Pyruvate Kinase Deficiency

Preferred Label : Pyruvate Kinase Deficiency;

NCIt related terms : Hemolytic Anemia due to Pyruvate Kinase Deficiency;

NCIt definition : An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia.;

Alternative definition : NICHD: An autosomal recessive disorder caused by mutations of the PKLR gene. It is the most common inherited cause of non-spherocytic hemolytic anemia.;

Details

Origin ID

C99037;

UMLS CUI

C0340968;

Automatic exact mappings (from CISMeF team)
- Hemolytic anemia due to pyruvate kinase deficiency (disorder) [SNOMED CT concept]
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 [PASCAL descriptor]
- Pyruvate kinase deficiency [ICD-11 Sub-sub category]
- pyruvate kinase deficiency [Disease (Nov.)]
- pyruvate kinase deficiency of red cells [MeSH Supplementary Concept]
- pyruvate kinase deficiency of red cells [MeSH concept]
- pyruvate kinase deficiency of red cells [DO 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 [PASCAL descriptor]
- Pyruvate kinase deficiency [ICD-11 Sub-sub category]
- pyruvate kinase deficiency [Disease (Nov.)]
- pyruvate kinase deficiency of red cells [MeSH concept]
- pyruvate kinase deficiency of red cells [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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