238002005: Carnitine palmitoyltransferase II 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 II deficiency
• \Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect\Carnitine palmitoyltransferase II deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Carnitine palmitoyltransferase II deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Carnitine palmitoyltransferase II deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency
• \Metabolic disease\Enzymopathy\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Carnitine palmitoyltransferase II deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\...
• \Fatty acid oxidation defect\Carnitine palmitoyltransferase II deficiency
• \Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3036673017	Carnitine palmitoyltransferase deficiency type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
356726016	CPTII - Carnitine palmitoyltransferase deficiency type II	en	Synonym	Active	Case sensitive	SNOMED CT core
356727013	Muscle form of carnitine palmitoyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
356728015	CPT2 - Carnitine palmitoyltransferase II deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
356729011	Carnitine palmitoyltransferase II deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
626818013	Carnitine palmitoyltransferase II 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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