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\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Carnitine palmitoyltransferase I deficiency
• \Metabolic disease\Organic acid metabolism disorder\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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