238001003: Carnitine palmitoyltransferase I deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\...
• \Fatty acid oxidation defect\Carnitine palmitoyltransferase I deficiency
• \Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect\Carnitine palmitoyltransferase I deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Carnitine palmitoyltransferase I deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Carnitine palmitoyltransferase I deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency
• \Metabolic disease\Enzymopathy\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Carnitine palmitoyltransferase I deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\...
• \Fatty acid oxidation defect\Carnitine palmitoyltransferase I deficiency
• \Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
356722019	Carnitine palmitoyltransferase I deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
356723012	Liver form of carnitine palmitoyltransferase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
356724018	CPTI - Carnitine palmitoyltransferase deficiency type I	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
356725017	CPT1 - Carnitine palmitoyltransferase I deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
626817015	Carnitine palmitoyltransferase I deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3037183010	Carnitine palmitoyltransferase deficiency type 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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