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 |
| 3498660011 | Myoclonus, cerebellar ataxia, deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498661010 | Myoclonus, cerebellar ataxia, deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3499953014 | Syndrome with the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. So far, less than 10 cases have been reported in the literature. The hearing loss was generally diagnosed during childhood or early adulthood and the myoclonic jerks began during adolescence. Transmission appears to be autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Sensorineural hearing loss | false | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Extrapyramidal disease | true | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Myoclonic disorder | true | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| Myoclonus, cerebellar ataxia, deafness syndrome | Interprets | Functional observable | false | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Myoclonus, cerebellar ataxia, deafness syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Some | 4 | |
| Myoclonus, cerebellar ataxia, deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Myoclonus, cerebellar ataxia, deafness syndrome | Finding site | Ear structure | true | Inferred relationship | Some | 5 | |
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Is a | Disorder of ear | true | Inferred relationship | Some | ||
| Myoclonus, cerebellar ataxia, deafness syndrome | Interprets | Movement | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR