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\...

\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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\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\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency
\Metabolic disease\Disorder of organic acid metabolism\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 (disorder)\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 (disorder)\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:

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

789901000052110 brist på karnitinpalmitoyltransferas 2 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carnitine palmitoyltransferase II deficiency	Is a	Carnitine palmitoyltransferase deficiency	true	Inferred relationship	Some
Carnitine palmitoyltransferase II deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Carnitine palmitoyltransferase II deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Carnitine palmitoyltransferase II deficiency	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Some

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

This concept is not in any reference sets