1366322006: Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine deficiency due to inborn error of metabolism (disorder)\Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)
• \Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine deficiency due to inborn error of metabolism (disorder)\Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine deficiency due to inborn error of metabolism (disorder)\Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Amino acid deficiency (disorder)\Carnitine deficiency (disorder)\Carnitine deficiency due to inborn error of metabolism (disorder)\Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism\Carnitine deficiency due to inborn error of metabolism (disorder)\Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Carnitine deficiency due to inborn error of metabolism (disorder)\Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)
• \Nutritional disorder\Nutritional deficiency disorder\Undernutrition\Deficiency of micronutrients\Amino acid deficiency (disorder)\Carnitine deficiency (disorder)\Carnitine deficiency due to inborn error of metabolism (disorder)\Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5458874011	Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5458877016	TMLHE gene related carnitine deficiency disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5458878014	Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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