Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4637162019 | Combined oxidative phosphorylation defect type 25 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 4637163012 | Combined oxidative phosphorylation defect type 25 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4637164018 | COXPD25 - combined oxidative phosphorylation defect type 25 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 4637165017 | A rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activity. Characteristics of this disease hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined oxidative phosphorylation defect type 25 | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 | Is a | Deficiency in enzyme complexes of mitochondrial respiratory chain | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Combined oxidative phosphorylation defect type 25 | Finding site | Structure of nervous system | true | Inferred relationship | Some | 3 | |
| Combined oxidative phosphorylation defect type 25 | Finding site | Structure of auditory system | true | Inferred relationship | Some | 4 | |
| Combined oxidative phosphorylation defect type 25 | Interprets | Hearing | true | Inferred relationship | Some | 1 | |
| Combined oxidative phosphorylation defect type 25 | Has interpretation | Impaired | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR