1187514002: Myopathic form of carnitine palmitoyltransferase II deficiency (disorder)

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

\Muscle finding\Disorder of muscle\Myopathic form of carnitine palmitoyltransferase II deficiency

\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\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Disorder of muscle\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Metabolic disease\Enzymopathy\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Myopathic form of carnitine palmitoyltransferase II deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4674057017 Myopathic form of carnitine palmitoyltransferase II deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674058010 Myopathic form of carnitine palmitoyltransferase II deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5447618010 Carnitine palmitoyl transferase II deficiency, myopathic form en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5447619019 CPT2-gene related myopathic form of carnitine palmitoyltransferase II deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myopathic form of carnitine palmitoyltransferase II deficiency	Is a	Carnitine palmitoyltransferase II deficiency	true	Inferred relationship	Some
Myopathic form of carnitine palmitoyltransferase II deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Myopathic form of carnitine palmitoyltransferase II deficiency	Is a	Disorder of muscle	true	Inferred relationship	Some
Myopathic form of carnitine palmitoyltransferase II deficiency	Finding site	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4674057017	Myopathic form of carnitine palmitoyltransferase II deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674058010	Myopathic form of carnitine palmitoyltransferase II deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5447618010	Carnitine palmitoyl transferase II deficiency, myopathic form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5447619019	CPT2-gene related myopathic form of carnitine palmitoyltransferase II deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core