OMOP Concept 4262820
Pyruvate dehydrogenase complex deficiency
StandardConditionSNOMED46683007Disorder
Maps from
4
Descendants
4
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
4 source codes normalize to Pyruvate dehydrogenase complex deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 113465 | Pyruvate dehydrogenase complex deficiency | Non-standard |
| HPO | HP_0002928 | Decreased activity of the pyruvate dehydrogenase complex | Non-standard |
| Nebraska Lexicon | 46683007 | Pyruvate dehydrogenase complex deficiency | Non-standard |
| Read | C315000 | Pyruvate dehydrogenase deficiency | Non-standard |
Synonyms
Alternative names recorded for Pyruvate dehydrogenase complex deficiency across source vocabularies.
- ataxia con acidosis láctica I
- Ataxia with lactic acidosis
- Ataxia with lactic acidosis I
- deficiencia compleja de piruvato deshidrogenasa
- deficiencia compleja de piruvato deshidrogenasa (trastorno)
- deficiencia de PDH
- Deficiency of pyruvate dehydrogenase (cytochrome)
- Deficiency of pyruvic dehydrogenase
- PDH deficiency
- PDH - Pyruvate dehydrogenase deficiency
- Pyruvate dehydrogenase complex deficiency (disorder)
- Pyruvate dehydrogenase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Inborn error of pyruvate metabolism
- 1Lactic acidosis
- 2Disorder of pyruvate metabolism and mitochondrial respiratory chain
- 2Metabolic acidosis, IAG, accumulation of organic acids
- 3Inborn error of metabolism
- 3Metabolic acidosis, increased anion gap (IAG)
- 4Congenital disease
- 4Hereditary metabolic disease
- 4Metabolic acidosis
- 5Acidosis
- 5Disorder of fetus and/or newborn
- 5Hereditary disease
- 5Metabolic disease
- 6Disease
- 6Disorder of acid-base balance
- 6Genetic disease
- 7Clinical finding
Narrower concepts
(4)Included automatically when you query with descendants.
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