glutathione synthase deficiency with 5-oxoprolinuria - CISMeF

" /> glutathione synthase deficiency with 5-oxoprolinuria - CISMeF

CISMeF

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Glutathione synthase deficiency with 5-oxoprolinuriaSNOMED Notion

Preferred Label : glutathione synthase deficiency with 5-oxoprolinuria;

Details

Origin ID

D6-A3510;

UMLS CUI

C0398746;

CISMeF manual mappings
- Glutathione synthetase deficiency [ORDO Disease]
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 [MedDRA Preferred Term]
- Glutathione synthetase deficiency [MeSH concept]
- Glutathione synthetase deficiency (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency with 5-oxoprolinuria [ICD-11 More detail]
- Glutathione synthetase deficiency with 5-oxoprolinuria [ORDO Disease]
- Reduced glutathione synthetase level [HPO term]
- glutathione synthetase deficiency [Disease (Nov.)]
- glutathione synthetase deficiency [MeSH Supplementary Concept]
- glutathione synthetase deficiency [DO Concept]
False automatic mappings
- Glutathione synthase deficiency without 5-oxoprolinuria (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]
- glutathione synthase [SNOMED Notion]
SNOMED CT concept
- Glutathione synthase deficiency with 5-oxoprolinuria (disorder) [SNOMED CT concept]
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 [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 [ICD-11 More detail]
- Glutathione synthetase deficiency with 5-oxoprolinuria [ORDO Disease]
- Reduced glutathione synthetase level [HPO term]
- glutathione synthetase deficiency [Disease (Nov.)]
- glutathione synthetase deficiency [MeSH Supplementary Concept]

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25/05/2025

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