OMOP Concept 37118686
Deficiency of alpha-ketoglutarate dehydrogenase
StandardConditionSNOMED733630004Disorder
Maps from
2
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Deficiency of alpha-ketoglutarate dehydrogenase via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C536582 | Alpha-ketoglutarate dehydrogenase deficiency | Non-standard |
| Nebraska Lexicon | 733630004 | Deficiency of alpha-ketoglutarate dehydrogenase | Non-standard |
Synonyms
Alternative names recorded for Deficiency of alpha-ketoglutarate dehydrogenase across source vocabularies.
- deficiencia de alfa-cetoglutarato deshidrogenasa
- deficiencia de alfa-cetoglutarato deshidrogenasa (trastorno)
- Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
- oxoglutaricaciduria
- Oxoglutaricaciduria
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(21)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Deficiency of lyase
- 1Disorder of the central nervous system
- 1Inherited metabolic disorder of nervous system
- 2Autosomal hereditary disorder
- 2Central nervous system finding
- 2Disorder of nervous system
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 2Specific enzyme deficiency
- 3Clinical finding
- 3Congenital disease
- 3Disorder of body system
- 3Enzymopathy
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Hereditary metabolic disease
- 4Disease
- 4Disorder of fetus and/or newborn
- 4Genetic disease
- 4Metabolic disease
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