124693006: deficiëntie van lysine-'transfer'-ribonucleïnezuurligase (aandoening)

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

204963011 Deficiency of lysyl-tRNA synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204964017 Deficiency of lysine-tRNA ligase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970898012 Deficiency of lysine-transfer ribonucleic acid ligase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2971405016 Deficiency of lysine-transfer ribonucleic acid ligase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6859261000146111 lysine-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)

6918131000146116 deficiëntie van lysine-transfer-ribonucleïnezuurligase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9786881000146113 deficiëntie van lysine-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)

11308011000146116 deficiëntie van lysyl-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)

11310291000146118 deficiëntie van lysine-'transfer'-ribonucleïnezuurligase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11310301000146119 deficiëntie van lysine-'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 lysine-tRNA ligase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of lysine-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