pyruvate kinase deficiency of red cells

Preferred Label : pyruvate kinase deficiency of red cells;

MeSH note : PROM mutation in pyruvate kinase PKLR;

MeSH synonym : PK deficiency; pyruvate kinase deficiency of erythrocyte; pyruvate kinase deficiency;

Details

Origin ID

C564858;

UMLS CUI

C0340968;

Currated CISMeF NLP mapping
- Anemia, congenital, nonspherocytic hemolytic, 2 [OMIM Phenotype]
- Deficiency of pyruvate kinase (disorder) [SNOMED CT concept]
- Haemolytic anaemia due to red cell pyruvate kinase deficiency [ICD-11 More detail]
- Hemolytic anemia due to red cell pyruvate kinase deficiency [ORDO Disease]
- Pyruvate Kinase Deficiency [NCIt concept]
- Pyruvate kinase deficiency [PASCAL descriptor]
- pyruvate kinase deficiency [Disease (Nov.)]
- pyruvate kinase deficiency of red cells [DO Concept]
MeSH term(s) associated for indexing
- anemia, hemolytic, congenital nonspherocytic [MeSH Descriptor]
- pyruvate kinase [MeSH Descriptor]
- pyruvate metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- pyruvate kinase deficiency of red cells [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, congenital, nonspherocytic hemolytic, 2 [OMIM Phenotype]
- Deficiency of pyruvate kinase (disorder) [SNOMED CT concept]
- Haemolytic anaemia due to red cell pyruvate kinase deficiency [ICD-11 More detail]
- Hemolytic anemia due to red cell pyruvate kinase deficiency [ORDO Disease]
- Pyruvate Kinase Deficiency [NCIt concept]
- Pyruvate kinase deficiency [PASCAL descriptor]
- Pyruvate kinase deficiency [ICD-11 Sub-sub category]
- pyruvate kinase deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- Pyruvate kinase deficiency [ICD-11 Sub-sub category]

Keyword's position in hierarchy(ies) :

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