124692001: deficiëntie van isoleucine-'transfer'-ribonucleïnezuurligase (aandoening)

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

\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Disorder of isoleucine metabolism (disorder)\Deficiency of isoleucine-transfer ribonucleic acid ligase (disorder)

\Enzymopathy\Specific enzyme deficiency\Deficiency of isoleucine-transfer ribonucleic acid ligase (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

204960014 Deficiency of isoleucyl-tRNA synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204961013 Deficiency of isoleucine-tRNA ligase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970826017 Deficiency of isoleucine-transfer ribonucleic acid ligase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2971643011 Deficiency of isoleucine-transfer ribonucleic acid ligase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6851901000146117 isoleucine-tRNA-ligasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6851911000146115 deficiëntie van isoleucine-transfer-ribonucleïnezuurligase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9757351000146118 deficiëntie van isoleucine-tRNA-ligase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11274551000146115 deficiëntie van isoleucyl-tRNA-synthetase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11310271000146117 deficiëntie van isoleucine-'transfer'-ribonucleïnezuurligase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11310281000146115 deficiëntie van isoleucine-'transfer'-ribonucleïnezuurligase nl Synonym (core metadata concept) 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 isoleucine-transfer ribonucleic acid ligase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of isoleucine-transfer ribonucleic acid ligase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of isoleucine-transfer ribonucleic acid ligase (disorder)	Is a	Disorder of isoleucine metabolism (disorder)	true	Inferred relationship	Some

Inbound Relationships

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Active

Source

Characteristic

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This concept is not in any reference sets