Status: current, Primitive. Date: 31-Jan 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5159685018 | Non-syndromic genetic deafness | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5159686017 | Non-syndromic genetic hearing loss | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5159687014 | Non-syndromic genetic hearing loss (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5159688016 | Isolated genetic hearing loss | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5159689012 | Isolated genetic deafness | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5159690015 | 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. The majority of cases presenting at birth concern perceptive deafness (with a neurosensory origin associated with the inner ear) rather than conductive deafness (anomalies in the amplification of sound waves between the middle ear and the outer ear). | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Non-syndromic genetic hearing loss | Is a | Decreased hearing | 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 | 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 | Is a | True | Non-syndromic genetic hearing loss | Inferred relationship | Some |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR