Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3318112017 | X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318113010 | X-linked hereditary sensory and autonomic neuropathy with deafness | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318114016 | X-linked auditory neuropathy with peripheral sensory neuropathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318115015 | X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318846019 | This syndrome has characteristics of axonal sensory and autonomic neuropathy with hearing loss. It has been described in a large five-generation Chinese family. Onset occurred in the second decade of life with mild to severe hearing impairment due to degeneration of the auditory nerve, followed by late-onset of a diffuse and progressive peripheral sensory neuropathy. The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3. Transmission was X-linked recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 939751000172115 | NHSA (neuropathie héréditaire sensitive et autonomique) avec surdité liée à l'X | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1012051000172112 | neuropathie héréditaire sensitive et autonomique liée à l'X avec surdité | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Is a | Hereditary sensory and autonomic neuropathy | true | Inferred relationship | Some | ||
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 2 | |
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 | |
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Finding site | Autonomic nervous system structure | true | Inferred relationship | Some | 4 | |
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 1 | |
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 1 | |
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 5 | |
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR