Status: current, Primitive. Date: 31-Dec 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5159278013 | WARS2-related combined oxidative phosphorylation defect | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5159279017 | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 5159280019 | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5159281015 | Mitochondrial tryptophanyl-tRNA synthetase deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5159282010 | A rare mitochondrial oxidative phosphorylation disorder with characteristics of a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs with or without epilepsy and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional variably reported signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly and abnormal brain MRI findings among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| WARS2-related combined oxidative phosphorylation defect | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| WARS2-related combined oxidative phosphorylation defect | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| WARS2-related combined oxidative phosphorylation defect | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| WARS2-related combined oxidative phosphorylation defect | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| WARS2-related combined oxidative phosphorylation defect | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| WARS2-related combined oxidative phosphorylation defect | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| WARS2-related combined oxidative phosphorylation defect | Finding site | Structure of nervous system | true | Inferred relationship | Some | 4 | |
| WARS2-related combined oxidative phosphorylation defect | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| WARS2-related combined oxidative phosphorylation defect | Interprets | Intellectual ability | true | Inferred relationship | Some | 1 | |
| WARS2-related combined oxidative phosphorylation defect | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| WARS2-related combined oxidative phosphorylation defect | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 2 | |
| WARS2-related combined oxidative phosphorylation defect | Has interpretation | Impaired | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR