Pyruvate dehydrogenase complex E1-alpha subunit deficiency

Preferred Label : Pyruvate dehydrogenase complex E1-alpha subunit deficiency;

ICD-11 definition : Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, ) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.;

ICD-11 synonym : Pyruvate dehydrogenase complex E1 subunit deficiency; Pyruvate decarboxylase deficiency;

Details

Origin ID

1253259207;

UMLS CUI

C1839413;

Currated CISMeF NLP mapping
- Pyruvate dehydrogenase E1-alpha deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase e1-alpha deficiency [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate dehydrogenase e1-alpha deficiency [OMIM Phenotype]
- pyruvate dehydrogenase E1 alpha deficiency [MeSH concept]
- pyruvate dehydrogenase E1 alpha deficiency [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Deficiency of pyruvate decarboxylase (disorder) [SNOMED CT concept]
- pyruvate decarboxylase deficiency [DO Concept]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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