90500005: Carnitine palmitoyltransferase deficiency (disorder)

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

\Genetic disease\Hereditary disease\Inborn error of metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency (disorder)

\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency (disorder)
\Metabolic disease\Inborn error of metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency (disorder)
\Metabolic disease\Enzymopathy\Carnitine palmitoyltransferase deficiency (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency (disorder)

\Congenital disease (disorder)\Inborn error of metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency (disorder)

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	Reference Sets
149995013	Carnitine palmitoyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	Danish translated concepts reference set (foundation metadata concept)
833617017	Carnitine palmitoyltransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3814171000005117	carnitin-palmitoyltransferasemangel	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)	Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carnitine palmitoyltransferase deficiency (disorder)	Is a	Enzymopathy	true	Inferred relationship	Some
Carnitine palmitoyltransferase deficiency (disorder)	Is a	Disorder of fatty acid metabolism (disorder)	true	Inferred relationship	Some
Carnitine palmitoyltransferase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Carnitine palmitoyltransferase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Carnitine palmitoyltransferase I deficiency	Is a	True	Carnitine palmitoyltransferase deficiency (disorder)	Inferred relationship	Some
Carnitine palmitoyltransferase II deficiency	Is a	True	Carnitine palmitoyltransferase deficiency (disorder)	Inferred relationship	Some

Reference Sets

Danish translated concepts reference set (foundation metadata concept)