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 |
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