Pyruvate Dehydrogenase Deficiency

Preferred Label : Pyruvate Dehydrogenase Deficiency;

NCIt synonyms : PDH;

CISMeF acronym : PDH;

NCIt definition : A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia.;

Details

Origin ID

C103968;

UMLS CUI

C0034345;

Automatic exact mappings (from CISMeF team)
- obsolete peptidyl-dipeptidase A activity [GO term]
- pyranose dehydrogenase (acceptor) activity [GO term]
- pyruvate dehydrogenase (acetyl-transferring) activity [GO term]
- pyruvate dehydrogenase phosphatase catalytic subunit 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Deficiency of pyruvate decarboxylase (disorder) [SNOMED CT concept]
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]
- Pyruvate dehydrogenase complex deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- Pyruvate dehydrogenase e1-alpha deficiency [OMIM Phenotype]
- pyruvate decarboxylase deficiency [DO Concept]
- pyruvate decarboxylase deficiency [Disease (Nov.)]
- pyruvate dehydrogenase complex deficiency [SNOMED Notion]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]
- pyruvate dehydrogenase complex deficiency disease [MeSH concept]
DO Cross reference
- pyruvate decarboxylase deficiency [DO Concept]
See also inter- (CISMeF)
- Pyruvate carboxylase deficiency [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of pyruvate decarboxylase (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex deficiency [MedDRA Preferred Term]
- Pyruvate dehydrogenase complex deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- pyruvate decarboxylase deficiency [DO Concept]
- pyruvate decarboxylase deficiency [Disease (Nov.)]
- pyruvate dehydrogenase complex deficiency [SNOMED Notion]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]
- pyruvate dehydrogenase complex deficiency disease [MeSH concept]
Validated automatic mappings to BTNT
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Disorders of pyruvate metabolism [ICD-11 Subcategory]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients