OMOP Concept 4031804
Carnitine palmitoyltransferase II deficiency
StandardConditionSNOMED238002005Disorder
Maps from
3
Descendants
3
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 II deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 146148 | Carnitine palmitoyltransferase II deficiency | Non-standard |
| MeSH | C535589 | Carnitine palmitoyl transferase 2 deficiency | Non-standard |
| Nebraska Lexicon | 238002005 | Muscle form of carnitine palmitoyltransferase deficiency | Non-standard |
Synonyms
Alternative names recorded for Carnitine palmitoyltransferase II deficiency across source vocabularies.
- Carnitine palmitoyltransferase deficiency type 2
- Carnitine palmitoyltransferase II deficiency (disorder)
- CPT2 - Carnitine palmitoyltransferase II deficiency
- CPTII - Carnitine palmitoyltransferase deficiency type II
- deficiencia de la carnitina palmitoiltransferasa II
- deficiencia de la carnitina palmitoiltransferasa II (trastorno)
- Muscle form of carnitine palmitoyltransferase 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.
- 1Carnitine palmitoyltransferase deficiency
- 1Fatty acid oxidation defect
- 2Autosomal recessive hereditary disorder
- 2Disorder of fatty acid metabolism
- 2Enzymopathy
- 3Autosomal hereditary disorder
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 3Disorder of organic acid metabolism
- 3Inborn error of metabolism
- 3Metabolic disease
- 4Congenital disease
- 4Disease
- 4Hereditary disease
- 4Hereditary metabolic disease
- 5Clinical finding
- 5Disorder of fetus and/or newborn
- 5Genetic disease
Narrower concepts
(3)Included automatically when you query with descendants.
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