735422006: Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3514496011 Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3514497019 Deficiency of mitochondrial aspartyl-tRNA synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3514498012 Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

10593841000172115 déficit en synthétase mitochondriale d'aspartyl acide ribonucléique de transfert fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10593851000172118 déficit en aspartyl-ARNt synthétase mitochondriale fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4513781000172115 deficiëntie van mitochondriaal aspartyl-'transfer'-ribonucleïnezuursynthetase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4513791000172117 tekort aan mitochondriaal aspartyl-tRNA-synthetase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4513801000172116 deficiëntie van mitochondriaal aspartaat-tRNA-ligase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4513811000172118 deficiëntie van mitochondriaal aspartaat-'transfer'-ribonucleïnezuurligase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)	Due to	True	Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder)	Inferred relationship	Some	1

This concept is not in any reference sets