238003000: deficiëntie van carnitine-acylcarnitinetranslocase (aandoening)

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 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 (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine acylcarnitine translocase deficiency

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

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

5910821000146113 carnitine-acylcarnitinetranslocasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5910841000146119 CACT-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6100171000146116 deficiëntie van carnitine-acylcarnitinetranslocase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8705261000146113 deficiëntie van carnitine-acylcarnitinetranslocase (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
Carnitine acylcarnitine translocase deficiency	Is a	Disorder of fatty acid metabolism	false	Inferred relationship	Some
Carnitine acylcarnitine translocase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Carnitine acylcarnitine translocase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Carnitine acylcarnitine translocase deficiency	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Some

Inbound Relationships

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Characteristic

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This concept is not in any reference sets