Pyruvate kinase deficiency

ICD-11 code : 5C53.00;

Preferred Label : Pyruvate kinase deficiency;

ICD-11 definition : This refers an enzyme involved in glycolysis. It catalyzes the transfer of a phosphate group from phosphoenolpyruvate (PEP) to ADP, yielding one molecule of pyruvate and one molecule of ATP.;

Details

Origin ID

1055568225;

UMLS CUI

C0340968;

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 [Disease (Nov.)]
ICD-10 Mapping
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
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]
Validated automatic mappings to BTNT
- Hemolytic anemia due to red cell pyruvate kinase deficiency [ORDO Disease]
- Pyruvate kinase deficiency of red cells [OMIM Phenotype]
- pyruvate kinase deficiency of red cells [MeSH Supplementary Concept]
- pyruvate kinase deficiency of red cells [MeSH concept]
Validated automatic mappings to NTBT
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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