Glutathione synthetase deficiency without 5-oxoprolinuria

Preferred Label : Glutathione synthetase deficiency without 5-oxoprolinuria;

ICD-11 synonym : Erythrocyte glutathione synthase deficiency;

Origin ID

178842925;

UMLS CUI

C0268521;

Currated CISMeF NLP mapping
- Glutathione synthase deficiency without 5-oxoprolinuria (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency without 5-oxoprolinuria [ORDO Disease]
- glutathione synthase deficiency without 5-oxoprolinuria [SNOMED Notion]
See also inter- (CISMeF)
- Glutathione synthetase deficiency with 5-oxoprolinuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutathione synthase deficiency without 5-oxoprolinuria (disorder) [SNOMED CT concept]
- glutathione synthase deficiency without 5-oxoprolinuria [SNOMED Notion]