OMOP Concept 37471256
Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder
StandardConditionSNOMED1366322006Disorder
Maps from
0
Descendants
0
Valid from
1 May 2025
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder across source vocabularies.
- Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)
- TMLHE gene related carnitine deficiency disorder
- trastorno de deficiencia de carnitina asociada al gen TMLHE
- trastorno por deficiencia de carnitina por hidroxilasa épsilon-N-trimetilisina
- trastorno por deficiencia de carnitina por hidroxilasa épsilon-N-trimetilisina (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(21)Roll up to these when you need a wider cohort.
- 1Carnitine deficiency due to inborn error of metabolism
- 2Disorder of fatty acid metabolism
- 2Secondary carnitine deficiency
- 3Carnitine deficiency
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 3Disorder of organic acid metabolism
- 3Inborn error of metabolism
- 4Amino acid deficiency
- 4Congenital disease
- 4Hereditary metabolic disease
- 4Metabolic disease
- 5Deficiency of micronutrients
- 5Disease
- 5Disorder of amino acid metabolism
- 5Fetal and/or neonatal disorder
- 5Hereditary disease
- 6Clinical finding
- 6Genetic disease
- 6Undernutrition
- 7Nutritional deficiency disorder
- 8Nutritional disorder
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