OMOP Concept 4079869
Carnitine acylcarnitine translocase deficiency
StandardConditionSNOMED238003000Disorder
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 Carnitine acylcarnitine translocase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C562812 | Carnitine-Acylcarnitine Translocase Deficiency | Non-standard |
| Nebraska Lexicon | 238003000 | Carnitine acylcarnitine translocase deficiency | Non-standard |
Synonyms
Alternative names recorded for Carnitine acylcarnitine translocase deficiency across source vocabularies.
- Carnitine acylcarnitine translocase deficiency (disorder)
- deficiencia de carnitina acilcarnitina translocasa
- deficiencia de carnitina acilcarnitina translocasa (trastorno)
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.
- 1Fatty acid oxidation defect
- 2Autosomal recessive hereditary disorder
- 2Disorder of fatty acid metabolism
- 3Autosomal hereditary disorder
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 3Disorder of organic acid metabolism
- 3Inborn error of metabolism
- 4Congenital disease
- 4Hereditary disease
- 4Hereditary metabolic disease
- 4Metabolic disease
- 5Disease
- 5Disorder of fetus and/or newborn
- 5Genetic disease
- 6Clinical finding
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