Pyruvate dehydrogenase phosphatase deficiency

Preferred Label : Pyruvate dehydrogenase phosphatase deficiency;

ICD-11 definition : Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, ) characterized by lactic acidemia in the neonatal period;

ICD-11 synonym : Phosphopyruvate dehydrogenase phosphatase deficiency; PDH - [Pyruvate dehydrogenase] phosphatase deficiency; PDH phosphatase deficiency;

Details

Origin ID

1709497558;

UMLS CUI

C1837429;

Currated CISMeF NLP mapping
- Pyruvate dehydrogenase phosphatase deficiency [MeSH concept]
- Pyruvate dehydrogenase phosphatase deficiency [ORDO Disease]
- Pyruvate dehydrogenase phosphatase deficiency [OMIM Phenotype]
- Pyruvate dehydrogenase phosphatase deficiency (disorder) [SNOMED CT concept]
- pyruvate dehydrogenase phosphatase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate dehydrogenase phosphatase deficiency [OMIM Phenotype]
- Pyruvate dehydrogenase phosphatase deficiency [MeSH concept]
- Pyruvate dehydrogenase phosphatase deficiency [ORDO Disease]
- Pyruvate dehydrogenase phosphatase deficiency (disorder) [SNOMED CT concept]
- pyruvate dehydrogenase phosphatase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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