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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000001552
http://purl.bioontology.org/ontology/NDFRT/N0000001552
|
|---|---|
| Preferred Name | Homocystinuria [Disease/Finding] |
| Synonyms |
Homocystinuria
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | Homocystinuria
|
|---|---|
| prefLabel | Homocystinuria [Disease/Finding]
|
| MESH DEFINITION | Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
|
| MESH DUI | D006712
|
| MESH UI | M0010516
|
| MeSH name | Homocystinuria
|
| type | |
| tui | T047
|
| SNOMED CID | 11282001
|
| May be treated by | |
| notation | N0000001552
|
| Semantic type UMLS property | |
| NUI | N0000001552
|
| cui | C0019880
|
| NDFRT kind | DISEASE_KIND
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |