.foundation:838827800 |
MONDO:equivalentTo |
Lung hepatization |
|
MONDO:0005249 |
| MONDO:0975322 |
intermittent hydrarthrosis, pelvic region or thigh |
icd11.foundation:839625364 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, pelvic region or thigh |
|
MONDO:0018015 |
| MONDO:0975323 |
disorders of sodium metabolism |
icd11.foundation:84056128 |
MONDO:equivalentTo |
Disorders of sodium metabolism |
|
MONDO:0017761 |
| MONDO:0975324 |
lupus panniculitis |
icd11.foundation:84064653 |
MONDO:equivalentTo |
Lupus panniculitis |
Lupus panniculitis is characterised by a destructive inflammation of subcutaneous fat. This manifests itself clinically as indurated plaques which resolve with localised fat atrophy. Depending on the intensity of the inflammation a patient may first present with atrophy rather than induration. The overlying skin may show changes of chronic cutaneous lupus erythematosus. The face, upper arms, upper trunk, breasts, buttocks and thighs are most commonly affected. |
MONDO:0015574 |
| MONDO:0975325 |
delusional disorder, in partial remission |
icd11.foundation:841168541 |
MONDO:equivalentTo |
Delusional disorder, in partial remission |
All definitional requirements for Delusional disorder in terms of symptoms and duration were previously met. Symptoms have ameliorated such that the diagnostic requirements for the disorder have not been met for at least one month, but some clinically significant symptoms remain, which may or may not be associated with functional impairment. The partial remission may have occurred in response to medication or other treatment. |
MONDO:0004359 |
| MONDO:0975326 |
subcoracoid-pectoralis minor syndrome |
icd11.foundation:842039734 |
MONDO:equivalentTo |
Subcoracoid-pectoralis minor syndrome |
|
MONDO:0005979 |
| MONDO:0975327 |
low-flow priapism |
icd11.foundation:842663091 |
MONDO:equivalentTo |
Low-flow priapism |
Ischaemic, painful priapism caused by venous stasis in the cavernosal bodies. |
MONDO:0004745 |
| MONDO:0975328 |
distal acquired demyelinating sensory neuropathy associated with igm paraprotein |
icd11.foundation:842885372 |
MONDO:equivalentTo |
Distal acquired demyelinating sensory neuropathy associated with IgM paraprotein |
Polyneuropathy associated with IgM monoclonal gammopathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a pure or predominantly sensory polyneuropathy with a chronic clinical course. The MG is generally benign or defined as monoclonal gammopathy of unknown significance (MGUS). |
MONDO:0006702 |
| MONDO:0975329 |
dermoid of cornea |
icd11.foundation:843612759 |
MONDO:equivalentTo |
Dermoid of cornea |
|
MONDO:0021452 |
| MONDO:0975330 |
cryptosporidial enteritis |
icd11.foundation:843941399 |
MONDO:equivalentTo |
Cryptosporidial enteritis |
This refers to an infection of the small intestine with a genus of protozoans, Cryptosporidium that causes diarrhoea in humans. Cryptosporidium is the organism most commonly isolated in HIV-positive patients presenting with diarrhoea. |
MONDO:0015474 |
| MONDO:0975331 |
juvenile to adult onset myotonic dystrophy |
icd11.foundation:844053282 |
MONDO:equivalentTo |
Juvenile to adult onset myotonic dystrophy |
Juvenile to adult onset myotonic dystrophy (DM) is an inherited muscular disorder. In the juvenile form symptoms appear between birth and adolescence, whereas in the adult form the onset is in individuals aged 20-40. Typical clinical manifestations include facial weakness, eyelids ptosis, muscle wasting in the forearms and calves, difficulty relaxing the grasp, and cardiac conduction defects. DM also causes constipation, cataracts, retinal degeneration, low IQ, early frontal balding, testicular atrophy, diabetes, and sleep apnoea. Severe disabilities do not usually set in until about 20 years after symptoms begin, and most patients maintain the ability to walk. |
MONDO:0008056 |
| MONDO:0975332 |
alcohol withdrawal with perceptual disturbances |
icd11.foundation:844301129 |
MONDO:equivalentTo |
Alcohol withdrawal with perceptual disturbances |
All diagnostic requirements for Alcohol withdrawal are met and the withdrawal state is accompanied by perceptual disturbances (e.g., visual or tactile hallucinations or illusions) with intact reality testing. There is no evidence of confusion and other diagnostic requirements for Delirium are not met. The withdrawal state is not accompanied by seizures. |
MONDO:0005433 |
| MONDO:0975333 |
benign neoplasm of suprarenal gland |
icd11.foundation:844407960 |
MONDO:equivalentTo |
Benign neoplasm of suprarenal gland |
|
MONDO:0021511 |
| MONDO:0975334 |
46,xx androgen-induced disorder of sex development due to maternal adrenal hyperplasia |
icd11.foundation:844518165 |
MONDO:equivalentTo |
46,XX androgen-induced disorder of sex development due to maternal adrenal hyperplasia |
This refers to 46,XX disorders of sex development induced by any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of male characteristics in vertebrates by binding to androgen receptors. This is due to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). |
MONDO:0019608 |
| MONDO:0975335 |
synovial cyst, not elsewhere classified |
icd11.foundation:844780796 |
MONDO:equivalentTo |
Synovial cyst, not elsewhere classified |
|
MONDO:0002471 |
| MONDO:0975336 |
osteoporosis due to malabsorption |
icd11.foundation:844980278 |
MONDO:equivalentTo |
Osteoporosis due to malabsorption |
|
MONDO:0005298 |
| MONDO:0975337 |
monostotic fibrous dysplasia, shoulder region |
icd11.foundation:845281987 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, shoulder region |
|
MONDO:0019665 |
| MONDO:0975338 |
other disorders of intestinal carbohydrate absorption |
icd11.foundation:845972170 |
MONDO:equivalentTo |
Other disorders of intestinal carbohydrate absorption |
|
MONDO:0017706 |
| MONDO:0975339 |
ovarian hypergonadism |
icd11.foundation:846421652 |
MONDO:equivalentTo |
Ovarian hypergonadism |
|
MONDO:0001889 |
| MONDO:0975340 |
tyrolean infantile cirrhosis |
icd11.foundation:846753319 |
MONDO:equivalentTo |
Tyrolean infantile cirrhosis |
|
MONDO:0016204 |
| MONDO:0975341 |
subcutaneous granuloma annulare |
icd11.foundation:846824673 |
MONDO:equivalentTo |
Subcutaneous granuloma annulare |
Subcutaneous granuloma annulare occurs predominantly in children as subcutaneous nodules, especially around the anterior aspects of the lower legs, hands, head, and buttocks. In only about a quarter of cases are they associated with classical dermal granuloma annulare. They bear a resemblance both clinically and histologically to rheumatoid nodules but are not associated with rheumatoid disease. |
MONDO:0006554 |
| MONDO:0975342 |
20q11.2q12 deletion |
icd11.foundation:846939555 |
MONDO:equivalentTo |
20q11.2q12 deletion |
|
MONDO:0016918 |
| MONDO:0975343 |
ischaemic pituitary necrosis |
icd11.foundation:847051842 |
MONDO:equivalentTo |
Ischaemic pituitary necrosis |
|
MONDO:0005152 |
| MONDO:0975344 |
hallucinogen dependence, current use |
icd11.foundation:847208228 |
MONDO:equivalentTo |
Hallucinogen dependence, current use |
Current hallucinogen dependence with hallucinogen use within the past month. |
MONDO:0004939 |
| MONDO:0975345 |
juvenile sandhoff disease |
icd11.foundation:847224547 |
MONDO:equivalentTo |
Juvenile Sandhoff disease |
|
MONDO:0010006 |
| MONDO:0975346 |
secondary intracranial hypotension |
icd11.foundation:847306949 |
MONDO:equivalentTo |
Secondary intracranial hypotension |
#DRAFT# This is a drop of pressure inside the skull due to an underlying known cause. Often, it results because of a cerebrospinal fluid leak. |
MONDO:0006811 |
| MONDO:0975347 |
heterochromia |
icd11.foundation:84750333 |
MONDO:equivalentTo |
Heterochromia |
|
MONDO:0019503 |
| MONDO:0975348 |
mucinous cystic neoplasms with low- or intermediate-grade dysplasia of pancreas |
icd11.foundation:847862831 |
MONDO:equivalentTo |
Mucinous cystic neoplasms with low- or intermediate-grade dysplasia of pancreas |
|
MONDO:0021470 |
| MONDO:0975349 |
clove syndrome |
icd11.foundation:848061609 |
MONDO:equivalentTo |
CLOVE syndrome |
CLOVE syndrome is characterised by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi. Patients also present with disproportionate fat distribution. |
MONDO:0019716 |
| MONDO:0975350 |
alps-nras |
icd11.foundation:849070109 |
MONDO:equivalentTo |
ALPS-NRAS |
|
MONDO:0017979 |
| MONDO:0975351 |
congenital complete heart block |
icd11.foundation:849625003 |
MONDO:equivalentTo |
Congenital complete heart block |
Complete heart block that is present at birth |
MONDO:0009326 |
| MONDO:0975352 |
endometriosis of the digestive system |
icd11.foundation:850474319 |
MONDO:equivalentTo |
Endometriosis of the digestive system |
|
MONDO:0005133 |
| MONDO:0975353 |
congenital aplasia of uterus |
icd11.foundation:850545739 |
MONDO:equivalentTo |
Congenital aplasia of uterus |
|
MONDO:0015844 |
| MONDO:0975354 |
acquired angioedema type i |
icd11.foundation:850631759 |
MONDO:equivalentTo |
Acquired angioedema type I |
An acquired disorder which resembles hereditary angioedema but is associated with an underlying disorder, in the majority of cases lymphoproliferative. |
MONDO:0019624 |
| MONDO:0975355 |
shigellosis due to shigella sonnei |
icd11.foundation:852199222 |
MONDO:equivalentTo |
Shigellosis due to Shigella sonnei |
A condition caused by an infection with the gram-negative bacteria Shigella sonnei. This condition is characterised by diarrhoea, fever, or stomach cramps. Transmission is commonly by the faecal-oral route, possibly by ingestion of contaminated foods, or direct contact. Confirmation is by identification of Shigella sonnei in a faecal sample. |
MONDO:0019345 |
| MONDO:0975356 |
primary congenital glaucoma, unilateral |
icd11.foundation:852569698 |
MONDO:equivalentTo |
Primary congenital glaucoma, unilateral |
|
MONDO:0000365 |
| MONDO:0975357 |
radiculopathy, occipito-atlanto-axial region |
icd11.foundation:852668340 |
MONDO:equivalentTo |
Radiculopathy, occipito-atlanto-axial region |
|
MONDO:0002959 |
| MONDO:0975358 |
symptomatic form of becker muscular dystrophy in female carriers |
icd11.foundation:853926582 |
MONDO:equivalentTo |
Symptomatic form of Becker muscular dystrophy in female carriers |
Becker muscular dystrophy (BMD) in females carriers are characterised by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. Prevalence is unknown: Only a small percentage of female carriers have been reported to manifest these diseases (19% of female carriers from families with BMD). Symptomatic female carriers usually present later in life. Females with clinical features of BMD are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome (complete or partial absence of an X chromosome). The prognosis for symptomatic female carriers is variable, but the disease course tends to be milder in females than in males and progression is slow. |
MONDO:0010311 |
| MONDO:0975359 |
late syphilis |
icd11.foundation:854229089 |
MONDO:equivalentTo |
Late syphilis |
A disease caused by an infection with the gram-negative bacteria Treponema pallidum pallidum. This disease is characterised by gummas, neurological abnormalities, or cardiac abnormalities. Clinical signs normally manifest approximately 3-15 years after initial infection. Transmission is commonly by sexual contact. |
MONDO:0005976 |
| MONDO:0975360 |
congenital myopathy with structural abnormalities |
icd11.foundation:854289056 |
MONDO:equivalentTo |
Congenital myopathy with structural abnormalities |
Distinct group of inherited disorders of skeletal muscles which have characteristic structural abnormalities on muscle immuno-histochemistry. |
MONDO:0019952 |
| MONDO:0975361 |
10p11.21p12.31 deletion |
icd11.foundation:854527338 |
MONDO:equivalentTo |
10p11.21p12.31 deletion |
|
MONDO:0016892 |
| MONDO:0975362 |
fibrodysplasia ossificans progressiva, vertebral column |
icd11.foundation:856050496 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, vertebral column |
|
MONDO:0007606 |
| MONDO:0975363 |
intraductal papillary mucinous neoplasm with low- or intermediate grade dysplasia of pancreas |
icd11.foundation:85622097 |
MONDO:equivalentTo |
Intraductal papillary mucinous neoplasm with low- or intermediate grade dysplasia of pancreas |
|
MONDO:0021470 |
| MONDO:0975364 |
autosomal ichthyoses with fatal disease course |
icd11.foundation:856792458 |
MONDO:equivalentTo |
Autosomal ichthyoses with fatal disease course |
|
MONDO:0017263 |
| MONDO:0975365 |
hemangioblastic meningioma of unspecified site |
icd11.foundation:857214344 |
MONDO:equivalentTo |
Hemangioblastic meningioma of unspecified site |
|
MONDO:0016642 |
| MONDO:0975366 |
glycerol intolerance |
icd11.foundation:857912258 |
MONDO:equivalentTo |
Glycerol intolerance |
This is a simple intolerance polyol (sugar alcohol) compound. It is a colourless, odorless, viscous liquid that is widely used in pharmaceutical formulations. |
MONDO:0019227 |
| MONDO:0975367 |
renal mucormycosis |
icd11.foundation:857924207 |
MONDO:equivalentTo |
Renal mucormycosis |
A rare form of mucormycosis which may be mistaken for renal tuberculosis. It has been reported both in immunodeficient and in otherwise immunocompetent adults. It has also been transmitted via renal allograft. |
MONDO:0019136 |
| MONDO:0975368 |
juvenile systemic arthritis, ankle or foot |
icd11.foundation:857949986 |
MONDO:equivalentTo |
Juvenile systemic arthritis, ankle or foot |
|
MONDO:0019434 |
| MONDO:0975369 |
shy-drager syndrome |
icd11.foundation:859030797 |
MONDO:equivalentTo |
Shy-Drager syndrome |
Shy-Drager is a form of multiple system atrophy. Multiple system atrophy (MSA) is a sporadic, adult onset (mean age of onset 55-58 years) progressive (mean disease duration 7-9 years) neurodegenerative disease characterised by a variable combination of autonomic failure, parkinsonism and cerebellar signs. Neuropathological examination shows striatonigral, olivopontocerebellar and autonomic nuclei neuronal loss, gliosis, myelin pallor and axonal degeneration. |
MONDO:0007803 |
| MONDO:0975370 |
contaminated small bowel syndrome |
icd11.foundation:859173518 |
MONDO:equivalentTo |
Contaminated small bowel syndrome |
|
MONDO:0005673 |
| MONDO:0975371 |
adult-onset still disease, lower leg |
icd11.foundation:85933369 |
MONDO:equivalentTo |
Adult-onset Still disease, lower leg |
|
MONDO:0019355 |
| MONDO:0975372 |
gonococcal bursitis, forearm |
icd11.foundation:859611419 |
MONDO:equivalentTo |
Gonococcal bursitis, forearm |
|
MONDO:0001719 |
| MONDO:0975373 |
crusted scabies |
icd11.foundation:860564502 |
MONDO:equivalentTo |
Crusted scabies |
Crusted scabies results from unchecked proliferation of the human scabies mite in individuals who are unable to mount an adequate immune response to infestation. Extensive thick crusts containing vast numbers of mites form over the skin, particularly of the extremities. Because itching is usually absent, the diagnosis is frequently overlooked. Patients with crusted scabies may serve as the source for widespread outbreaks of scabies in institutions such as hospitals and care homes. |
MONDO:0004525 |
| MONDO:0975374 |
hydronephrosis with renal and ureteral calculous obstruction with infection |
icd11.foundation:860740244 |
MONDO:equivalentTo |
Hydronephrosis with renal and ureteral calculous obstruction with infection |
|
MONDO:0021750 |
| MONDO:0975375 |
secondary peritonitis |
icd11.foundation:860785256 |
MONDO:equivalentTo |
Secondary peritonitis |
Peritonitis with evident source of an infecting agent or due to other diseases. |
MONDO:0004522 |
| MONDO:0975376 |
acute ascending poliomyelitis |
icd11.foundation:860933427 |
MONDO:equivalentTo |
Acute ascending poliomyelitis |
|
MONDO:0017373 |
| MONDO:0975377 |
tuberculosis of spinal cord |
icd11.foundation:861141380 |
MONDO:equivalentTo |
Tuberculosis of spinal cord |
This is a common, and in many cases lethal, infectious disease caused by various strains of mycobacteria, usually Mycobacterium tuberculosis, of the spinal cord. |
MONDO:0005696 |
| MONDO:0975378 |
low pressure hydrocephaly |
icd11.foundation:861260599 |
MONDO:equivalentTo |
Low pressure hydrocephaly |
|
MONDO:0001150 |
| MONDO:0975379 |
dermoid tumour with malignant transformation of unspecified site |
icd11.foundation:861487501 |
MONDO:equivalentTo |
Dermoid tumour with malignant transformation of unspecified site |
|
MONDO:0008170 |
| MONDO:0975380 |
amnestic disorder due to diseases classified elsewhere |
icd11.foundation:862469859 |
MONDO:equivalentTo |
Amnestic disorder due to diseases classified elsewhere |
All definitional requirements for amnestic disorder are met. The memory symptoms are judged to be the direct pathophysiological consequence of a medical condition not classified under mental, behavioural and neurodevelopmental disorders, based on evidence from the history, physical examination, or laboratory findings. The symptoms are not better explained by Delirium, Dementia, another mental disorder (e.g., Schizophrenia or Other Primary Psychotic Disorder, a Mood Disorder) or the effects of a medication or substance, including withdrawal effects. The symptoms are sufficiently severe to be a specific focus of clinical attention. The identified etiological medical condition should be classified separately. |
MONDO:0001152 |
| MONDO:0975381 |
diminished ovarian reserve |
icd11.foundation:862567687 |
MONDO:equivalentTo |
Diminished ovarian reserve |
Condition characterised by ovaries with lower number of oocytes than expected for female chronologic age, marked by biochemical abnormalities (increased serum FSH levels, decreased serum AMH levels) and/or ultrasound findings (low antral follicle count) associated with ovarian ageing, reduced response to ovarian stimulation, and female infertility |
MONDO:0001889 |
| MONDO:0975382 |
malaria due to plasmodium malariae |
icd11.foundation:862789727 |
MONDO:equivalentTo |
Malaria due to Plasmodium malariae |
A disease caused by an infection with the protozoan parasite Plasmodium malariae. This disease is characterised by fever, chills, headache, nausea and vomiting, body aches, or general malaise. Transmission is through the bite of an infected mosquito. Confirmation is by identification of Plasmodium malariae in a blood sample. |
MONDO:0005136 |
| MONDO:0975383 |
4p duplication |
icd11.foundation:863100700 |
MONDO:equivalentTo |
4p duplication |
|
MONDO:0016941 |
| MONDO:0975384 |
distal duplications of the short arm of chromosome 3 |
icd11.foundation:864129625 |
MONDO:equivalentTo |
Distal duplications of the short arm of chromosome 3 |
|
MONDO:0016940 |
| MONDO:0975385 |
steatoma of eyelid |
icd11.foundation:864408435 |
MONDO:equivalentTo |
Steatoma of eyelid |
|
MONDO:0002137 |
| MONDO:0975386 |
proximal deletions of the short arm of chromosome 9 |
icd11.foundation:864431188 |
MONDO:equivalentTo |
Proximal deletions of the short arm of chromosome 9 |
|
MONDO:0016891 |
| MONDO:0975387 |
calcific tendinitis, lower leg |
icd11.foundation:86469716 |
MONDO:equivalentTo |
Calcific tendinitis, lower leg |
|
MONDO:0001903 |
| MONDO:0975388 |
awake bruxism |
icd11.foundation:865068190 |
MONDO:equivalentTo |
Awake bruxism |
|
MONDO:0002443 |
| MONDO:0975389 |
peripheral neuropathy, fiskerstrand type |
icd11.foundation:865501832 |
MONDO:equivalentTo |
Peripheral neuropathy, Fiskerstrand type |
Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. |
MONDO:0019589 |
| MONDO:0975390 |
chronic gastritis, not elsewhere classified |
icd11.foundation:865968881 |
MONDO:equivalentTo |
Chronic gastritis, not elsewhere classified |
Persistent or recurrent inflammation of the lamina propria, limited to the outer third of the mucosa in the foveolar area of unspecified origin. |
MONDO:0004966 |
| MONDO:0975391 |
typhogastric fever |
icd11.foundation:866256108 |
MONDO:equivalentTo |
Typhogastric fever |
|
MONDO:0005619 |
| MONDO:0975392 |
human-growth hormone injection-related creutzfeldt-jakob disease |
icd11.foundation:866329807 |
MONDO:equivalentTo |
Human-growth hormone injection-related Creutzfeldt-Jakob Disease |
Human growth hormone-related Creutzfeldt-Jakob Disease (CJD) is CJD in patients treated with human growth hormone derived from the pituitary glands in the brains of cadaveric donors. The clinical features include progressive cerebellar ataxia and a longer disease course than classical sCJD. After the prohibition of the cadaveric use for growth hormone, the occurrence of CJD in this manner has been drastically reduced. |
MONDO:0034976 |
| MONDO:0975393 |
carcinoma in situ of superior wall of nasopharynx |
icd11.foundation:866409974 |
MONDO:equivalentTo |
Carcinoma in situ of superior wall of nasopharynx |
|
MONDO:0021297 |
| MONDO:0975394 |
hereditary persistence of fetal haemoglobin, deletional |
icd11.foundation:866686372 |
MONDO:equivalentTo |
Hereditary persistence of fetal haemoglobin, deletional |
|
MONDO:0018749 |
| MONDO:0975395 |
limb-girdle muscular dystrophy 2e, beta-sarcoglycan deficiency |
icd11.foundation:867128398 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 2E, beta-sarcoglycan deficiency |
Autosomal recessive limb-girdle muscular dystrophy type 2E belongs to a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD 2E is transmitted as an autosomal recessive form and is characterised by scapular winging and calf hypertrophy. |
MONDO:0015152 |
| MONDO:0975396 |
acute obstructive appendicitis |
icd11.foundation:867263590 |
MONDO:equivalentTo |
Acute obstructive appendicitis |
|
MONDO:0005649 |
| MONDO:0975397 |
dilated pore naevus |
icd11.foundation:867264963 |
MONDO:equivalentTo |
Dilated pore naevus |
|
MONDO:0020979 |
| MONDO:0975398 |
caspase 8 defect (alps2b) |
icd11.foundation:867549613 |
MONDO:equivalentTo |
Caspase 8 defect (ALPS2b) |
|
MONDO:0017979 |
| MONDO:0975399 |
acute kidney failure, stage 2 |
icd11.foundation:868648627 |
MONDO:equivalentTo |
Acute kidney failure, stage 2 |
Rate of change of serum creatinine: 2.0-2.9 times baseline OR Magnitude of urine output: <0.5 ml/kg/h for >= 12 hours |
MONDO:0002492 |
| MONDO:0975400 |
neuromyelitis optica aquaporin-4 antibody negative |
icd11.foundation:869136080 |
MONDO:equivalentTo |
Neuromyelitis optica aquaporin-4 antibody negative |
Neuromyelitis optica (NMO) is an inflammatory demyelinating disease of the central nervous system characterised mainly by attacks of uni- or bilateral optic neuritis (ON) and acute longitudinally extensive (> 3 vertebral segments) myelitis. This form is seronegative for aquaporin-4 antibodies. |
MONDO:0019100 |
|
|
|
|
|
Some patients may be myelin oligodendrocyte glycoprotein (MOG) antibody positive. |
|
| MONDO:0975401 |
rubella with neurological complications |
icd11.foundation:869374630 |
MONDO:equivalentTo |
Rubella with neurological complications |
#DRAFT# This is the pathogenic agent of the disease Rubella, and is the cause of congenital rubella syndrome when infection occurs during the first weeks of pregnancy. This diagnosis is with neurological complications. |
MONDO:0004656 |
| MONDO:0975402 |
squamous cell carcinomas of middle third of oesophagus |
icd11.foundation:869404833 |
MONDO:equivalentTo |
Squamous cell carcinomas of middle third of oesophagus |
|
MONDO:0005580 |
| MONDO:0975403 |
angioblastic meningioma of unspecified site |
icd11.foundation:869578742 |
MONDO:equivalentTo |
Angioblastic meningioma of unspecified site |
|
MONDO:0016642 |
| MONDO:0975404 |
proliferative diabetic retinopathy with vitreous haemorrhage |
icd11.foundation:869703154 |
MONDO:equivalentTo |
Proliferative diabetic retinopathy with vitreous haemorrhage |
This is proliferative retinopathy (damage to the retina) caused by complications of diabetes, which can eventually lead to blindness. It is an ocular manifestation of diabetes, a systemic disease, which affects up to 80 percent of all patients who have had diabetes for 10 years or more. This diagnosis is with the extravasation, or leakage, of blood into the areas in and around the vitreous humour of the eye. The vitreous humour is the clear gel that fills the space between the lens and the retina of the eye. A variety of conditions can result in blood leaking into the vitreous humour, which can cause impaired vision, floaters, and photopsia. |
MONDO:0001660 |
| MONDO:0975405 |
localised spinal muscular atrophy |
icd11.foundation:870128735 |
MONDO:equivalentTo |
Localised spinal muscular atrophy |
This category comprises a group of disorders with a varied pattern of weakness and autosomal dominant or X-linked recessive inheritance with specific genetic profiles. |
MONDO:0001516 |
| MONDO:0975406 |
complete trisomy 21, translocation |
icd11.foundation:870294208 |
MONDO:equivalentTo |
Complete trisomy 21, translocation |
|
MONDO:0008608 |
| MONDO:0975407 |
hypoxic ischaemic encephalopathy of newborn, moderate |
icd11.foundation:870467508 |
MONDO:equivalentTo |
Hypoxic ischaemic encephalopathy of newborn, moderate |
A paediatric condition characterised as being when the brain fails to receive a sufficient amount of oxygen or blood before and during birth with effects including decreased mental capacity, decreased muscle tone, decreased spontaneous movements, and the potential for seizures. |
MONDO:0006663 |
| MONDO:0975408 |
benign cerebral neoplasm |
icd11.foundation:87147373 |
MONDO:equivalentTo |
Benign cerebral neoplasm |
|
MONDO:0021497 |
| MONDO:0975409 |
meningitis due to toxocara |
icd11.foundation:871514931 |
MONDO:equivalentTo |
Meningitis due to Toxocara |
|
MONDO:0005988 |
| MONDO:0975410 |
immunodeficiency with natural-killer cell deficiency |
icd11.foundation:872351944 |
MONDO:equivalentTo |
Immunodeficiency with natural-killer cell deficiency |
|
MONDO:0015135 |
| MONDO:0975411 |
hereditary vascular retinopathy |
icd11.foundation:872601629 |
MONDO:equivalentTo |
Hereditary vascular retinopathy |
Hereditary vascular retinopathy (HVR) is a retinal vascular disease characterised by retinal microangiopathy, retinal haemorrhages, central and peripheral vascular occlusions and telangiectatic capillaries, and is often associated with migraine and/or Raynaud's phenomenon. |
MONDO:0008641 |
| MONDO:0975412 |
circinate balanitis |
icd11.foundation:873736219 |
MONDO:equivalentTo |
Circinate balanitis |
Circinate balanitis is strongly associated with HLA-B27 and reactive arthropathies, in particular that associated with chlamydial urethritis in men (Reiter syndrome). It is readily recognised by the presence of annular and serpiginous scaly plaques on the glans penis. These show parakeratosis and intraepithelial spongiform neutrophilic pustules on histopathological examination. |
MONDO:0001618 |
| MONDO:0975413 |
thalassaemic alpha-chain variants |
icd11.foundation:874048664 |
MONDO:equivalentTo |
Thalassaemic alpha-chain variants |
|
MONDO:0011399 |
| MONDO:0975414 |
chondromalacia, neck |
icd11.foundation:874564051 |
MONDO:equivalentTo |
Chondromalacia, neck |
|
MONDO:0002342 |
| MONDO:0975415 |
arthrogryposis-like hand anomaly - sensorineural deafness |
icd11.foundation:875196 |
MONDO:equivalentTo |
Arthrogryposis-like hand anomaly - sensorineural deafness |
Distal arthrogryposis type 6 is characterised by an arthrogryposis-like hand anomaly and sensorineural deafness. |
MONDO:0019589 |
| MONDO:0975416 |
erythema annulare centrifugum |
icd11.foundation:875793399 |
MONDO:equivalentTo |
Erythema annulare centrifugum |
Erythema annulare centrifugum is the prototypic "annular erythema". Although it has several characteristic clinical features, it is a diagnosis of exclusion and must be distinguished from the many other specific causes of annular erythema including lupus tumidus, Lyme disease and leprosy. It is characterised by the development of small numbers of pink infiltrated papules which very gradually enlarge whilst fading centrally to form ring-shaped elevated plaques. It most commonly affects the thighs, buttocks or upper arms. |
MONDO:0007128 |
| MONDO:0975417 |
otosclerosis involving oval window, nonobliterative |
icd11.foundation:876294903 |
MONDO:equivalentTo |
Otosclerosis involving oval window, nonobliterative |
|
MONDO:0005349 |
| MONDO:0975418 |
b lymphoblastic leukaemia or lymphoma with t(1;19)(q23;p13.3); (e2a-pbx1; tcf3/pbx1) |
icd11.foundation:877168682 |
MONDO:equivalentTo |
B lymphoblastic leukaemia or lymphoma with t(1;19)(Q23;P13.3); (E2A-PBX1; TCF3/PBX1) |
A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. |
MONDO:0020511 |
| MONDO:0975419 |
immunodeficiency with properdin deficiency |
icd11.foundation:877208883 |
MONDO:equivalentTo |
Immunodeficiency with properdin deficiency |
This is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent, with properdin deficiency. |
MONDO:0015136 |
| MONDO:0975420 |
non-erosive adult-onset still disease |
icd11.foundation:878242262 |
MONDO:equivalentTo |
Non-erosive Adult-onset Still disease |
|
MONDO:0019355 |
| MONDO:0975421 |
irritant balanoposthitis |
icd11.foundation:878417869 |
MONDO:equivalentTo |
Irritant balanoposthitis |
|
MONDO:0001618 |
| MONDO:0975422 |
juvenile systemic arthritis, forearm |
icd11.foundation:878740555 |
MONDO:equivalentTo |
Juvenile systemic arthritis, forearm |
|
MONDO:0019434 |
| MONDO:0975423 |
congenital obstruction of bladder neck |
icd11.foundation:87874583 |
MONDO:equivalentTo |
Congenital obstruction of bladder neck |
|
MONDO:0018559 |
| MONDO:0975424 |
toxocariasis due to toxocara canis |
icd11.foundation:879160569 |
MONDO:equivalentTo |
Toxocariasis due to Toxocara canis |
A condition caused by an infection with the parasitic worm Toxocara canis. This condition presents with symptoms depending on the site of infection. This condition may also be asymptomatic. Transmission is by the faecal-oral route through the ingestion of food, water, or soil that contains Toxocara canis eggs (contaminated by faeces from an infected dog). Confirmation is by detection of antibodies against Toxocara canis in a blood sample or identification of Toxocara canis eggs in a faecal sample. |
MONDO:0005988 |
| MONDO:0975425 |
leukorrhoea |
icd11.foundation:879327727 |
MONDO:equivalentTo |
Leukorrhoea |
|
MONDO:0002770 |
| MONDO:0975426 |
chronic maxillary sinus empyema |
icd11.foundation:880318551 |
MONDO:equivalentTo |
Chronic maxillary sinus empyema |
|
MONDO:0001122 |
| MONDO:0975427 |
gonococcal bursitis, ankle or foot |
icd11.foundation:880763504 |
MONDO:equivalentTo |
Gonococcal bursitis, ankle or foot |
|
MONDO:0001719 |
| MONDO:0975428 |
radiculopathy due to toxicity |
icd11.foundation:880852176 |
MONDO:equivalentTo |
Radiculopathy due to toxicity |
|
MONDO:0002959 |
| MONDO:0975429 |
erythrophobia |
icd11.foundation:881932397 |
MONDO:equivalentTo |
Erythrophobia |
|
MONDO:0012000 |
| MONDO:0975430 |
nicotine dependence, early full remission |
icd11.foundation:88210793 |
MONDO:equivalentTo |
Nicotine dependence, early full remission |
After a diagnosis of nicotine dependence, and often following a treatment episode or other intervention (including self-help intervention), the individual has been abstinent from nicotine during a period lasting between 1 and 12 months. |
MONDO:0008575 |
| MONDO:0975431 |
massive pubertal hypertrophy of breast |
icd11.foundation:88212902 |
MONDO:equivalentTo |
Massive pubertal hypertrophy of breast |
|
MONDO:0001100 |
| MONDO:0975432 |
cystoisosporiasis of colon |
icd11.foundation:883510242 |
MONDO:equivalentTo |
Cystoisosporiasis of colon |
Isosporiasis of colon is a large intestinal inflammation caused by the protozoan Isospora belli. |
MONDO:0018769 |
| MONDO:0975433 |
chronic frontal sinus empyema |
icd11.foundation:884220457 |
MONDO:equivalentTo |
Chronic frontal sinus empyema |
|
MONDO:0001120 |
| MONDO:0975434 |
classical mantle cell lymphoma |
icd11.foundation:884742888 |
MONDO:equivalentTo |
Classical mantle cell lymphoma |
|
MONDO:0018876 |
| MONDO:0975435 |
erythrokeratodermia variabilis et progressiva |
icd11.foundation:886266813 |
MONDO:equivalentTo |
Erythrokeratodermia variabilis et progressiva |
Mendes da Costa type erythrokeratodermia variabilis (EKV) is a genodermatosis characterised by the appearance of two independent skin lesions: transient figurate erythematous patches and hyperkeratosis that is usually localised but occasionally occurs in its generalised form, generally during the first year of life. |
MONDO:0017262 |
| MONDO:0975436 |
acute gastritis, not elsewhere classified |
icd11.foundation:886989212 |
MONDO:equivalentTo |
Acute gastritis, not elsewhere classified |
Rapid onset inflammation of the mucosal lining of the stomach due to cause not otherwise coded |
MONDO:0004966 |
| MONDO:0975437 |
alps-casp10 (alps2a) |
icd11.foundation:888560997 |
MONDO:equivalentTo |
ALPS-CASP10 (ALPS2a) |
|
MONDO:0017979 |
| MONDO:0975438 |
circumscribed lymphatic malformation |
icd11.foundation:88890474 |
MONDO:equivalentTo |
Circumscribed lymphatic malformation |
|
MONDO:0019328 |
| MONDO:0975439 |
solitary plasmacytoma in complete remission |
icd11.foundation:888975405 |
MONDO:equivalentTo |
Solitary plasmacytoma in complete remission |
|
MONDO:0005615 |
| MONDO:0975440 |
monocular exotropia with other noncomitancies |
icd11.foundation:88906695 |
MONDO:equivalentTo |
Monocular exotropia with other noncomitancies |
Monocular exotropia with other noncomitancies is an abnormal binocular alignment in which one of the eyes has an outward deviation. The additional descriptive feature of noncomitancies is specified in which the size of the outward misalignment varies depending on the direction of gaze. |
MONDO:0001286 |
| MONDO:0975441 |
allergic contact dermatitis organised by allergen class |
icd11.foundation:889309257 |
MONDO:equivalentTo |
Allergic contact dermatitis organised by allergen class |
Allergic contact dermatitis organised by class of causative allergen. |
MONDO:0006525 |
| MONDO:0975442 |
nasal diphtheria |
icd11.foundation:889546481 |
MONDO:equivalentTo |
Nasal diphtheria |
|
MONDO:0005504 |
| MONDO:0975443 |
measles with intestinal complications |
icd11.foundation:890632691 |
MONDO:equivalentTo |
Measles with intestinal complications |
A disease caused by an infection with Morbillivirus, which is complicated by an infection in the intestinal tract. This disease commonly presents with symptoms of measles and diarrhoea. This disease may also present with appendicitis. Transmission is by inhalation of infected respiratory secretions, airborne transmission, or direct contact. Confirmation is by detection of Morbillivirus RNA or measles-specific IgM antibodies. |
MONDO:0004619 |
| MONDO:0975444 |
osteonecrosis due to dialysis |
icd11.foundation:890685844 |
MONDO:equivalentTo |
Osteonecrosis due to dialysis |
|
MONDO:0005380 |
| MONDO:0975445 |
juvenile systemic onset arthritis complicated by macrophage activation syndrome |
icd11.foundation:890829666 |
MONDO:equivalentTo |
Juvenile systemic onset arthritis complicated by macrophage activation syndrome |
|
MONDO:0019434 |
| MONDO:0975446 |
postcapillary pulmonary hypertension |
icd11.foundation:891263652 |
MONDO:equivalentTo |
Postcapillary pulmonary hypertension |
This is an increase of blood pressure in the pulmonary artery, pulmonary vein, and pulmonary capillaries, This is also defined as mean pulmonary arterial pressure (mPAP) >25 mmHg and mean pulmonary capillary wedge pressure (mPCWP) <15 mmHg at rest as assessed by right heart catheterization. |
MONDO:0005149 |
| MONDO:0975447 |
acute drug-induced pancreatitis |
icd11.foundation:891367271 |
MONDO:equivalentTo |
Acute drug-induced pancreatitis |
Acute pancreatitis caused by drug administration. Some diuretics, anti-tumour or antibiotic drugs, estrogen-containing contraceptives, azathioprine and others have been reported to induce acute pancreatitis. |
MONDO:0006515 |
| MONDO:0975448 |
monostotic fibrous dysplasia, pelvic region or thigh |
icd11.foundation:891435434 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, pelvic region or thigh |
|
MONDO:0019665 |
| MONDO:0975449 |
osteoarthritis without determinants |
icd11.foundation:891861741 |
MONDO:equivalentTo |
Osteoarthritis without determinants |
|
MONDO:0005178 |
| MONDO:0975450 |
coloboma of choroid or retina, unilateral |
icd11.foundation:893019997 |
MONDO:equivalentTo |
Coloboma of choroid or retina, unilateral |
|
MONDO:0020354 |
| MONDO:0975451 |
accessory vocal cords |
icd11.foundation:893147829 |
MONDO:equivalentTo |
Accessory vocal cords |
|
MONDO:0015504 |
| MONDO:0975452 |
fibrosing mediastinitis in association with systemic autoimmune disease |
icd11.foundation:893881238 |
MONDO:equivalentTo |
Fibrosing mediastinitis in association with systemic autoimmune disease |
|
MONDO:0018978 |
| MONDO:0975453 |
intermittent hydrarthrosis, shoulder region |
icd11.foundation:893938169 |
MONDO:equivalentTo |
Intermittent hydrarthrosis, shoulder region |
|
MONDO:0018015 |
| MONDO:0975454 |
monostotic fibrous dysplasia, ribs |
icd11.foundation:894019875 |
MONDO:equivalentTo |
Monostotic fibrous dysplasia, ribs |
|
MONDO:0019665 |
| MONDO:0975455 |
cholangiohepatoma |
icd11.foundation:894488488 |
MONDO:equivalentTo |
Cholangiohepatoma |
|
MONDO:0007256 |
| MONDO:0975456 |
harlequin ichthyosis |
icd11.foundation:895541233 |
MONDO:equivalentTo |
Harlequin ichthyosis |
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; ). It is characterised at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. |
MONDO:0017265 |
| MONDO:0975457 |
secondary hypertension associated with congenital heart disorders |
icd11.foundation:895950544 |
MONDO:equivalentTo |
Secondary hypertension associated with congenital heart disorders |
|
MONDO:0001200 |
| MONDO:0975458 |
short rib-polydactyly syndrome, beemer-langer type |
icd11.foundation:896003600 |
MONDO:equivalentTo |
Short rib-polydactyly syndrome, Beemer-Langer type |
|
MONDO:0015461 |
| MONDO:0975459 |
dilated cardiomyopathy due to congenital heart disease |
icd11.foundation:8965736 |
MONDO:equivalentTo |
Dilated cardiomyopathy due to congenital heart disease |
Dilated cardiomyopathy due to congenital heart disease is ventricular dilation and dysfunction consequent to congenital heart disease-related haemodynamic overload that exceeds the severity expected for the severity of hemodynamic abnormality. Congenital heart malformations most associated with a dilated cardiomyopathy are those with a failed functionally single-ventricle circulation, such as hypoplastic left heart syndrome. |
MONDO:0016338 |
| MONDO:0975460 |
classic apraxia |
icd11.foundation:896649345 |
MONDO:equivalentTo |
Classic apraxia |
|
MONDO:0000665 |
| MONDO:0975461 |
erysipelas of face |
icd11.foundation:896866865 |
MONDO:equivalentTo |
Erysipelas of face |
|
MONDO:0001266 |
| MONDO:0975462 |
calculus of gallbladder or cystic duct with cholangitis |
icd11.foundation:897124085 |
MONDO:equivalentTo |
Calculus of gallbladder or cystic duct with cholangitis |
|
MONDO:0012672 |
| MONDO:0975463 |
bromidrosiphobia |
icd11.foundation:898022927 |
MONDO:equivalentTo |
Bromidrosiphobia |
|
MONDO:0012000 |
| MONDO:0975464 |
radiculopathy, thoracolumbar region |
icd11.foundation:898723039 |
MONDO:equivalentTo |
Radiculopathy, thoracolumbar region |
|
MONDO:0002959 |
| MONDO:0975465 |
osteoporosis, head |
icd11.foundation:899394695 |
MONDO:equivalentTo |
Osteoporosis, head |
|
MONDO:0005298 |
| MONDO:0975466 |
hamartoma of retina or retinal pigment epithelium |
icd11.foundation:900040783 |
MONDO:equivalentTo |
Hamartoma of retina or retinal pigment epithelium |
|
MONDO:0021453 |
| MONDO:0975467 |
long qt syndrome, type 11 |
icd11.foundation:900609298 |
MONDO:equivalentTo |
Long QT syndrome, type 11 |
Genetically proven Long QT syndrome type 11 (AKAP9), with or without clinical manifestations. |
MONDO:0019171 |
| MONDO:0975468 |
amelogenesis imperfecta - nephrocalcinosis |
icd11.foundation:901063273 |
MONDO:equivalentTo |
Amelogenesis imperfecta - nephrocalcinosis |
This presents with abnormal formation of the enamel or external layer of teeth, used to describe diffuse, fine, renal parenchymal calcification on radiology. |
MONDO:0019507 |
| MONDO:0975469 |
monomac syndrome |
icd11.foundation:901296412 |
MONDO:equivalentTo |
MonoMAC syndrome |
|
MONDO:0013607 |
| MONDO:0975470 |
sinusoidal obstruction syndrome |
icd11.foundation:901464792 |
MONDO:equivalentTo |
Sinusoidal obstruction syndrome |
|
MONDO:0019514 |
| MONDO:0975471 |
basaloid carcinoma of hypopharynx |
icd11.foundation:901583828 |
MONDO:equivalentTo |
Basaloid carcinoma of hypopharynx |
|
MONDO:0044638 |
| MONDO:0975472 |
carcinoma in situ of lateral wall of oropharynx |
icd11.foundation:902416526 |
MONDO:equivalentTo |
Carcinoma in situ of lateral wall of oropharynx |
|
MONDO:0021298 |
| MONDO:0975473 |
congenital fibrosis of extraocular muscles 3c |
icd11.foundation:902579785 |
MONDO:equivalentTo |
Congenital fibrosis of extraocular muscles 3C |
|
MONDO:0007614 |
| MONDO:0975474 |
male with double or multiple y |
icd11.foundation:902599592 |
MONDO:equivalentTo |
Male with double or multiple Y |
A condition affecting males, caused by the presence of supernumerary Y chromosomes. This condition is asymptomatic. Confirmation is through observation of supernumerary Y chromosomes by karyotyping. |
MONDO:0017005 |
| MONDO:0975475 |
subacute lichen planus |
icd11.foundation:902772141 |
MONDO:equivalentTo |
Subacute lichen planus |
The commonest form of lichen planus affecting the skin. It may be limited to a few papules or plaques but may be widespread. It may continue to extend over months and may remain active over several years. |
MONDO:0006572 |
| MONDO:0975476 |
minimally differentiated acute myeloblastic leukaemia |
icd11.foundation:903538993 |
MONDO:equivalentTo |
Minimally differentiated acute myeloblastic leukaemia |
|
MONDO:0005223 |
| MONDO:0975477 |
tuberculous duodenitis |
icd11.foundation:905049915 |
MONDO:equivalentTo |
Tuberculous duodenitis |
Duodenitis caused by infection with Mycobacterium tuberculosis. |
MONDO:0957466 |
| MONDO:0975478 |
familial pseudohyperkalaemia type 2 |
icd11.foundation:906059218 |
MONDO:equivalentTo |
Familial pseudohyperkalaemia type 2 |
|
MONDO:0012204 |
| MONDO:0975479 |
infantile alpha-mannosidosis |
icd11.foundation:906517648 |
MONDO:equivalentTo |
Infantile alpha-mannosidosis |
|
MONDO:0009561 |
| MONDO:0975480 |
proximal duplications of the long arm of chromosome 17 |
icd11.foundation:907897693 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 17 |
|
MONDO:0016967 |
| MONDO:0975481 |
male infertility in unspecified cystic fibrosis |
icd11.foundation:908139726 |
MONDO:equivalentTo |
Male infertility in unspecified cystic fibrosis |
|
MONDO:0009061 |
| MONDO:0975482 |
rathke cleft cyst |
icd11.foundation:908483645 |
MONDO:equivalentTo |
Rathke cleft cyst |
|
MONDO:0015127 |
| MONDO:0975483 |
left sided ulcerative colitis |
icd11.foundation:908519836 |
MONDO:equivalentTo |
Left sided ulcerative colitis |
|
MONDO:0005101 |
| MONDO:0975484 |
granulomatous rosacea |
icd11.foundation:90880480 |
MONDO:equivalentTo |
Granulomatous rosacea |
Granulomatous rosacea is an uncommon and distinctive condition which is accepted as a variant of rosacea. It is characterised by chronic flesh-coloured, reddish-yellow or yellow-brown papules particularly affecting the skin around the eyes, nose and mouth. Lesions may appear singly or in profusion. The intervening skin is usually normal. Diascopy reveals the granulomatous nature of the papules and histology may show either caseating or non-caseating epithelioid-cell granulomas. It has been suggested that it is a granulomatous reaction to ruptured hair follicles. Individual papules may last for several years but may then regress spontaneously or heal with disfiguring scars. |
MONDO:0006604 |
| MONDO:0975485 |
meningitis due to actinomycetales |
icd11.foundation:908937367 |
MONDO:equivalentTo |
Meningitis due to Actinomycetales |
|
MONDO:0006670 |
| MONDO:0975486 |
corpus callosum agenesis cataract immunodeficiency |
icd11.foundation:908973419 |
MONDO:equivalentTo |
Corpus callosum agenesis cataract immunodeficiency |
Vici syndrome is characterised by the combination of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract and combined immunodeficiency. |
MONDO:0015131 |
| MONDO:0975487 |
ideokinetic apraxia |
icd11.foundation:90923493 |
MONDO:equivalentTo |
Ideokinetic apraxia |
|
MONDO:0000665 |
| MONDO:0975488 |
autoimmune optic neuropathy |
icd11.foundation:909369967 |
MONDO:equivalentTo |
Autoimmune optic neuropathy |
This refers to autoimmune damage to the optic nerve due to any cause. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. |
MONDO:0005885 |
| MONDO:0975489 |
cocaine dependence, sustained full remission |
icd11.foundation:909638838 |
MONDO:equivalentTo |
Cocaine dependence, sustained full remission |
After a diagnosis of cocaine dependence, and often following a treatment episode or other intervention (including self-intervention), the person has been abstinent from cocaine for 12 months or longer. |
MONDO:0005186 |
| MONDO:0975490 |
multifocal motor neuropathy with persistent conduction block |
icd11.foundation:9104732 |
MONDO:equivalentTo |
Multifocal motor neuropathy with persistent conduction block |
Multifocal motor neuropathy with persistent conduction blocks is a dysimmune neuropathy characterised by pure, asymmetrical and multifocal motor deficiency, which begins in and predominantly affects the upper limbs, and follows a chronic evolution. |
MONDO:0006702 |
| MONDO:0975491 |
juvenile dermatomyositis with overlap to nonorgan specific systemic autoimmune disorders |
icd11.foundation:911145504 |
MONDO:equivalentTo |
Juvenile dermatomyositis with overlap to nonorgan specific systemic autoimmune disorders |
Juvenile dermatomyositis with overlap to non-organ specific systemic autoimmune disorders is an early-onset systemic inflammatory disorders affecting the skeletal muscles, the skin, and other organs, associated with other autoimmune or connective tissue diseases. Juvenile dermatomyositis is most frequently associated with systemic sclerosis and mixed connective tissue disease. |
MONDO:0008054 |
| MONDO:0975492 |
fibrodysplasia ossificans progressiva, pelvic region or thigh |
icd11.foundation:911382460 |
MONDO:equivalentTo |
Fibrodysplasia ossificans progressiva, pelvic region or thigh |
|
MONDO:0007606 |
| MONDO:0975493 |
glycinuria |
icd11.foundation:911493605 |
MONDO:equivalentTo |
Glycinuria |
|
MONDO:0019216 |
| MONDO:0975494 |
atopic prurigo |
icd11.foundation:911623253 |
MONDO:equivalentTo |
Atopic prurigo |
A clinical variant of atopic eczema characterised by multiple discrete itchy, often excoriated papules, particularly on the limbs. |
MONDO:0021739 |
| MONDO:0975495 |
cannabis dependence, early full remission |
icd11.foundation:911861819 |
MONDO:equivalentTo |
Cannabis dependence, early full remission |
After a diagnosis of cannabis dependence, and often following a treatment episode or other intervention (including self-help intervention), the individual has been abstinent from cannabis during a period lasting between 1 and 12 months. |
MONDO:0005689 |
| MONDO:0975496 |
acute congestive lung |
icd11.foundation:912000451 |
MONDO:equivalentTo |
Acute congestive lung |
|
MONDO:0005249 |
| MONDO:0975497 |
hypospadias, penoscrotal |
icd11.foundation:912726286 |
MONDO:equivalentTo |
Hypospadias, penoscrotal |
A condition of the urethra affecting males, caused by determinants arising during the antenatal period. This condition is characterised by a malformation of the urethra and the ventral side of the penis, leading to an abnormally placed urinary meatus that opens where the shaft of the penis meets the scrotum. This condition may also present with an incomplete foreskin that forms a hood. |
MONDO:0005345 |
| MONDO:0975498 |
osteoporosis, skull |
icd11.foundation:913439560 |
MONDO:equivalentTo |
Osteoporosis, skull |
|
MONDO:0005298 |
| MONDO:0975499 |
chronic tuberculous polyserositis |
icd11.foundation:913646589 |
MONDO:equivalentTo |
Chronic tuberculous polyserositis |
|
MONDO:0005848 |
| MONDO:0975500 |
adult linear iga bullous dermatosis |
icd11.foundation:913864335 |
MONDO:equivalentTo |
Adult linear IgA bullous dermatosis |
Adult linearIgAbullousdermatosis is an autoimmune skin disease characterised by blisters on the skin and mucous membranes. The exact causes of the disease are unknown but the disease is mediated by IgA autoantibodies to hemidesmosome and basement membrane components BP180 and its shed ectodomain, BP230 and LAD285. The disease affects adults of all ages including young adults but is most common in old age. Those rare patients with very prominent mucosal involvement with scarring are now classified as mucous membrane pemphigoid. |
MONDO:0018748 |
| MONDO:0975501 |
age-related reticular degeneration of retina |
icd11.foundation:91425427 |
MONDO:equivalentTo |
Age-related reticular degeneration of retina |
|
MONDO:0001451 |
| MONDO:0975502 |
neurofibroma of choroid |
icd11.foundation:914611612 |
MONDO:equivalentTo |
Neurofibroma of choroid |
|
MONDO:0021487 |
| MONDO:0975503 |
acute hepatorenal encephalopathy |
icd11.foundation:914934286 |
MONDO:equivalentTo |
Acute hepatorenal encephalopathy |
|
MONDO:0001711 |
| MONDO:0975504 |
osteonecrosis due to trauma, upper arm |
icd11.foundation:915243922 |
MONDO:equivalentTo |
Osteonecrosis due to trauma, upper arm |
|
MONDO:0018375 |
| MONDO:0975505 |
lattice corneal dystrophy type 1 |
icd11.foundation:915460021 |
MONDO:equivalentTo |
Lattice corneal dystrophy type 1 |
Type 1 lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterised by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations. |
MONDO:0004686 |
| MONDO:0975506 |
spinal stenosis with no determinant |
icd11.foundation:915522706 |
MONDO:equivalentTo |
Spinal stenosis with no determinant |
|
MONDO:0005965 |
| MONDO:0975507 |
communicating hydrocephalus due to certain specified causes |
icd11.foundation:916379943 |
MONDO:equivalentTo |
Communicating hydrocephalus due to certain specified causes |
Hydrocephalus is a rare event of nonsyndromic craniosynostosis and infrequently occurs in cases of single suture synostosis. In contrast, hydrocephalus is a frequent finding of syndromic craniostenosis, especially of Crouzon's and Apert's syndromes. Jugular foramen stenosis and crowding of the posterior fossa are probably the two main factors responsible for the hydrocephalus. |
MONDO:0002045 |
| MONDO:0975508 |
low anorectal malformation without fistula |
icd11.foundation:916419327 |
MONDO:equivalentTo |
Low anorectal malformation without fistula |
This is a type of anorectal malformations. This is a low lesion, in which cul-de-sac below the level of the pubococcygeal line. There is a complete covered anus or membranous anus without fistula. |
MONDO:0015733 |
| MONDO:0975509 |
chronic myelomonocytic leukaemia type 2 |
icd11.foundation:917064474 |
MONDO:equivalentTo |
Chronic myelomonocytic leukaemia Type 2 |
|
MONDO:0020311 |
| MONDO:0975510 |
actinomyces canaliculitis |
icd11.foundation:917768288 |
MONDO:equivalentTo |
Actinomyces canaliculitis |
|
MONDO:0005631 |
| MONDO:0975511 |
juvenile enthesitis related arthritis, ana positive |
icd11.foundation:918088103 |
MONDO:equivalentTo |
Juvenile enthesitis related arthritis, ANA positive |
|
MONDO:0019437 |
| MONDO:0975512 |
double pneumonia |
icd11.foundation:918578739 |
MONDO:equivalentTo |
Double pneumonia |
|
MONDO:0005249 |
| MONDO:0975513 |
lower limb hypertrophy, bilateral |
icd11.foundation:918761845 |
MONDO:equivalentTo |
Lower limb hypertrophy, bilateral |
|
MONDO:0017477 |
| MONDO:0975514 |
type ii simple diverticula of the common bile duct |
icd11.foundation:91891074 |
MONDO:equivalentTo |
Type II Simple diverticula of the common bile duct |
|
MONDO:0018805 |
| MONDO:0975515 |
eating epilepsy |
icd11.foundation:91977543 |
MONDO:equivalentTo |
Eating epilepsy |
A reflex epilepsy with seizures induced by complex stimuli represented by the complete sequence of having a meal. Seizures are focal (with impaired awareness) and occasionally become bilaterally tonic-clonic. |
MONDO:0017768 |
| MONDO:0975516 |
autosomal recessive acrofacial dysostosis |
icd11.foundation:921104481 |
MONDO:equivalentTo |
Autosomal recessive acrofacial dysostosis |
Autosomal recessive acrofacial dysostosis is a form of acrofacial dysostosis characterised by the presence of the following clinical manifestations: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, great toes, and developmental delay. |
MONDO:0018237 |
| MONDO:0975517 |
acute haemorrhagic pancreas necrosis |
icd11.foundation:922082666 |
MONDO:equivalentTo |
Acute haemorrhagic pancreas necrosis |
|
MONDO:0006515 |
| MONDO:0975518 |
severe infantile myotubular myopathy |
icd11.foundation:922147818 |
MONDO:equivalentTo |
Severe infantile myotubular myopathy |
X-linked myotubular myopathy is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. |
MONDO:0018947 |
| MONDO:0975519 |
denticles |
icd11.foundation:922583420 |
MONDO:equivalentTo |
Denticles |
|
MONDO:0001216 |
| MONDO:0975520 |
obstructive azoospermia |
icd11.foundation:923050102 |
MONDO:equivalentTo |
Obstructive azoospermia |
Lack of spermatozoa in the semen as a consequence of obstruction of the epididymis, the deferent ducts, or the ejaculatory ducts. |
MONDO:0100459 |
| MONDO:0975521 |
other arteritic anterior ischemic optic neuropathy |
icd11.foundation:923858912 |
MONDO:equivalentTo |
Other arteritic anterior ischemic optic neuropathy |
|
MONDO:0000498 |
| MONDO:0975522 |
calculus of bile duct without cholangitis or cholecystitis |
icd11.foundation:92432538 |
MONDO:equivalentTo |
Calculus of bile duct without cholangitis or cholecystitis |
Stones in bile duct present without inflammation of gallbladder wall and bile duct. |
MONDO:0012672 |
| MONDO:0975523 |
ventricular septal defect haemodynamically insignificant |
icd11.foundation:924554858 |
MONDO:equivalentTo |
Ventricular septal defect haemodynamically insignificant |
A congenital cardiac malformation in which there is one or more small, clinically insignificant ventricular septal defect(s) in the absence of flow-related cardiac chamber dilation or abnormal elevation of pulmonary arterial pressure. |
MONDO:0002070 |
|
|
|
|
|
|
|
|
|
|
|
|
Additional information: though restrictive ventricular septal defect is listed as a synonym of haemodynamically insignificant VSD, it should be recognised that some pressure restrictive ventricular septal defects will lead to flow-related chamber dilation, and thus would be haemodynamically significant. In such instances, the term haemodynamically insignificant ventricular septal defect should not be coded. |
|
| MONDO:0975524 |
infantile genetic agranulocytosis |
icd11.foundation:926240117 |
MONDO:equivalentTo |
Infantile genetic agranulocytosis |
|
MONDO:0015134 |
| MONDO:0975525 |
renal tubular acidosis due to familial or genetic disorders |
icd11.foundation:926270304 |
MONDO:equivalentTo |
Renal tubular acidosis due to familial or genetic disorders |
|
MONDO:0001909 |
| MONDO:0975526 |
xeroderma pigmentosum d |
icd11.foundation:926388816 |
MONDO:equivalentTo |
Xeroderma pigmentosum D |
Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers, and is a clinically heterogeneous form that shows typical XP manifestations (photosensitivity of skin with burning, freckling, and dryness of skin, skin cancers) associated with a spectrum of neurological anomalies (from no abnormality to severe neurological disease). |
MONDO:0019600 |
| MONDO:0975527 |
distal duplications of the long arm of chromosome 7 |
icd11.foundation:926446225 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 7 |
|
MONDO:0016958 |
| MONDO:0975528 |
hypertrichotic osteochondrodysplasia |
icd11.foundation:926534390 |
MONDO:equivalentTo |
Hypertrichotic osteochondrodysplasia |
|
MONDO:0019716 |
| MONDO:0975529 |
abdominal aortic aneurysm with rupture |
icd11.foundation:926729140 |
MONDO:equivalentTo |
Abdominal aortic aneurysm with rupture |
|
MONDO:0005350 |
| MONDO:0975530 |
dilated cardiomyopathy due to toxin exposure |
icd11.foundation:92677479 |
MONDO:equivalentTo |
Dilated cardiomyopathy due to toxin exposure |
Dilated cardiomyopathy due to toxin exposure is the presence of dilated cardiomyopathy in association with exposure to a toxic agent known to be associated with dilated cardiomyopathy, including alcohol, chemotherapeutic and psychotherapeutic agents, and chemical toxins such as cocaine, interferon-beta, or interleukin-2. |
MONDO:0016338 |
| MONDO:0975531 |
schistosomiasis due to schistosoma mansoni |
icd11.foundation:927022506 |
MONDO:equivalentTo |
Schistosomiasis due to Schistosoma mansoni |
A disease caused by an infection with the parasitic worm Schistosoma mansoni. This disease commonly presents with Katayama fever, hepatic perisinusoidal egg granulomas, Symmers pipe stem periportal fibrosis, or portal hypertension. This disease may also present with embolic egg granulomas in the brain or spinal cord. Transmission is by direct contact with freshwater that has been contaminated with Schistosoma mansoni eggs or snails that carry Schistosoma mansoni. Confirmation is by identification of the Schistosoma mansoni eggs in a faecal sample. |
MONDO:0015254 |
| MONDO:0975532 |
hereditary acute pancreatitis |
icd11.foundation:927250371 |
MONDO:equivalentTo |
Hereditary acute pancreatitis |
This is a recurrent acute inflammation of pancreas characterised by episodes of severe abdominal pain. Several genetic mutations are associated with this pancreatitis. Onset of the disease is generally under 20 years old, but it can be at any age. |
MONDO:0006515 |
| MONDO:0975533 |
pellagra-like skin rash - neurological manifestations |
icd11.foundation:927375336 |
MONDO:equivalentTo |
Pellagra-like skin rash - neurological manifestations |
This refers to a skin rash from a vitamin deficiency disease most commonly caused by a chronic lack of niacin (vitamin B3) in the diet, with neurological manifestations. |
MONDO:0017350 |
| MONDO:0975534 |
spondylolysis, cervicothoracic region |
icd11.foundation:927514004 |
MONDO:equivalentTo |
Spondylolysis, cervicothoracic region |
|
MONDO:0005541 |
| MONDO:0975535 |
caries with pulp exposure |
icd11.foundation:927752901 |
MONDO:equivalentTo |
Caries with pulp exposure |
Dental caries with pulp exposure is the process in which the carious lesion has penetrated the hard tissues of teeth and has extended to the pulp chamber |
MONDO:0005276 |
| MONDO:0975536 |
acute febrile neutrophilic dermatosis, classical type |
icd11.foundation:928403151 |
MONDO:equivalentTo |
Acute febrile neutrophilic dermatosis, classical type |
Classical acute febrile neutrophilic dermatosis (Sweet syndrome) is sporadic and often associated with preceding upper respiratory tract infection. |
MONDO:0011959 |
| MONDO:0975537 |
subacute or chronic vaginitis |
icd11.foundation:92988960 |
MONDO:equivalentTo |
Subacute or chronic vaginitis |
Chronic vulvovaginal candidiasis, marked by chronic irritative symptoms of vestibule, vulva and vagina, with burning replacing itching as the prominent symptom. Differential diagnosis with chronic atopic dermatitis or atrophic vulvovaginitis. |
MONDO:0002234 |
| MONDO:0975538 |
alcohol dependence, sustained partial remission |
icd11.foundation:931320871 |
MONDO:equivalentTo |
Alcohol dependence, sustained partial remission |
After a diagnosis of alcohol dependence, and often following a treatment episode or other intervention (including self-help intervention), there is a significant reduction in alcohol consumption for more than 12 months, such that even though intermittent or continuing drinking has occurred during this period, the definitional requirements for dependence have not been met. |
MONDO:0007079 |
| MONDO:0975539 |
trichodysplasia - amelogenesis imperfecta |
icd11.foundation:932022875 |
MONDO:equivalentTo |
Trichodysplasia - amelogenesis imperfecta |
Trichodysplasia - amelogenesis imperfecta is defined as the association of amelogenesis imperfecta and a microscopically typical hair dysplasia. |
MONDO:0019287 |
| MONDO:0975540 |
osteochondrosis of os tibiale externum |
icd11.foundation:932252448 |
MONDO:equivalentTo |
Osteochondrosis of os tibiale externum |
|
MONDO:0018381 |
| MONDO:0975541 |
pulmonary manifestations of unspecified cystic fibrosis |
icd11.foundation:932260576 |
MONDO:equivalentTo |
Pulmonary manifestations of unspecified cystic fibrosis |
|
MONDO:0009061 |
| MONDO:0975542 |
autism spectrum disorder without disorder of intellectual development and with absence of functional language |
icd11.foundation:933137034 |
MONDO:equivalentTo |
Autism spectrum disorder without disorder of intellectual development and with absence of functional language |
All definitional requirements for autism spectrum disorder are met, intellectual functioning and adaptive behaviour are found to be at least within the average range (approximately greater than the 2.3rd percentile), and there is complete, or almost complete, absence of ability relative to the individuals age to use functional language (spoken or signed) for instrumental purposes, such as to express personal needs and desires. |
MONDO:0005258 |
| MONDO:0975543 |
ectodermal dysplasia - sensorineural deafness |
icd11.foundation:933665462 |
MONDO:equivalentTo |
Ectodermal dysplasia - sensorineural deafness |
Ectodermal dysplasia - sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. |
MONDO:0019589 |
| MONDO:0975544 |
chronic kidney disease, stage 1 |
icd11.foundation:933902267 |
MONDO:equivalentTo |
Chronic kidney disease, stage 1 |
Kidney damage with normal or increased GFR (>90 ml/min/1.73m) |
MONDO:0005300 |
| MONDO:0975545 |
lumbar malsegmentation - short stature |
icd11.foundation:934413302 |
MONDO:equivalentTo |
Lumbar malsegmentation - short stature |
|
MONDO:0019711 |
| MONDO:0975546 |
carnitine palmitoyltransferase ii deficiency, myopathic form |
icd11.foundation:93488909 |
MONDO:equivalentTo |
Carnitine palmitoyltransferase II deficiency, myopathic form |
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. The clinical manifestations are characterised by recurrent attacks of rhabdomyolysis, muscle pain, and weakness triggered usually by prolonged physical exercise and sometimes exacerbated by extremes in temperature; episodes may also be provoked or exacerbated by prolonged fasting, such as may occur with intercurrent viral illness. |
MONDO:0015515 |
| MONDO:0975547 |
encephalopathy due to prosaposin deficiency |
icd11.foundation:935370911 |
MONDO:equivalentTo |
Encephalopathy due to prosaposin deficiency |
Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses, and is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. |
MONDO:0019255 |
| MONDO:0975548 |
epidural brain abscess |
icd11.foundation:935907700 |
MONDO:equivalentTo |
Epidural brain abscess |
|
MONDO:0000939 |
| MONDO:0975549 |
drug-induced palmoplantar pustulosis |
icd11.foundation:936257638 |
MONDO:equivalentTo |
Drug-induced palmoplantar pustulosis |
Palmoplantar pustulosis precipitated by drugs, in particular TNF-alpha blocking biological drugs used in the treatment of Crohn disease. |
MONDO:0015597 |
| MONDO:0975550 |
acute panautonomic neuropathy |
icd11.foundation:936714888 |
MONDO:equivalentTo |
Acute panautonomic neuropathy |
|
MONDO:0020347 |
| MONDO:0975551 |
cataract with y-shaped suture opacities |
icd11.foundation:937377374 |
MONDO:equivalentTo |
Cataract with Y-shaped suture opacities |
|
MONDO:0011060 |
| MONDO:0975552 |
paraneoplastic lambert eaton syndrome |
icd11.foundation:937378509 |
MONDO:equivalentTo |
Paraneoplastic Lambert Eaton syndrome |
Paraneoplastic Lambert Eaton syndrome may rarely be associated with other tumours than Small cell lung cancer, i.e. non-small-cell and mixed lung Carcinoma, and possibly prostate carcinoma, thymoma and lymphoproliferative malignancies. |
MONDO:0018556 |
| MONDO:0975553 |
subglottic congenital laryngeal web |
icd11.foundation:937398339 |
MONDO:equivalentTo |
Subglottic congenital laryngeal web |
|
MONDO:0007880 |
| MONDO:0975554 |
heberden nodes |
icd11.foundation:937482280 |
MONDO:equivalentTo |
Heberden nodes |
|
MONDO:0005178 |
| MONDO:0975555 |
endometriosis-related adhesions |
icd11.foundation:938154534 |
MONDO:equivalentTo |
Endometriosis-related adhesions |
|
MONDO:0005133 |
| MONDO:0975556 |
axillary adenitis |
icd11.foundation:938901931 |
MONDO:equivalentTo |
Axillary adenitis |
|
MONDO:0002052 |
| MONDO:0975557 |
haemorrhagic stomach ulcer |
icd11.foundation:939323099 |
MONDO:equivalentTo |
Haemorrhagic stomach ulcer |
|
MONDO:0001126 |
| MONDO:0975558 |
benign tumour of tongue posterior to vallate papillae |
icd11.foundation:939578667 |
MONDO:equivalentTo |
Benign tumour of tongue posterior to vallate papillae |
|
MONDO:0021476 |
| MONDO:0975559 |
lipoatrophic panniculitis |
icd11.foundation:941176477 |
MONDO:equivalentTo |
Lipoatrophic panniculitis |
Lipoatrophic panniculitis is a rare, possibly autoimmune disease affecting predominantly children. It manifests as tender erythematous subcutaneous nodules and plaques which are followed by circumferential bands of lipoatrophy, most commonly around the ankles. |
MONDO:0006591 |
| MONDO:0975560 |
other allergic rhinitis |
icd11.foundation:941478759 |
MONDO:equivalentTo |
Other allergic rhinitis |
This refers to other allergic inflammation of the nasal airways. It occurs when an allergen, such as pollen, dust or animal dander (particles of shed skin and hair) is inhaled by an individual with a sensitized immune system. |
MONDO:0011786 |
| MONDO:0975561 |
congenital ectropion, unilateral |
icd11.foundation:942309686 |
MONDO:equivalentTo |
Congenital ectropion, unilateral |
This is an eversion of the edge of an eyelid that occurs only in one eye and is present at birth, resulting in the exposure of the palpebral conjunctiva. |
MONDO:0020161 |
| MONDO:0975562 |
infectious bursitis |
icd11.foundation:942670067 |
MONDO:equivalentTo |
Infectious bursitis |
This is a disorder of inflammation of one or more bursae (small sacs) of synovial fluid in the body which usually results in pain and is caused by an infectious agent. |
MONDO:0002471 |
| MONDO:0975563 |
chancroidal lymphadenitis |
icd11.foundation:942690361 |
MONDO:equivalentTo |
Chancroidal lymphadenitis |
|
MONDO:0001797 |
| MONDO:0975564 |
secondary angle closure glaucoma by neovascular membrane due to diabetic retinopathy |
icd11.foundation:943647258 |
MONDO:equivalentTo |
Secondary angle closure glaucoma by neovascular membrane due to diabetic retinopathy |
|
MONDO:0019783 |
| MONDO:0975565 |
crohn disease of anastomotic sites |
icd11.foundation:943754764 |
MONDO:equivalentTo |
Crohn disease of anastomotic sites |
Crohn disease, which is characterised by chronic and relapsing transmural inflammation, may affect any part of the digestive tract. This refers to Crohn disease involving anastomotic site of gastrointestinal tract, such as anastomotic ulcer due to Crohn disease. |
MONDO:0005011 |
| MONDO:0975566 |
familial pulmonary arterial hypertension |
icd11.foundation:943760810 |
MONDO:equivalentTo |
Familial pulmonary arterial hypertension |
This is a familial increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, together known as the lung vasculature, leading to shortness of breath, dizziness, fainting, and other symptoms, all of which are exacerbated by exertion. |
MONDO:0015924 |
| MONDO:0975567 |
secondary yaws |
icd11.foundation:944473231 |
MONDO:equivalentTo |
Secondary yaws |
Secondary yaws results from lymphatic and haematogenous spread of Treponema pallidum subsp. pertenue spirochaetes from the initial inoculation site and appears from a few weeks to 2 years after the primary infection. The commonest initial symptoms are non-specific and include arthralgia and malaise. Secondary skin lesions consist of multiple papules and nodules similar to the initial lesion but smaller. They may be localised, regional or generalised; they may ulcerate and on moist areas may mimic syphilitic condylomata lata. Hyperkeratotic plaques on the palms and soles may develop painful fissures and secondary infection, resulting in a characteristic crab-like gait. |
MONDO:0006019 |
| MONDO:0975568 |
malignant germ cell tumours of ovary |
icd11.foundation:944929842 |
MONDO:equivalentTo |
Malignant germ cell tumours of ovary |
Ovarian germ-cell tumours are rapidly growing neoplasms that arise from primordial germ cells derived from the embryonal gonad. |
MONDO:0008170 |
| MONDO:0975569 |
cellulitis of tonsil |
icd11.foundation:945079692 |
MONDO:equivalentTo |
Cellulitis of tonsil |
|
MONDO:0005906 |
| MONDO:0975570 |
retinal perivasculitis |
icd11.foundation:945596136 |
MONDO:equivalentTo |
Retinal perivasculitis |
|
MONDO:0006950 |
| MONDO:0975571 |
distal deletions of the long arm of chromosome 1 |
icd11.foundation:945723063 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 1 |
|
MONDO:0022756 |
| MONDO:0975572 |
acute or fulminant melioidosis |
icd11.foundation:945827199 |
MONDO:equivalentTo |
Acute or fulminant melioidosis |
Acute melioidosis typically presents as an acute pneumonia following inhalation or inoculation of the causative bacterium, Burkholderia pseudomallei. This may progress to fulminant septic shock with multiple abscesses in the lungs, liver, spleen, kidneys or brain. There is a significant mortality, which in the majority of cases is associated with preexisting risk factors, especially diabetes, alcoholism or chronic renal disease. Infection in children may present with acute parotiditis. |
MONDO:0017775 |
| MONDO:0975573 |
primary effusion lymphoma associated with the human immune deficiency virus infection |
icd11.foundation:945945187 |
MONDO:equivalentTo |
Primary effusion lymphoma associated with the human immune deficiency virus infection |
This is a B-cell lymphoma, by Kaposi's sarcoma-associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV-8). This diagnosis is associated with the human immune deficiency virus infection. |
MONDO:0018842 |
| MONDO:0975574 |
retinocytoma |
icd11.foundation:946975035 |
MONDO:equivalentTo |
Retinocytoma |
|
MONDO:0021453 |
| MONDO:0975575 |
hereditary pyropoikilocytosis |
icd11.foundation:947237366 |
MONDO:equivalentTo |
Hereditary pyropoikilocytosis |
|
MONDO:0017319 |
| MONDO:0975576 |
male infertility due to female factor |
icd11.foundation:947347660 |
MONDO:equivalentTo |
Male infertility due to female factor |
|
MONDO:0005372 |
| MONDO:0975577 |
benign neoplasm of external upper lip |
icd11.foundation:947359736 |
MONDO:equivalentTo |
Benign neoplasm of external upper lip |
|
MONDO:0021496 |
| MONDO:0975578 |
adult familial nephronophthisis - spastic quadriparesia |
icd11.foundation:948025184 |
MONDO:equivalentTo |
Adult familial nephronophthisis - spastic quadriparesia |
Adult familial nephronophthisis - spastic quadriparesia syndrome is the association of familial adult medullary cystic disease with spastic quadriparesis. |
MONDO:0019005 |
| MONDO:0975579 |
acute interstitial pancreatitis |
icd11.foundation:948413656 |
MONDO:equivalentTo |
Acute interstitial pancreatitis |
|
MONDO:0006515 |
| MONDO:0975580 |
xeroderma - talipes - enamel defects |
icd11.foundation:94847351 |
MONDO:equivalentTo |
Xeroderma - talipes - enamel defects |
|
MONDO:0019287 |
| MONDO:0975581 |
pituitary gland haemorrhage |
icd11.foundation:948519864 |
MONDO:equivalentTo |
Pituitary gland haemorrhage |
|
MONDO:0015127 |
| MONDO:0975582 |
congenital vascular bone syndrome with limb overgrowth |
icd11.foundation:948845726 |
MONDO:equivalentTo |
Congenital vascular bone syndrome with limb overgrowth |
|
MONDO:0016524 |
| MONDO:0975583 |
leigh syndrome with leukodystrophy |
icd11.foundation:949232620 |
MONDO:equivalentTo |
Leigh syndrome with leukodystrophy |
This refers to a rare neurometabolic disorder that affects the central nervous system. This diagnosis is with a group of disorders characterised by dysfunction of the white matter of the brain. |
MONDO:0009723 |
| MONDO:0975584 |
post-kala-azar dermal leishmaniasis |
icd11.foundation:949267034 |
MONDO:equivalentTo |
Post-kala-azar dermal leishmaniasis |
This is a cutaneous condition that is characterised by a macular, depigmented eruption found mainly on the face, arms, and upper part of the trunk. It occurs years after the successful treatment of visceral leishmaniasis. |
MONDO:0005445 |
| MONDO:0975585 |
blepharochalasis upper eyelid |
icd11.foundation:950486885 |
MONDO:equivalentTo |
Blepharochalasis upper eyelid |
This is an inflammation of the eyelid that is characterised by exacerbations and remissions of eyelid oedema, which results in a stretching and subsequent atrophy of the eyelid tissue resulting in redundant folds over the lid margins. This diagnosis is of the upper eyelid. |
MONDO:0002660 |
| MONDO:0975586 |
acute paralytic poliomyelitis, vaccine-associated |
icd11.foundation:953127297 |
MONDO:equivalentTo |
Acute paralytic poliomyelitis, vaccine-associated |
This is an acute inflammation of the spinal cords grey matter, although a severe infection can extend into the brainstem and even higher structures, resulting in polioencephalitis, producing apnoea that requires mechanical assistance such as an iron lung. This diagnosis is vaccine-associated. |
MONDO:0017373 |
| MONDO:0975587 |
intermittent maple-syrup-urine disease |
icd11.foundation:953441965 |
MONDO:equivalentTo |
Intermittent maple-syrup-urine disease |
This is an intermittent autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. |
MONDO:0009563 |
| MONDO:0975588 |
caries of infancy associated with breast feeding |
icd11.foundation:953529395 |
MONDO:equivalentTo |
Caries of infancy associated with breast feeding |
Caries of primary dentition presumably associated with breast feeding |
MONDO:0005276 |
| MONDO:0975589 |
chondromalacia, ankle or foot |
icd11.foundation:9539302 |
MONDO:equivalentTo |
Chondromalacia, ankle or foot |
|
MONDO:0002342 |
| MONDO:0975590 |
chronic gonococcal seminal vesiculitis |
icd11.foundation:953953221 |
MONDO:equivalentTo |
Chronic gonococcal seminal vesiculitis |
|
MONDO:0001027 |
| MONDO:0975591 |
chondrocalcinosis, forearm |
icd11.foundation:954073091 |
MONDO:equivalentTo |
Chondrocalcinosis, forearm |
|
MONDO:0001314 |
| MONDO:0975592 |
chronic sinusitis involving more than one sinus but not pansinusitis |
icd11.foundation:95437466 |
MONDO:equivalentTo |
Chronic sinusitis involving more than one sinus but not pansinusitis |
|
MONDO:0006031 |
| MONDO:0975593 |
aplasia cutis congenita of limbs |
icd11.foundation:955205800 |
MONDO:equivalentTo |
Aplasia cutis congenita of limbs |
Aplasia cutis congenita of limbs is a developmental anomaly described in a few cases and characterised by congenital absence of skin in either the upper or lower limbs or both that healed spontaneously leaving a clinical appearance similar to that of the hypotrichotic scar of an old burn. There was no trunk or scalp involvement. |
MONDO:0007145 |
| MONDO:0975594 |
atypical cystic fibrosis |
icd11.foundation:955958081 |
MONDO:equivalentTo |
Atypical cystic fibrosis |
#DRAFT# This is an atypical autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. It is characterised by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions. |
MONDO:0009061 |
| MONDO:0975595 |
osteoarthritis with determinants |
icd11.foundation:956922001 |
MONDO:equivalentTo |
Osteoarthritis with determinants |
|
MONDO:0005178 |
| MONDO:0975596 |
neutropaenia associated with t-cell large granular lymphocyte leukaemia |
icd11.foundation:957248704 |
MONDO:equivalentTo |
neutropaenia associated with T-cell large granular lymphocyte leukaemia |
T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage. It is characterised by neutropaenia, anaemia or thrombocytopenia, and moderate lymphocytosis. |
MONDO:0015822 |
| MONDO:0975597 |
intrahepatic cholelithiasis |
icd11.foundation:957368526 |
MONDO:equivalentTo |
Intrahepatic cholelithiasis |
|
MONDO:0012672 |
| MONDO:0975598 |
tuberculous oesophagitis |
icd11.foundation:957834829 |
MONDO:equivalentTo |
Tuberculous oesophagitis |
Oesophagitis caused by infection with Mycobacterium tuberculosis. |
MONDO:0957466 |
| MONDO:0975599 |
trichinosis due to trichinella britovi |
icd11.foundation:957854479 |
MONDO:equivalentTo |
Trichinosis due to Trichinella britovi |
|
MONDO:0019444 |
| MONDO:0975600 |
lissencephaly type 3 - familial fetal akinesia sequence |
icd11.foundation:958288618 |
MONDO:equivalentTo |
Lissencephaly type 3 - familial fetal akinesia sequence |
Lissencephaly type 3 - familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. |
MONDO:0015148 |
| MONDO:0975601 |
opitz disease |
icd11.foundation:958295861 |
MONDO:equivalentTo |
Opitz disease |
|
MONDO:0001367 |
| MONDO:0975602 |
prolapse of posterior vaginal wall |
icd11.foundation:958578618 |
MONDO:equivalentTo |
Prolapse of posterior vaginal wall |
|
MONDO:0000082 |
| MONDO:0975603 |
generalised bullous fixed drug eruption |
icd11.foundation:959243514 |
MONDO:equivalentTo |
Generalised bullous fixed drug eruption |
A rare but potentially life-threatening form of fixed drug eruption in which there is extensive blistering and shedding of skin. It may be mistaken for drug-induced toxic epidermal necrolysis but the history of repeated gradually worsening attacks and the histopathological findings from skin biopsy should help distinguish it from the latter. |
MONDO:0017395 |
| MONDO:0975604 |
familial methionine malabsorption |
icd11.foundation:959477544 |
MONDO:equivalentTo |
Familial methionine malabsorption |
|
MONDO:0019222 |
| MONDO:0975605 |
body dysmorphic disorder with poor to absent insight |
icd11.foundation:959548182 |
MONDO:equivalentTo |
Body dysmorphic disorder with poor to absent insight |
All definitional requirements of body dysmorphic disorder are met. Most or all of the time, the individual is convinced that the disorder-specific beliefs are true and cannot accept an alternative explanation for their experience. The lack of insight exhibited by the individual does not vary markedly as a function of anxiety level. |
MONDO:0000690 |
| MONDO:0975606 |
glucosidase 1 deficiency |
icd11.foundation:959745817 |
MONDO:equivalentTo |
Glucosidase 1 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIb is characterised by hepatomegaly, hypoventilation, seizures and feeding problems. To date, it has been reported in only one child who died within the first three months of life. The syndrome is associated with a deficiency in the endoplasmic reticulum enzyme, glucosidase I. |
MONDO:0017740 |
| MONDO:0975607 |
chondrodysplasia punctata from maternal disease |
icd11.foundation:960630446 |
MONDO:equivalentTo |
Chondrodysplasia punctata from maternal disease |
|
MONDO:0019701 |
| MONDO:0975608 |
chronic empyema of nasal sinus |
icd11.foundation:961342634 |
MONDO:equivalentTo |
Chronic empyema of nasal sinus |
|
MONDO:0006031 |
| MONDO:0975609 |
intratonsillar abscess |
icd11.foundation:961777362 |
MONDO:equivalentTo |
Intratonsillar abscess |
|
MONDO:0005906 |
| MONDO:0975610 |
pityriasis lichenoides chronica |
icd11.foundation:961986681 |
MONDO:equivalentTo |
Pityriasis lichenoides chronica |
Pityriasis lichenoides chronica is seen predominantly in children and young adults and manifests as multiple asymptomatic small flesh-coloured or reddish scaly flat papules widely distributed over the trunk and proximal limbs. Lesions may appear in crops, waxing and waning spontaneously over months or years. The cause is unknown. |
MONDO:0024249 |
| MONDO:0975611 |
complement component c6 deficiency |
icd11.foundation:963177941 |
MONDO:equivalentTo |
Complement component C6 deficiency |
Complement component 6 is a protein involved in the complement system. It is part of the membrane attack complex which can insert into the cell membrane and cause cell to lyse. People with C6 deficiency are prone to bacterial infection. |
MONDO:0015700 |
| MONDO:0975612 |
gallbladder pain |
icd11.foundation:963417210 |
MONDO:equivalentTo |
Gallbladder pain |
|
MONDO:0012672 |
| MONDO:0975613 |
chronic inflammatory demyelinating neuropathy with central nervous involvement |
icd11.foundation:964312333 |
MONDO:equivalentTo |
Chronic inflammatory demyelinating neuropathy with central nervous involvement |
|
MONDO:0006702 |
| MONDO:0975614 |
complete trisomy 13, meiotic non-disjunction |
icd11.foundation:964834369 |
MONDO:equivalentTo |
Complete trisomy 13, meiotic non-disjunction |
|
MONDO:0018068 |
| MONDO:0975615 |
b-cell activating factor receptor deficiency |
icd11.foundation:964849331 |
MONDO:equivalentTo |
B-cell activating factor receptor deficiency |
|
MONDO:0015517 |
| MONDO:0975616 |
familial hyperreninaemic hypoaldosteronism type 2 |
icd11.foundation:965080089 |
MONDO:equivalentTo |
Familial hyperreninaemic hypoaldosteronism type 2 |
|
MONDO:0018541 |
| MONDO:0975617 |
dominant intermediate charcot-marie-tooth disease |
icd11.foundation:965200428 |
MONDO:equivalentTo |
Dominant intermediate Charcot-Marie-Tooth disease |
|
MONDO:0018778 |
| MONDO:0975618 |
hyper-igm syndrome with susceptibility to opportunistic infections |
icd11.foundation:965404565 |
MONDO:equivalentTo |
Hyper-IgM syndrome with susceptibility to opportunistic infections |
|
MONDO:0015131 |
| MONDO:0975619 |
acquired hypopituitarism |
icd11.foundation:965423543 |
MONDO:equivalentTo |
Acquired hypopituitarism |
This is the acquired decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. |
MONDO:0005152 |
| MONDO:0975620 |
granular corneal dystrophy |
icd11.foundation:965716695 |
MONDO:equivalentTo |
Granular corneal dystrophy |
This is a slowly progressive corneal dystrophy that most often begins in early childhood. Granular corneal dystrophy has two types: Granular corneal dystrophy type I, also corneal dystrophy Groenouw type I, is a rare form of human corneal dystrophy. Granular corneal dystrophy type II, also called Avellino corneal dystrophy or combined granular-lattice corneal dystrophy is also a rare form of corneal dystrophy. |
MONDO:0018102 |
| MONDO:0975621 |
severe haemophilia a |
icd11.foundation:96616786 |
MONDO:equivalentTo |
Severe haemophilia A |
Severe haemophilia A is a form of haemophilia A (see this term) characterised by a large deficiency of factor VIII leading to frequent spontaneous haemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Severe haemophilia A accounts for around 40% of all cases of haemophilia A. The biological activity of factor VIII is below 1%. Transmission is X-linked recessive and the disorder is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII. |
MONDO:0010602 |
| MONDO:0975622 |
distal duplications of the long arm of chromosome 8 |
icd11.foundation:966225180 |
MONDO:equivalentTo |
Distal duplications of the long arm of chromosome 8 |
|
MONDO:0016959 |
| MONDO:0975623 |
brachydactyly of fingers |
icd11.foundation:966943049 |
MONDO:equivalentTo |
Brachydactyly of fingers |
A condition caused by failure of the fingers to correctly develop during the antenatal period. This condition is characterised by below normal finger length. |
MONDO:0021004 |
| MONDO:0975624 |
benign neoplasm of foreskin |
icd11.foundation:967071402 |
MONDO:equivalentTo |
Benign neoplasm of foreskin |
|
MONDO:0021458 |
| MONDO:0975625 |
schizoaffective disorder, first episode |
icd11.foundation:967849782 |
MONDO:equivalentTo |
Schizoaffective disorder, first episode |
Schizoaffective disorder, first episode should be used to identify individuals experiencing symptoms that meet the diagnostic requirements for Schizoaffective disorder (including duration) but who have never before experienced an episode during which diagnostic requirements for Schizoaffective disorder or Schizophrenia were met. |
MONDO:0005487 |
| MONDO:0975626 |
acute follicular tonsillitis |
icd11.foundation:968321593 |
MONDO:equivalentTo |
Acute follicular tonsillitis |
|
MONDO:0020686 |
| MONDO:0975627 |
spondylolisthesis, cervical region |
icd11.foundation:96876575 |
MONDO:equivalentTo |
Spondylolisthesis, cervical region |
|
MONDO:0008475 |
| MONDO:0975628 |
secondary non-arteritic ischemic optic neuropathy |
icd11.foundation:968878165 |
MONDO:equivalentTo |
Secondary non-arteritic ischemic optic neuropathy |
This refers to secondary non-arteritic ischemic damage to the optic nerve due to any cause. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. |
MONDO:0000499 |
| MONDO:0975629 |
proximal duplications of the long arm of chromosome 2 |
icd11.foundation:968940162 |
MONDO:equivalentTo |
Proximal duplications of the long arm of chromosome 2 |
|
MONDO:0016953 |
| MONDO:0975630 |
congenital agenesis of arachnoid villi |
icd11.foundation:969058597 |
MONDO:equivalentTo |
Congenital agenesis of arachnoid villi |
#DRAFT# This is a type of hydrocephalus due to an impaired reabsorption of CSF by agenesis of the pacchionian system. |
MONDO:0002045 |
| MONDO:0975631 |
dna-ligase iv deficiency |
icd11.foundation:969767034 |
MONDO:equivalentTo |
DNA-ligase IV deficiency |
LIG4 syndrome is a hereditary disorder associated with impaired DNA double strand break repair mechanisms and characterised by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). |
MONDO:0015131 |
| MONDO:0975632 |
chondromalacia, trunk |
icd11.foundation:971762932 |
MONDO:equivalentTo |
Chondromalacia, trunk |
|
MONDO:0002342 |
| MONDO:0975633 |
b lymphoblastic leukaemia or lymphoma, not elsewhere classified |
icd11.foundation:971902553 |
MONDO:equivalentTo |
B lymphoblastic leukaemia or lymphoma, not elsewhere classified |
Precursor B cell neoplasm without defined recurrent genetic abnormality despite appropriate diagnostics |
MONDO:0020511 |
| MONDO:0975634 |
autoimmune encephalitis, neural autoantibody positive |
icd11.foundation:972195461 |
MONDO:equivalentTo |
Autoimmune encephalitis, neural autoantibody positive |
Autoimmune encephalitis, an immune mediated inflammatory disorder of the central nervous system, seropositive for neural autoantibodies. Presentation is subacute with fluctuating cognitive difficulties (particularly short-term memory). |
MONDO:0020640 |
|
|
|
|
|
Associated neural autoantibodies include: |
|
|
|
|
|
|
DPPX (dipeptidyl-peptidaselike protein-6); GABAAR (Gamma-aminobutyric-acid type A antibodies); gAChR (ganglionic acetylcholine receptor autoantibodies (alpha-3 subunit); GAD65 (glutamic acid decarboxylase-65 antibodies); VGKC (LGI1, CASPR2) (voltage gated calcium channel); |
|
| MONDO:0975635 |
pulmonary insufficiency following shock |
icd11.foundation:972865330 |
MONDO:equivalentTo |
Pulmonary insufficiency following shock |
|
MONDO:0100130 |
| MONDO:0975636 |
agenesis of cervix |
icd11.foundation:973038092 |
MONDO:equivalentTo |
Agenesis of cervix |
|
MONDO:0015845 |
| MONDO:0975637 |
postmenopausal osteoporosis, trunk |
icd11.foundation:973190249 |
MONDO:equivalentTo |
Postmenopausal osteoporosis, trunk |
|
MONDO:0008159 |
| MONDO:0975638 |
hay fever with asthma |
icd11.foundation:973503498 |
MONDO:equivalentTo |
Hay fever with asthma |
|
MONDO:0004784 |
| MONDO:0975639 |
juvenile psoriatic arthritis, rheumatoid factor negative, hla b27 positive |
icd11.foundation:973958478 |
MONDO:equivalentTo |
Juvenile psoriatic arthritis, rheumatoid factor negative, HLA B27 positive |
|
MONDO:0019436 |
| MONDO:0975640 |
solitary bone cyst, lower leg |
icd11.foundation:974434444 |
MONDO:equivalentTo |
Solitary bone cyst, lower leg |
|
MONDO:0019372 |
| MONDO:0975641 |
semilobar holoprosencephaly |
icd11.foundation:97445313 |
MONDO:equivalentTo |
Semilobar holoprosencephaly |
Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. |
MONDO:0016296 |
| MONDO:0975642 |
sea sickness |
icd11.foundation:974619738 |
MONDO:equivalentTo |
Sea sickness |
|
MONDO:0008015 |
| MONDO:0975643 |
familial pseudohyperkalaemia, cardiff type |
icd11.foundation:975216558 |
MONDO:equivalentTo |
Familial pseudohyperkalaemia, Cardiff type |
This is a dominant red cell trait characterised by increased serum potassium in whole blood stored at or below room temperature, without additional haematological abnormalities. It appears to be due to mutations in Langereis blood group antigen which encodes an erythrocyte membrane porphyrin transporter. This diagnosis is the Cardiff type. |
MONDO:0012204 |
| MONDO:0975644 |
adult alpha-mannosidosis |
icd11.foundation:975806188 |
MONDO:equivalentTo |
Adult alpha-mannosidosis |
|
MONDO:0009561 |
| MONDO:0975645 |
acarophobia |
icd11.foundation:975969467 |
MONDO:equivalentTo |
Acarophobia |
|
MONDO:0012000 |
| MONDO:0975646 |
neurodegeneration with brain iron accumulation due to c19orf12 mutation |
icd11.foundation:976004020 |
MONDO:equivalentTo |
Neurodegeneration with brain iron accumulation due to C19orf12 mutation |
|
MONDO:0018307 |
| MONDO:0975647 |
malignant pancreatitis |
icd11.foundation:977758882 |
MONDO:equivalentTo |
Malignant pancreatitis |
|
MONDO:0006515 |
| MONDO:0975648 |
acetoacetyl-coa thiolase deficiency |
icd11.foundation:979821944 |
MONDO:equivalentTo |
Acetoacetyl-CoA thiolase deficiency |
This is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown. |
MONDO:0019242 |
| MONDO:0975649 |
nicotine dependence, sustained full remission |
icd11.foundation:980168193 |
MONDO:equivalentTo |
Nicotine dependence, sustained full remission |
After a diagnosis of nicotine dependence, and often following a treatment episode or other intervention (including self-intervention), the person has been abstinent from nicotine for 12 months or longer. |
MONDO:0008575 |
| MONDO:0975650 |
nephritis with oedema |
icd11.foundation:980443399 |
MONDO:equivalentTo |
Nephritis with oedema |
|
MONDO:0005377 |
| MONDO:0975651 |
multifocal motor or sensory demyelinating mononeuropathy |
icd11.foundation:980657399 |
MONDO:equivalentTo |
Multifocal motor or sensory demyelinating mononeuropathy |
Lewis- Sumner syndrome is a dysimmune multifocal demyelinating sensorimotor neuropathy. It should be considered as a clinical asymmetrical variant of chronic inflammatory demyelinating polyneuropathy (CIDP). Patients with LSS usually present with an asymmetrical involvement of the upper limb with distal sensorimotor deficit in median or ulnar territories. |
MONDO:0006702 |
| MONDO:0975652 |
thyroid delirium |
icd11.foundation:98139950 |
MONDO:equivalentTo |
Thyroid delirium |
|
MONDO:0006996 |
| MONDO:0975653 |
subacute appendicitis |
icd11.foundation:981500188 |
MONDO:equivalentTo |
Subacute appendicitis |
|
MONDO:0005649 |
| MONDO:0975654 |
serous conjunctivitis, except viral |
icd11.foundation:982168239 |
MONDO:equivalentTo |
Serous conjunctivitis, except viral |
|
MONDO:0003799 |
| MONDO:0975655 |
other benign neoplasm of stomach |
icd11.foundation:982232848 |
MONDO:equivalentTo |
Other benign neoplasm of stomach |
|
MONDO:0021449 |
| MONDO:0975656 |
chronic purulent rhinitis |
icd11.foundation:982276573 |
MONDO:equivalentTo |
Chronic purulent rhinitis |
|
MONDO:0004514 |
| MONDO:0975657 |
palindromic rheumatism, lower leg |
icd11.foundation:982320227 |
MONDO:equivalentTo |
Palindromic rheumatism, lower leg |
|
MONDO:0001332 |
| MONDO:0975658 |
exocervicitis |
icd11.foundation:982527403 |
MONDO:equivalentTo |
Exocervicitis |
|
MONDO:0002345 |
| MONDO:0975659 |
central cloudy corneal dystrophy of franois |
icd11.foundation:982651620 |
MONDO:equivalentTo |
Central cloudy corneal dystrophy of Franois |
Central cloudy dystrophy of Franois is a very rare form of stromal corneal dystrophy characterised by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision. |
MONDO:0020213 |
| MONDO:0975660 |
hyperreactio luteinalis |
icd11.foundation:98268505 |
MONDO:equivalentTo |
Hyperreactio luteinalis |
|
MONDO:0001625 |
| MONDO:0975661 |
caries limited to enamel |
icd11.foundation:98298032 |
MONDO:equivalentTo |
Caries limited to enamel |
Incipient lesions represent the earliest phase of tooth decay or demineralization and are capable of being reversed, arrested, or progressing to cavitation. |
MONDO:0005276 |
| MONDO:0975662 |
respiratory tuberculosis, confirmed |
icd11.foundation:983550510 |
MONDO:equivalentTo |
Respiratory tuberculosis, confirmed |
A disease of the respiratory tract, caused by an infection with the bacteria Mycobacterium tuberculosis, which has been confirmed by laboratory testing. This disease is characterised by chronic cough, and sputum production that may be haemorrhagic. Transmission is commonly by inhalation of infected respiratory secretions. Confirmation is by identification of Mycobacterium tuberculosis in clinical samples. |
MONDO:0957462 |
| MONDO:0975663 |
inclusion body myopathy |
icd11.foundation:983668658 |
MONDO:equivalentTo |
Inclusion body myopathy |
Inclusion body myopathy (IBM) is distinguished from polymyositis (PM) and dermatomyositis (DM) on the basis of clinical and histopathological features. A characteristic clinical phenotype is characterised by insidious onset of muscle weakness over months to years, muscle weakness localised predominantly in the thigh muscles and finger flexors, and resistance to glucocorticoid treatment. Typical histopathologic features include sarcoplasmic and nuclear inclusions and rimmed vacuoles. |
MONDO:0020122 |
| MONDO:0975664 |
acute motor sensory axonal neuropathy |
icd11.foundation:98367105 |
MONDO:equivalentTo |
Acute motor sensory axonal neuropathy |
Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barr syndrome with a clinical picture (muscle weakness and sensory deficits) similar to that of the more frequent demyelinating form of GBS (acute inflammatory demyelinating polyradiculoneuropathy; AIDP) but with a more severe disease course. |
MONDO:0020347 |
| MONDO:0975665 |
osteochondritis of head of humerus |
icd11.foundation:983679911 |
MONDO:equivalentTo |
Osteochondritis of head of humerus |
|
MONDO:0018381 |
| MONDO:0975666 |
gangrenous pancreatitis |
icd11.foundation:983732786 |
MONDO:equivalentTo |
Gangrenous pancreatitis |
|
MONDO:0006515 |
| MONDO:0975667 |
spinal stenosis with determinant |
icd11.foundation:984614638 |
MONDO:equivalentTo |
Spinal stenosis with determinant |
|
MONDO:0005965 |
| MONDO:0975668 |
limb-girdle muscular dystrophy 1b, lamin myopathy |
icd11.foundation:984625909 |
MONDO:equivalentTo |
Limb-girdle muscular dystrophy 1B, lamin myopathy |
Autosomal dominant limb-girdle muscular dystrophy type 1B is a type of LGMD, a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD 1B is characterised by cardiac conduction abnormalities with dilated cardiomyopathy. |
MONDO:0015151 |
| MONDO:0975669 |
ovarian hyperfunction |
icd11.foundation:98598890 |
MONDO:equivalentTo |
Ovarian hyperfunction |
|
MONDO:0001889 |
| MONDO:0975670 |
thanatophoric dysplasia type ii |
icd11.foundation:986127718 |
MONDO:equivalentTo |
Thanatophoric dysplasia type II |
Thanatophoric dysplasia type II is a form of thanatophoric dysplasia characterised by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull ("Kleeblattschdel"). |
MONDO:0017042 |
| MONDO:0975671 |
nicotine dependence, sustained partial remission |
icd11.foundation:986422897 |
MONDO:equivalentTo |
Nicotine dependence, sustained partial remission |
After a diagnosis of nicotine dependence, and often following a treatment episode or other intervention (including self-help intervention), there is a significant reduction in nicotine consumption for more than 12 months, such that even though intermittent or continuing nicotine use has occurred during this period, the definitional requirements for dependence have not been met. |
MONDO:0008575 |
| MONDO:0975672 |
large cell neuroendocrine carcinoma of thymus |
icd11.foundation:986639771 |
MONDO:equivalentTo |
Large cell neuroendocrine carcinoma of thymus |
|
MONDO:0020516 |
| MONDO:0975673 |
ovarian malignant tumour of sex cord-stromal origin |
icd11.foundation:987537861 |
MONDO:equivalentTo |
Ovarian malignant tumour of sex cord-stromal origin |
Ovarian malignant tumour of sex cord-stromal origin are tumours arising from Leydig cells and/or Sertoli cells represent approximately 8% of ovarian tumours and develop from the connective tissue (respectively, interstitial and nurse cells) of the ovaries. |
MONDO:0008170 |
| MONDO:0975674 |
sparse hair - short stature - skin anomalies |
icd11.foundation:987692472 |
MONDO:equivalentTo |
Sparse hair - short stature - skin anomalies |
Sparse hair - short stature - skin anomalies syndrome is a rare form of ectodermal dysplasia that combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. |
MONDO:0019287 |
| MONDO:0975675 |
neonatal intrahepatic cholestasis caused by citrin deficiency |
icd11.foundation:987981591 |
MONDO:equivalentTo |
Neonatal intrahepatic cholestasis caused by citrin deficiency |
Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterised clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction, and hypoglycaemia. |
MONDO:0016602 |
| MONDO:0975676 |
b lymphoblastic leukaemia or lymphoma with t(12;21) (p13;q22); tel/aml1 (etv6-runx1) |
icd11.foundation:988256163 |
MONDO:equivalentTo |
B lymphoblastic leukaemia or lymphoma with t(12;21) (p13;q22); TEL/AML1 (ETV6-RUNX1) |
A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21. It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome. |
MONDO:0020511 |
| MONDO:0975677 |
laryngotracheooesophageal cleft type i |
icd11.foundation:988493537 |
MONDO:equivalentTo |
Laryngotracheooesophageal cleft type I |
Laryngo-tracheo-oesophageal cleft, type 1 is a congenital respiratory tract anomaly characterised by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms. |
MONDO:0016060 |
| MONDO:0975678 |
familial partial lipodystrophy associated with plin1 mutations |
icd11.foundation:98904071 |
MONDO:equivalentTo |
Familial partial lipodystrophy associated with PLIN1 mutations |
This refers to an autosomal dominant skin condition characterised by the loss of subcutaneous fat. This diagnosis is associated with PLIN1 mutations. |
MONDO:0020088 |
| MONDO:0975679 |
pleuropericardial cyst |
icd11.foundation:989128703 |
MONDO:equivalentTo |
Pleuropericardial cyst |
A congenital finding in which there is a closed sac typically found at the pleupericardial angle, having a distinct membrane and division compared to the nearby tissue. |
MONDO:0017300 |
| MONDO:0975680 |
amnestic aphasia |
icd11.foundation:990710491 |
MONDO:equivalentTo |
Amnestic aphasia |
|
MONDO:0000598 |
| MONDO:0975681 |
papillary squamous cell carcinoma of hypopharynx |
icd11.foundation:991038559 |
MONDO:equivalentTo |
Papillary squamous cell carcinoma of hypopharynx |
|
MONDO:0044638 |
| MONDO:0975682 |
nevo syndrome |
icd11.foundation:991430794 |
MONDO:equivalentTo |
Nevo syndrome |
Nevo syndrome is a rare overgrowth syndrome characterised by prenatal and postnatal overgrowth, joint laxity, kyphosis, wrist drop and long spindle shaped fingers, and volar oedema. |
MONDO:0019716 |
| MONDO:0975683 |
osteoporosis, multiple sites |
icd11.foundation:991701585 |
MONDO:equivalentTo |
Osteoporosis, multiple sites |
|
MONDO:0005298 |
| MONDO:0975684 |
postvasectomy azoospermia |
icd11.foundation:992305674 |
MONDO:equivalentTo |
Postvasectomy azoospermia |
Lack of spermatozoa in the semen as a consequence of bilateral vasectomy |
MONDO:0100459 |
| MONDO:0975685 |
heart failure with decompensation |
icd11.foundation:99230605 |
MONDO:equivalentTo |
Heart failure with decompensation |
|
MONDO:0005252 |
| MONDO:0975686 |
xerosis of cornea with ulceration |
icd11.foundation:994341026 |
MONDO:equivalentTo |
Xerosis of cornea with ulceration |
|
MONDO:0004577 |
| MONDO:0975687 |
toxic megacolon due to crohn disease |
icd11.foundation:994401306 |
MONDO:equivalentTo |
Toxic megacolon due to Crohn disease |
|
MONDO:0002105 |
| MONDO:0975688 |
benign neoplasm of pancreatic duct |
icd11.foundation:994804886 |
MONDO:equivalentTo |
Benign neoplasm of pancreatic duct |
|
MONDO:0021470 |
| MONDO:0975689 |
verbal agnosia |
icd11.foundation:995495019 |
MONDO:equivalentTo |
Verbal agnosia |
|
MONDO:0005638 |
| MONDO:0975690 |
distal deletions of the long arm of chromosome 3 |
icd11.foundation:995561293 |
MONDO:equivalentTo |
Distal deletions of the long arm of chromosome 3 |
|
MONDO:0016902 |
| MONDO:0975691 |
gorlin-chaudhry-moss syndrome |
icd11.foundation:996390253 |
MONDO:equivalentTo |
Gorlin-Chaudhry-Moss syndrome |
Gorlin-Chaudhry-Moss syndrome is characterised by midface hypoplasia, conductive hearing loss, hypertrichosis, coarse hair, shortened metacarpals and distal phalanges, short stature with a stocky body build and multiple ocular abnormalities. |
MONDO:0019287 |
| MONDO:0975692 |
aglossia |
icd11.foundation:996394083 |
MONDO:equivalentTo |
Aglossia |
|
MONDO:0015497 |
| MONDO:0975693 |
parinaud's oculoglandular syndrome |
icd11.foundation:996948013 |
MONDO:equivalentTo |
Parinaud's oculoglandular syndrome |
|
MONDO:0003799 |
| MONDO:0975694 |
peroxisomal d-bifunctional enzyme deficiency |
icd11.foundation:996981847 |
MONDO:equivalentTo |
Peroxisomal D-bifunctional enzyme deficiency |
This refers to the autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific peroxisomal enzymes. |
MONDO:0017753 |
| MONDO:0975695 |
chronic suppurative otitis media |
icd11.foundation:996997454 |
MONDO:equivalentTo |
Chronic suppurative otitis media |
|
MONDO:0021204 |
| MONDO:0975696 |
duodenitis due to external causes |
icd11.foundation:997674795 |
MONDO:equivalentTo |
Duodenitis due to external causes |
Duodenitis caused by external substances, such as alcohol, radiation, chemical agent and by other external causes. |
MONDO:0004627 |
| MONDO:0975697 |
cordis paralysis |
icd11.foundation:997705463 |
MONDO:equivalentTo |
Cordis paralysis |
|
MONDO:0005252 |
| MONDO:0975698 |
stuttering priapism |
icd11.foundation:998323128 |
MONDO:equivalentTo |
Stuttering priapism |
Recurrent Ischaemic, painful prolonged erections caused by venous stasis in the cavernosal bodies. |
MONDO:0004745 |
| MONDO:0975699 |
iris dysplasia - hypertelorism - deafness |
icd11.foundation:998725834 |
MONDO:equivalentTo |
Iris dysplasia - hypertelorism - deafness |
Iris dysplasia - hypertelorism - deafness syndrome is characterised by iris hypoplasia, ocular hypertelorism, psychomotor retardation, short stature, hypotonia and joint hyperlaxity. Mild deafness may also be present. |
MONDO:0019589 |
| MONDO:0975700 |
haemolytic anaemia due to 6-phosphogluconate dehydrogenase deficiency |
icd11.foundation:99964622 |
MONDO:equivalentTo |
Haemolytic anaemia due to 6-phosphogluconate dehydrogenase deficiency |
|
MONDO:0020105 |
| MONDO:0975701 |
autoimmune hepatitis type 3 without mention of cirrhosis |
icd11.foundation:999885351 |
MONDO:equivalentTo |
Autoimmune hepatitis type 3 without mention of cirrhosis |
This is a inflammatory disease caused by immune system cells attacking the liver. It is characterised by seropositivity for SLA/LP antibodies. This diagnosis occurs without an indication of the presence or absence of cirrhosis. |
MONDO:0021177 |
| MONDO:0975702 |
thyrotoxicosis with toxic multinodular goitre |
icd11.foundation:999910988 |
MONDO:equivalentTo |
Thyrotoxicosis with toxic multinodular goitre |
Thyrotoxicosis caused by functioning thyroid multinodules |
MONDO:0010138 |
| MONDO:0975703 |
juvenile polymyositis with pm-scl auto-antibody |
icd11.foundation:999991807 |
MONDO:equivalentTo |
Juvenile polymyositis with PM-Scl auto-antibody |
Juvenile polymyositis with PM-Scl auto-antibody is a systemic autoimmune myopathy characterised by skeletal muscle weakness, typical rashes and other systemic features associated with anti-polymyositis-scleroderma PM-Scl autoantibodies. These autoantibodies are commonly seen in juvenile myositis overlapping with another autoimmune or connective tissue disease. |
MONDO:0019734 |