Glutathione synthetase deficiency with 5-oxoprolinuria

Preferred Label : Glutathione synthetase deficiency with 5-oxoprolinuria;

ICD-11 synonym : Pyroglutamic acidaemia; Pyroglutamic aciduria;

Details

Origin ID

2005562438;

UMLS CUI

C0398746;

Currated CISMeF NLP mapping
- Deficiency of glutathione synthase (disorder) [SNOMED CT concept]
- Glutathione Synthetase Deficiency [NCIt concept]
- Glutathione synthase deficiency with 5-oxoprolinuria (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency [OMIM Phenotype]
- Glutathione synthetase deficiency [ORDO Disease]
- Glutathione synthetase deficiency [MeSH concept]
- Glutathione synthetase deficiency [MedDRA Preferred Term]
- Glutathione synthetase deficiency (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency with 5-oxoprolinuria [ORDO Disease]
- Reduced glutathione synthetase level [HPO term]
- glutathione synthase deficiency with 5-oxoprolinuria [SNOMED Notion]
- glutathione synthetase deficiency [MeSH Supplementary Concept]
- glutathione synthetase deficiency [Disease (Nov.)]
- glutathione synthetase deficiency [DO Concept]
See also inter- (CISMeF)
- Glutathione synthetase deficiency without 5-oxoprolinuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of glutathione synthase (disorder) [SNOMED CT concept]
- Glutathione Synthetase Deficiency [NCIt concept]
- Glutathione synthase deficiency with 5-oxoprolinuria (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency [OMIM Phenotype]
- Glutathione synthetase deficiency [MeSH concept]
- Glutathione synthetase deficiency [ORDO Disease]
- Glutathione synthetase deficiency [MedDRA Preferred Term]
- Glutathione synthetase deficiency (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency with 5-oxoprolinuria [ORDO Disease]
- Reduced glutathione synthetase level [HPO term]
- glutathione synthase deficiency with 5-oxoprolinuria [SNOMED Notion]
- glutathione synthetase deficiency [MeSH Supplementary Concept]
- glutathione synthetase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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