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1260128008: Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Dec 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5159278013 WARS2-related combined oxidative phosphorylation defect en Synonym Active Entire term case sensitive SNOMED CT core module
5159279017 Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
5159280019 Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect en Synonym Active Only initial character case insensitive SNOMED CT core module
5159281015 Mitochondrial tryptophanyl-tRNA synthetase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Is a Intellectual disability true Inferred relationship Existential restriction modifier
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Is a Mitochondrial cytopathy true Inferred relationship Existential restriction modifier
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 4
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 5
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Interprets Intellectual ability true Inferred relationship Existential restriction modifier 1
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Has interpretation Impaired true Inferred relationship Existential restriction modifier 1
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 2
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Has interpretation Impaired true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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