Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Dec 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5159299011 | Syndromic sensorineural hearing loss due to COXPD (combined oxidative phosphorylation defect) | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5159300015 | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159301016 | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159302011 | Syndromic sensorineural deafness due to COXPD (combined oxidative phosphorylation defect) | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5400406011 | A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400407019 | A rare mitochondrial disease characterised by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycaemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Is a | Disorder of mitochondrial respiratory chain complexes | true | Inferred relationship | Some | ||
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Interprets | Hearing | true | Inferred relationship | Some | 2 | |
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR