Pyruvate Carboxylase Deficiency

Preferred Label : Pyruvate Carboxylase Deficiency;

NCIt synonyms : Pyruvate Carboxylase Deficiency Disease;

NCIt definition : A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.;

Details

Origin ID

C85040;

UMLS CUI

C0034341;

Automatic exact mappings (from CISMeF team)
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]
- Pyruvate carboxylase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
- 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 carboxylase deficiency disease [MeSH Descriptor]
- pyruvate carboxylase deficiency disease [MeSH concept]
- pyruvate decarboxylase deficiency [DO Concept]
DO Cross reference
- pyruvate carboxylase deficiency disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency [OMIM Phenotype]
- Pyruvate carboxylase deficiency [PASCAL descriptor]
- Pyruvate carboxylase deficiency [MedDRA Preferred Term]
- Pyruvate carboxylase deficiency (disorder) [SNOMED CT concept]
- pyruvate carboxylase deficiency [Disease (Nov.)]
- pyruvate carboxylase deficiency [SNOMED Notion]
- pyruvate carboxylase deficiency disease [DO Concept]
- pyruvate carboxylase deficiency disease [MeSH concept]
- pyruvate carboxylase deficiency disease [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients