glutathione synthetase deficiency

Preferred Label : glutathione synthetase deficiency;

MeSH synonym : 5-oxoprolinuria; pyroglutamic aciduria; 5-oxoprolinemia; pyroglutamic acidemia; deficiency of glutathione synthase; deficiency of glutathione synthetase;

Details

Origin ID

C536835;

UMLS CUI

C5848078;

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 [MedDRA Preferred Term]
- Glutathione synthetase deficiency [OMIM Phenotype]
- Glutathione synthetase deficiency [ORDO Disease]
- 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 [Disease (Nov.)]
- glutathione synthetase deficiency [DO Concept]
HPO term
- Reduced glutathione synthetase level [HPO term]
Has phenotype(s) (HPO)
- Increased hemolysis [HPO term]
- Mild anemia [HPO term]
- Mild hemolytic anemia [HPO term]
- Peripheral retinal pigmentation abnormalities [HPO term]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- glutathione synthase [MeSH Descriptor]
ORDO relation(s)
- Glutathione synthetase deficiency [ORDO Disease]
Record concept(s)
- Glutathione synthetase deficiency [MeSH concept]
- glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to [MeSH concept]
See also (suggested by CISMeF)
- pyrrolidonecarboxylic acid [MeSH Descriptor]
- pyrrolidonecarboxylic acid [MeSH Descriptor]
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 [ORDO Disease]
- Glutathione synthetase deficiency [OMIM Phenotype]
- 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 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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