OMOP Concept 4049570
Deficiency of carnitine acetyltransferase
StandardConditionSNOMED124257002Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
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 carnitine acetyltransferase via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C563249 | Carnitine Acetyltransferase Deficiency | Non-standard |
| Nebraska Lexicon | 124257002 | Deficiency of carnitine acetyltransferase | Non-standard |
Synonyms
Alternative names recorded for Deficiency of carnitine acetyltransferase across source vocabularies.
- deficiencia de carnitina acetiltransferasa
- deficiencia de carnitina acetiltransferasa (trastorno)
- Deficiency of carnitine acetyltransferase (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(15)Roll up to these when you need a wider cohort.
- 1Deficiency of transferase
- 1Disorder of fatty acid metabolism
- 2Disorder of lipoprotein AND/OR lipid metabolism
- 2Disorder of organic acid metabolism
- 2Inborn error of metabolism
- 2Specific enzyme deficiency
- 3Congenital disease
- 3Enzymopathy
- 3Hereditary metabolic disease
- 3Metabolic disease
- 4Disease
- 4Disorder of fetus and/or newborn
- 4Hereditary disease
- 5Clinical finding
- 5Genetic disease
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