cystathionase deficiency

Preferred Label : cystathionase deficiency;

MeSH note : mutation in cystathionine gamma-lyase;

Origin ID

C562680;

UMLS CUI

C3495552;

Automatic exact mappings (from CISMeF team)
- Cystathionine gamma-lyase deficiency (disorder) [SNOMED CT concept]
- Cystathioninuria [OMIM Phenotype]
- cystathioninuria [DO Concept]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- cystathionine gamma-lyase [MeSH Descriptor]
Record concept(s)
- cystathionase deficiency [MeSH concept]
See also inter- (CISMeF)
- Cystathioninuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]