238002005: Carnitine palmitoyltransferase II deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\...

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

\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\...

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

\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency (disorder)
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency (disorder)
\Metabolic disease\Enzymopathy\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency (disorder)

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 (disorder)	Is a	Carnitine palmitoyltransferase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Carnitine palmitoyltransferase II deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Carnitine palmitoyltransferase II deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Carnitine palmitoyltransferase II deficiency (disorder)	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe infantile form of carnitine palmitoyltransferase II deficiency	Is a	True	Carnitine palmitoyltransferase II deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal form of carnitine palmitoyltransferase II deficiency	Is a	True	Carnitine palmitoyltransferase II deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Myopathic form of carnitine palmitoyltransferase II deficiency	Is a	True	Carnitine palmitoyltransferase II deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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
626818013	Carnitine palmitoyltransferase II deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character case insensitive (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
626818013	Carnitine palmitoyltransferase II deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3036673017	Carnitine palmitoyltransferase deficiency type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3036673017	Carnitine palmitoyltransferase deficiency type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3382711001000116	Carnitin-Palmitoyl-Transferase II-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
993071000172115	CPT2 - carnitine palmitoyltransferase II deficiency	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996201000172114	déficit en carnitine palmitoyltransférase II	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
993071000172115	CPT2 - carnitine palmitoyltransferase II deficiency	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996201000172114	déficit en carnitine palmitoyltransférase II	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382711001000116	Carnitin-Palmitoyl-Transferase II-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module