238001003: Carnitine palmitoyltransferase I deficiency (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Inborn error of metabolism\Disorder of fatty acid metabolism\...
• \Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase I deficiency
• \Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase I deficiency
• \trouble métabolique\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase I deficiency
• \trouble métabolique\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency
• \trouble métabolique\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase I deficiency
• \trouble métabolique\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency
• \trouble métabolique\Enzymopathy\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency
• \trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase I deficiency
• \trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\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 (disorder)\Carnitine palmitoyltransferase I deficiency
• \Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency

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

Descriptions:

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

Expanded Value Set

Reference Sets

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