glutathionuria

Preferred Label : glutathionuria;

MeSH synonym : gamma-glutamyltransferase deficiency; gamma-glutamyltranspeptidase deficiency;

Origin ID

C536836;

UMLS CUI

C0268524;

Automatic exact mappings (from CISMeF team)
- Gamma-glutamyl transpeptidase deficiency [ICD-11 More detail]
- gamma-glutamyl transpeptidase deficiency [DO Concept]
CISMeF manual mappings
- Gamma-glutamyl transpeptidase deficiency [ORDO Disease]
- gamma-glutamyltransferase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Gamma-glutamyl transpeptidase deficiency (disorder) [SNOMED CT concept]
- Glutathionuria [OMIM Phenotype]
DO Cross reference
- gamma-glutamyl transpeptidase deficiency [DO Concept]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- gamma-Glutamyltransferase [MeSH Descriptor]
Record concept(s)
- Glutathionuria [MeSH concept]
See also (suggested by CISMeF)
- glutathione [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gamma-glutamyl transpeptidase deficiency [ORDO Disease]
- Gamma-glutamyl transpeptidase deficiency (disorder) [SNOMED CT concept]
- Glutathionuria [OMIM Phenotype]
- gamma-glutamyl transpeptidase deficiency [DO Concept]
- gamma-glutamyltransferase deficiency [SNOMED Notion]