421784001: carnitinedeficiëntie (aandoening)

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

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Amino acid deficiency\Carnitine deficiency (disorder)

\Nutritional disorder\Nutritional deficiency disorder\Undernutrition\Deficiency of micronutrients\Amino acid deficiency\Carnitine deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2614831013 Carnitine deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2617454019 Carnitine deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7054571000146116 deficiëntie van carnitine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7054581000146119 carnitinedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8635561000146113 carnitinedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10229651000146112 Zeer zeldzame spierstofwisselingsziekte waarbij de spieren te weinig brandstof toegeleverd krijgen door een tekort aan de stof carnitine; dit kan ook gevolgen hebben voor de werking van de hersenen, de lever en de hartspier. nl Definition Active Entire term case sensitive (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 deficiency (disorder)	Is a	Amino acid deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Iatrogenic carnitine deficiency (disorder)	Is a	True	Carnitine deficiency (disorder)	Inferred relationship	Some
Muscle carnitine deficiency	Is a	True	Carnitine deficiency (disorder)	Inferred relationship	Some
Carnitine nutritional deficiency	Is a	True	Carnitine deficiency (disorder)	Inferred relationship	Some
Carnitine deficiency due to inborn error of metabolism (disorder)	Is a	True	Carnitine deficiency (disorder)	Inferred relationship	Some
Secondary carnitine deficiency	Is a	True	Carnitine deficiency (disorder)	Inferred relationship	Some
Dilated cardiomyopathy due to carnitine deficiency (disorder)	Due to	True	Carnitine deficiency (disorder)	Inferred relationship	Some	2

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)