OMOP Concept 37162349
Myopathic form of carnitine palmitoyltransferase II deficiency
StandardConditionSNOMED1187514002Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2022
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Myopathic form of carnitine palmitoyltransferase II deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C563461 | Carnitine Palmitoyltransferase II Deficiency, Late-Onset | Non-standard |
Synonyms
Alternative names recorded for Myopathic form of carnitine palmitoyltransferase II deficiency across source vocabularies.
- Carnitine palmitoyl transferase II deficiency, myopathic form
- CPT2-gene related myopathic form of carnitine palmitoyltransferase II deficiency
- forma miopática de deficiencia de carnitina palmitoiltransferasa II
- forma miopática de deficiencia de carnitina palmitoiltransferasa II relacionada con el gen CPT-2
- forma miopática de deficiencia de carnitina palmitoiltransferasa II (trastorno)
- Myopathic form of carnitine palmitoyltransferase II deficiency (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(20)Roll up to these when you need a wider cohort.
- 1Carnitine palmitoyltransferase II deficiency
- 1Disorder of muscle
- 2Carnitine palmitoyltransferase deficiency
- 2Disease
- 2Fatty acid oxidation defect
- 2Muscle finding
- 3Autosomal recessive hereditary disorder
- 3Clinical finding
- 3Disorder of fatty acid metabolism
- 3Enzymopathy
- 4Autosomal hereditary disorder
- 4Disorder of lipoprotein AND/OR lipid metabolism
- 4Disorder of organic acid metabolism
- 4Inborn error of metabolism
- 4Metabolic disease
- 5Congenital disease
- 5Hereditary disease
- 5Hereditary metabolic disease
- 6Fetal and/or neonatal disorder
- 6Genetic disease
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