124695004: deficiëntie van valine-'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 valine metabolism (disorder)\Deficiency of valine-tRNA ligase

\Enzymopathy\Specific enzyme deficiency\Deficiency of valine-tRNA ligase

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

204969010 Deficiency of valyl-tRNA synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204970011 Deficiency of valine-tRNA ligase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971193014 Deficiency of valine-transfer ribonucleic acid ligase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2971578016 Deficiency of valine-transfer ribonucleic acid ligase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6865161000146112 deficiëntie van valine-transfer-ribonucleïnezuurligase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6865181000146116 valine-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)

9803041000146117 deficiëntie van valine-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)

11345281000146115 deficiëntie van valine-'transfer'-ribonucleïnezuurligase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11345291000146118 deficiëntie van valyl-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)

11345301000146119 deficiëntie van valine-'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 valine-tRNA ligase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of valine-tRNA ligase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of valine-tRNA ligase	Is a	Disorder of valine metabolism (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets