Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4637163012 | Combined oxidative phosphorylation defect type 25 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4637164018 | COXPD25 - combined oxidative phosphorylation defect type 25 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 13111891000146111 | gecombineerd defect in oxidatieve fosforylering type 25 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13111901000146112 | gecombineerd defect in OXPHOS type 25 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13111911000146114 | gecombineerd defect in oxidatieve fosforylering type 25 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13111921000146116 | COXPD25 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined oxidative phosphorylation defect type 25 (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 (disorder) | Is a | Deficiency in enzyme complexes of mitochondrial respiratory chain | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 25 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Combined oxidative phosphorylation defect type 25 (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 3 | |
| Combined oxidative phosphorylation defect type 25 (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 4 | |
| Combined oxidative phosphorylation defect type 25 (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 1 | |
| Combined oxidative phosphorylation defect type 25 (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| Combined oxidative phosphorylation defect type 25 (disorder) | Is a | Disorder of sensory function (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR