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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403085019 | This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403086018 | This syndrome is characterised by the association of sensorineural hearing impairment and peripheral neuropathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Is a | Peripheral demyelinating neuropathy | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Is a | Hereditary peripheral neuropathy | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Finding site | Ear structure (body structure) | false | Inferred relationship | Some | 2 | |
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Interprets | træk vedr. funktion | false | Inferred relationship | Some | ||
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Associated morphology | Demyelination | true | Inferred relationship | Some | 4 | |
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 4 | |
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR