pyruvate carboxylase deficiency disease

Preferred Label : pyruvate carboxylase deficiency disease;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0023593;

UMLS CUI

C0034341;

Automatic exact mappings (from CISMeF team)
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]
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 [ICD-11 Sub-sub category]
- Pyruvate carboxylase deficiency [OMIM Phenotype]
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency (disorder) [SNOMED CT concept]
- pyruvate carboxylase deficiency [Disease (Nov.)]
- pyruvate carboxylase deficiency [SNOMED Notion]
- pyruvate carboxylase deficiency disease [DO Concept]
- pyruvate decarboxylase deficiency [DO Concept]
Related record
- pyruvate carboxylase deficiency disease [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate Carboxylase Deficiency [NCIt concept]
- Pyruvate carboxylase deficiency [OMIM Phenotype]
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency [PASCAL descriptor]
- Pyruvate carboxylase deficiency [MedDRA Preferred Term]
- Pyruvate carboxylase deficiency (disorder) [SNOMED CT concept]
- pyruvate carboxylase deficiency [SNOMED Notion]
- pyruvate carboxylase deficiency [Disease (Nov.)]
- pyruvate carboxylase deficiency disease [DO Concept]