124694000: deficiëntie van alanine-'transfer'-ribonucleïnezuurligase (aandoening)

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

204966015 Deficiency of alanyl-tRNA synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204967012 Deficiency of alanine-tRNA ligase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971542014 Deficiency of alanine-transfer ribonucleic acid ligase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2971638016 Deficiency of alanine-transfer ribonucleic acid ligase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6917811000146119 alanine-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)

6917821000146112 deficiëntie van alanine-transferase-ribonucleïnezuurligase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9749811000146115 deficiëntie van alanine-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)

11235221000146112 deficiëntie van alanyl-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)

11310311000146117 deficiëntie van alanine-'transfer'-ribonucleïnezuurligase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11310321000146110 deficiëntie van alanine-'transfer'-ribonucleïnezuurligase (aandoening) nl Fully specified name 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 alanine-tRNA ligase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of alanine-tRNA ligase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets