124688008: deficiëntie van tyrosine-'transfer'-ribonucleïnezuurligase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of tyrosine-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

204948013 Deficiency of tyrosyl-tRNA synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204949017 Deficiency of tyrosine-tRNA ligase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970950019 Deficiency of tyrosine-transfer ribonucleic acid ligase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2970959018 Deficiency of tyrosine-transfer ribonucleic acid ligase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6896731000146111 tyrosine-tRNA-ligasedeficiënte nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11216151000146112 deficiëntie van tyrosyl-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)

11216161000146110 deficiëntie van tyrosine-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)

11310251000146113 deficiëntie van tyrosine-'transfer'-ribonucleïnezuurligase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11310261000146111 deficiëntie van tyrosine-'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 tyrosine-tRNA ligase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of tyrosine-tRNA ligase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets