Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3424833019 | Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424834013 | Peripheral neuropathy with sensorineural hearing impairment syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424835014 | Neuropathy with hearing impairment | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424836010 | Syndrome with the association of sensorineural hearing impairment and peripheral neuropathy. It has been described in members from four generations of a Spanish family. The hearing impairment was mild and often asymmetrical. The neuropathy was demyelinating with predominantly sensory involvement but severity was variable ranging from asymptomatic individuals to patients with skin ulcers and osteomyelitis requiring amputation. Caused by mutations in the GJB3 gene (1p34). The syndrome is transmitted in an autosomal dominant manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Is a | Peripheral demyelinating neuropathy | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Is a | Hereditary peripheral neuropathy | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 2 | |
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Interprets | træk vedr. funktion | false | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Associated morphology | Demyelination | true | Inferred relationship | Some | 4 | |
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 4 | |
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR