Haemolytic anaemia due to glutathione synthetase deficiency

Preferred Label : Haemolytic anaemia due to glutathione synthetase deficiency;

ICD-11 definition : Glutathione synthetase deficiency is an inborn error of glutathione metabolism characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.;

Details

Origin ID

2135206332;

UMLS CUI

C1856399;

Currated CISMeF NLP mapping
- Anemia, congenital, nonspherocytic hemolytic, 6 [OMIM Phenotype]
- glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to [MeSH 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)
- Anemia, congenital, nonspherocytic hemolytic, 6 [OMIM Phenotype]
- Glutathione synthetase deficiency without 5-oxoprolinuria [ORDO Disease]
- glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to [MeSH concept]

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