Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5159685018 | Non-syndromic genetic deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159686017 | Non-syndromic genetic hearing loss | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159687014 | Non-syndromic genetic hearing loss (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159688016 | Isolated genetic hearing loss | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5159689012 | Isolated genetic deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400434016 | Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Non-syndromic genetic hearing loss | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| Non-syndromic genetic hearing loss | Is a | Hearing loss | true | Inferred relationship | Some | ||
| Non-syndromic genetic hearing loss | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Non-syndromic genetic hearing loss | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 | |
| Non-syndromic genetic hearing loss | Interprets | Hearing | true | Inferred relationship | Some | 1 | |
| Non-syndromic genetic hearing loss | Has interpretation | Decreased | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Postlingual non-syndromic genetic deafness | Is a | True | Non-syndromic genetic hearing loss | Inferred relationship | Some | |
| Prelingual non-syndromic genetic deafness (disorder) | Is a | True | Non-syndromic genetic hearing loss | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR