Haemolytic anaemia due to red cell pyruvate kinase deficiency

Preferred Label : Haemolytic anaemia due to red cell pyruvate kinase deficiency;

ICD-11 definition : Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia. PK deficiency is the most frequent cause of congenital nonspherocytic hemolytic anemia.;

Details

Origin ID

336454961;

UMLS CUI

C0340968;

CISMeF manual mappings
- Hemolytic anemia due to red cell pyruvate kinase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Deficiency of pyruvate kinase (disorder) [SNOMED CT concept]
- Pyruvate Kinase Deficiency [NCIt concept]
- Pyruvate kinase deficiency [PASCAL descriptor]
- Pyruvate kinase deficiency of red cells [OMIM Phenotype]
- pyruvate kinase deficiency [Disease (Nov.)]
- pyruvate kinase deficiency of red cells [MeSH concept]
- pyruvate kinase deficiency of red cells [MeSH Supplementary Concept]
- pyruvate kinase deficiency of red cells [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of pyruvate kinase (disorder) [SNOMED CT concept]
- Hemolytic anemia due to red cell pyruvate kinase deficiency [ORDO Disease]
- Pyruvate Kinase Deficiency [NCIt concept]
- Pyruvate kinase deficiency [PASCAL descriptor]
- Pyruvate kinase deficiency of red cells [OMIM Phenotype]
- pyruvate kinase deficiency [Disease (Nov.)]
- pyruvate kinase deficiency of red cells [MeSH concept]
- pyruvate kinase deficiency of red cells [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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