Pyruvate carboxylase deficiency

ICD-11 code : 5C53.03;

Preferred Label : Pyruvate carboxylase deficiency;

ICD-11 definition : This is a deficiency in the enzyme of the ligase class that catalyzes the (depending on the species) irreversible carboxylation of pyruvate to form oxaloacetate (OAA).;

ICD-11 synonym : Ataxia with lactic acidosis type II;

Details

Origin ID

2047948460;

Automatic exact mappings (from CISMeF team)
- Pyruvate carboxylase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
- Pyruvate Carboxylase Deficiency [NCIt concept]
- Pyruvate carboxylase deficiency [PASCAL descriptor]
- Pyruvate carboxylase deficiency [OMIM Phenotype]
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency (disorder) [SNOMED CT concept]
- pyruvate carboxylase deficiency [SNOMED Notion]
- pyruvate carboxylase deficiency [Disease (Nov.)]
- pyruvate carboxylase deficiency disease [DO Concept]
- pyruvate carboxylase deficiency disease [MeSH Descriptor]
- pyruvate carboxylase deficiency disease [MeSH concept]
- pyruvate decarboxylase deficiency [DO Concept]
ICD-10 Mapping
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
See also inter- (CISMeF)
- Pyruvate Dehydrogenase Deficiency [NCIt concept]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- pyruvate dehydrogenase complex deficiency [SNOMED Notion]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]
Validated automatic mappings to NTBT
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
- Disorders of pyruvate metabolism and gluconeogenesis (disorder) [SNOMED CT concept]

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