735422006: deficiëntie van mitochondriaal aspartaat-'transfer'-ribonucleïnezuurligase (aandoening)

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

11215251000146112 deficiëntie van mitochondriaal aspartaat-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)

11215271000146116 tekort aan mitochondriaal aspartyl-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)

11310201000146112 deficiëntie van mitochondriaal aspartaat-'transfer'-ribonucleïnezuurligase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11310211000146114 deficiëntie van mitochondriaal aspartaat-'transfer'-ribonucleïnezuurligase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11310221000146116 deficiëntie van mitochondriaal aspartyl-'transfer'-ribonucleïnezuursynthetase 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 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