Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency

Preferred Label : Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency;

ICD-11 definition : Gamma-glutamylcysteine synthetase deficiency is a constitutional hemolytic anemia, (usually rather mild), associated with the presence of neurological signs.;

Details

Origin ID

1317802710;

UMLS CUI

C1856603;

CISMeF manual mappings
- Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Anemia, congenital, nonspherocytic hemolytic, 7 [OMIM Phenotype]
- Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to [MeSH concept]
- congenital nonspherocytic hemolytic anemia 7 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, congenital, nonspherocytic hemolytic, 7 [OMIM Phenotype]
- Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to [MeSH concept]
- Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to [MeSH Supplementary Concept]
- Glutamate-cysteine ligase deficiency [ORDO Disease]
- congenital nonspherocytic hemolytic anemia 7 [DO Concept]

Keyword's position in hierarchy(ies) :

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