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) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 2 | |
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | est un(e) (attribut) | Peripheral demyelinating neuropathy | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | est un(e) (attribut) | Hereditary peripheral neuropathy | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 2 | |
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 3 | |
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | morphologie associée (attribut) | Demyelination | true | Inferred relationship | Some | 4 | |
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | localisation d'une constatation (attribut) | nerf périphérique (structure corporelle) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR