238002005: Carnitine palmitoyltransferase II 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 II deficiency

\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency

\trouble métabolique\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency
\trouble métabolique\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency
\trouble métabolique\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency
\trouble métabolique\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency
\trouble métabolique\Enzymopathy\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\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 (disorder)\Carnitine palmitoyltransferase II deficiency

\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carnitine palmitoyltransferase II deficiency	est un(e) (attribut)	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Some
Carnitine palmitoyltransferase II deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Carnitine palmitoyltransferase II deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Carnitine palmitoyltransferase II deficiency	est un(e) (attribut)	Carnitine palmitoyltransferase deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe infantile form of carnitine palmitoyltransferase II deficiency	est un(e) (attribut)	True	Carnitine palmitoyltransferase II deficiency	Inferred relationship	Some
Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)	est un(e) (attribut)	True	Carnitine palmitoyltransferase II deficiency	Inferred relationship	Some
Myopathic form of carnitine palmitoyltransferase II deficiency	est un(e) (attribut)	True	Carnitine palmitoyltransferase II deficiency	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
3036673017	Carnitine palmitoyltransferase deficiency type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356726016	CPTII - Carnitine palmitoyltransferase deficiency type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356727013	Muscle form of carnitine palmitoyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356728015	CPT2 - Carnitine palmitoyltransferase II deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356729011	Carnitine palmitoyltransferase II deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
549551000241114	déficit en carnitine palmitoyltransférase II (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
626818013	Carnitine palmitoyltransferase II deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
993071000172115	CPT2 - carnitine palmitoyltransferase II deficiency	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
996201000172114	déficit en carnitine palmitoyltransférase II	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)