124694000: Deficiency of alanine-transfer ribonucleic acid ligase (disorder)

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

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

728423011 Deficiency of alanine-tRNA ligase (disorder) en Fully specified name 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 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 Only initial character 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

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	Existential restriction modifier (core metadata concept)
Deficiency of alanine-tRNA ligase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets