Glutathione Synthetase Deficiency

Preferred Label : Glutathione Synthetase Deficiency;

NCIt synonyms : GSSD; Pyroglutamic Aciduria; 5-Oxoprolinuria;

NCIt definition : An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is causative in hemolytic anemia due to glutathione synthetase deficiency, with the more severe condition causing elevated urinary concentrations of 5-oxoproline and central nervous system damage in addition to hemolytic anemia.;

Détails

Origin ID

C128193;

UMLS CUI

C5848078;

Currated CISMeF NLP mapping
- Deficiency of glutathione synthase (disorder) [SNOMED CT 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 [ICD-11 More detail]
- 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 [DO Concept]
- glutathione synthetase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of glutathione synthase (disorder) [SNOMED CT concept]
- Glutathione synthase deficiency with 5-oxoprolinuria (disorder) [SNOMED CT concept]
- Glutathione synthetase deficiency [ORDO Disease]
- Glutathione synthetase deficiency [OMIM Phenotype]
- 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 synthase deficiency with 5-oxoprolinuria [SNOMED Notion]
- glutathione synthetase deficiency [MeSH Supplementary Concept]
- glutathione synthetase deficiency [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- GSS Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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