Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to

Preferred Label : Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to;

MeSH note : mutation in gamma-glutamylcysteine synthetase;

Details

Origin ID

C565557;

UMLS CUI

C1856603;

Automatic exact mappings (from CISMeF team)
- Anemia, congenital, nonspherocytic hemolytic, 7 [OMIM Phenotype]
- glutamate-cysteine ligase deficiency [DO Concept]
CISMeF manual mappings
- Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency [ICD-11 More detail]
DO Cross reference
- glutamate-cysteine ligase deficiency [DO Concept]
MeSH term(s) associated for indexing
- anemia, hemolytic [MeSH Descriptor]
- glutamate-cysteine ligase [MeSH Descriptor]
Record concept(s)
- Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia due to [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, congenital, nonspherocytic hemolytic, 7 [OMIM Phenotype]
- Glutamate-cysteine ligase deficiency [ORDO Disease]
- Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency [ICD-11 More detail]
- glutamate-cysteine ligase deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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