OMOP Concept 604885
Pyruvate dehydrogenase complex E2 subunit deficiency
StandardConditionSNOMED1003849000Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2021
Valid to
31 Dec 2099
OMOP concepts
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Synonyms
Alternative names recorded for Pyruvate dehydrogenase complex E2 subunit deficiency across source vocabularies.
- deficiencia de subunidad E2 del complejo piruvato deshidrogenasa
- deficiencia de subunidad E2 del complejo piruvato deshidrogenasa (trastorno)
- déficit de subunidad E2 del complejo piruvato deshidrogenasa
- Pyruvate dehydrogenase complex E2 subunit deficiency (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(18)Roll up to these when you need a wider cohort.
- 1Pyruvate dehydrogenase complex deficiency
- 2Inborn error of pyruvate metabolism
- 2Lactic acidosis
- 3Disorder of pyruvate metabolism and mitochondrial respiratory chain
- 3Metabolic acidosis, IAG, accumulation of organic acids
- 4Inborn error of metabolism
- 4Metabolic acidosis, increased anion gap (IAG)
- 5Congenital disease
- 5Hereditary metabolic disease
- 5Metabolic acidosis
- 6Acidosis
- 6Disorder of fetus and/or newborn
- 6Hereditary disease
- 6Metabolic disease
- 7Disease
- 7Disorder of acid-base balance
- 7Genetic disease
- 8Clinical finding
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