124257002: carnitine-acetyltransferasedeficiëntie (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Deficiency of carnitine acetyltransferase (disorder)

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Deficiency of carnitine acetyltransferase (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Deficiency of carnitine acetyltransferase (disorder)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of carnitine acetyltransferase (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Deficiency of carnitine acetyltransferase (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

203869019 Deficiency of carnitine acetyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727816017 Deficiency of carnitine acetyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5927271000146118 carnitine-acetyltransferasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5927281000146116 deficiëntie van carnitine-acetyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5927291000146119 carnitine-acetyltransferasedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)