Classical homocystinuria

Preferred Label : Classical homocystinuria;

ICD-11 definition : Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is an autosomal recessively inherited disorder of methionine metabolism characterized by the multiple involvement of the eye (edtopia lentis), skeleton genu valgum and pes cavus), central nervous system intellectual deficit, psychiatric illness), and vascular system (thromboembolism).;

ICD-11 synonym : Homocystinuria due to cystathionine beta-synthase deficiency; CBS - [Cystathionine beta-synthase] deficiency; Cystathionine beta-synthase deficiency; CBS deficiency;

Details

Origin ID

1480749127;

UMLS CUI

C0751202;

Currated CISMeF NLP mapping
- Classic homocystinuria [ORDO Disease]
- Cystathionine beta-synthase deficiency [MedDRA Preferred Term]
- Cystathionine beta-synthase deficiency (disorder) [SNOMED CT concept]
- cystathionine beta synthase deficiency [Disease (Nov.)]
- cystathionine beta-Synthase deficiency disease [MeSH concept]
- cystathionine beta-synthase deficiency [SNOMED Notion]
See also inter- (CISMeF)
- Homocystinuria due to cystathionine beta-synthase deficiency [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic homocystinuria [ORDO Disease]
- Cystathionine beta-synthase deficiency [MedDRA Preferred Term]
- Cystathionine beta-synthase deficiency (disorder) [SNOMED CT concept]
- Homocystinuria due to cystathionine beta-synthase deficiency [OMIM Phenotype]
- cystathionine beta-Synthase deficiency disease [MeSH concept]
- cystathionine beta-synthase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- Homocystinuria [NCIt concept]
- Homocystinuria [PASCAL descriptor]
- Homocystinuria [MedDRA Preferred Term]
- Homocystinuria [HPO term]
- Homocystinuria (disorder) [SNOMED CT concept]
- homocystinuria [MeSH Descriptor]
- homocystinuria [Disease (Nov.)]
- homocystinuria [DO Concept]
- homocystinuria [MeSH concept]
- homocystinuria, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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