238003000: Carnitine acylcarnitine translocase 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 acylcarnitine translocase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Carnitine acylcarnitine translocase deficiency

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Carnitine acylcarnitine translocase deficiency

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

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 acylcarnitine translocase deficiency	Is a	Disorder of fatty acid metabolism (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Carnitine acylcarnitine translocase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Carnitine acylcarnitine translocase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Carnitine acylcarnitine translocase deficiency	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
356730018	Carnitine acylcarnitine translocase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626819017	Carnitine acylcarnitine translocase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356730018	Carnitine acylcarnitine translocase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356730018	Carnitine acylcarnitine translocase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626819017	Carnitine acylcarnitine translocase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626819017	Carnitine acylcarnitine translocase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3395841001000117	Carnitin-Acylcarnitin-Translokase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960681000172117	déficit en carnitine-acylcarnitine translocase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990731000172110	déficit en CACT (carnitine-acylcarnitine translocase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960681000172117	déficit en carnitine-acylcarnitine translocase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990731000172110	déficit en CACT (carnitine-acylcarnitine translocase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395841001000117	Carnitin-Acylcarnitin-Translokase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module