OMOP Concept 4234994
Carnitine palmitoyltransferase deficiency
StandardConditionSNOMED90500005Disorder
Maps from
3
Descendants
5
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
3 source codes normalize to Carnitine palmitoyltransferase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 146150 | Carnitine palmitoyltransferase deficiency | Non-standard |
| ICD10CM | E71.314 | Muscle carnitine palmitoyltransferase deficiency | Non-standard |
| Nebraska Lexicon | 90500005 | Carnitine palmitoyltransferase deficiency | Non-standard |
Synonyms
Alternative names recorded for Carnitine palmitoyltransferase deficiency across source vocabularies.
- Carnitine palmitoyltransferase deficiency (disorder)
- deficiencia de carnitina palmitoiltransferasa
- deficiencia de carnitina palmitoiltransferasa (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(13)Roll up to these when you need a wider cohort.
- 1Disorder of fatty acid metabolism
- 1Enzymopathy
- 2Disorder of lipoprotein AND/OR lipid metabolism
- 2Disorder of organic acid metabolism
- 2Inborn error of metabolism
- 2Metabolic disease
- 3Congenital disease
- 3Disease
- 3Hereditary metabolic disease
- 4Clinical finding
- 4Disorder of fetus and/or newborn
- 4Hereditary disease
- 5Genetic disease
Narrower concepts
(5)Included automatically when you query with descendants.
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