gamma-cystathionase deficiency

Preferred Label : gamma-cystathionase deficiency;

MeSH synonym : cystathioninuria;

Détails

Origin ID

C535408;

UMLS CUI

C0268616;

Automatic exact mappings (from CISMeF team)
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category]
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category (who)]
CISMeF manual mappings
- Cystathione gamma-lyase deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Cystathionine gamma-lyase deficiency (disorder) [SNOMED CT concept]
- cystathionine gamma-lyase deficiency [SNOMED Notion]
DO Cross reference
- cystathioninuria [DO Concept]
MeSH term(s) associated for indexing
- hyperhomocysteinemia [MeSH Descriptor]
ORDO relation(s)
- Cystathioninuria [ORDO Disease]
Record concept(s)
- Gamma-cystathionase deficiency [MeSH concept]
See also (suggested by CISMeF)
- cystathionine [MeSH Descriptor]
- cystathionine gamma-lyase [MeSH Descriptor]
See also inter- (CISMeF)
- Cystathioninuria [PASCAL descriptor]
- Cystathioninuria [ICD-11 More detail]
- Cystathioninuria [NCIt concept]
- Cystathioninuria [HPO term]
- Cystathioninuria [OMIM Phenotype]
- Cystathioninuria [ORDO Disease]
- Cystathioninuria (disorder) [SNOMED CT concept]
- cystathioninuria [DO Concept]
- cystathioninuria [Disease (Nov.)]
- cystathioninuria [CISMeF Querying Strategy]
- cystathioninuria, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystathione gamma-lyase deficiency (disorder) [SNOMED CT concept]
- Cystathionine gamma-lyase deficiency (disorder) [SNOMED CT concept]
- cystathionine gamma-lyase deficiency [SNOMED Notion]

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