glutamate-cysteine ligase deficiency

Preferred Label : glutamate-cysteine ligase deficiency;

Origin ID

D6-A3550;

UMLS CUI

C0268523;

Automatic exact mappings (from CISMeF team)
- glutamate-cysteine ligase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Anemia, congenital, nonspherocytic hemolytic, 7 [OMIM Phenotype]
- Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to [MeSH concept]
- Glutamate-cysteine ligase deficiency [ORDO Disease]
- Glutamate-cysteine ligase deficiency (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Other specified disorders of amino-acid metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies [ORDO Disease]
- Rare constitutional hemolytic anemia [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- glutamate-cysteine ligase [SNOMED Notion]
SNOMED CT concept
- Glutamate-cysteine ligase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutamate-cysteine ligase deficiency (disorder) [SNOMED CT concept]