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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403703018 | This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403704012 | This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Sensorineural hearing loss | false | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Extrapyramidal disease | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Myoclonic disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Interprets | træk vedr. funktion | false | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Finding site | Cerebellar structure | true | Inferred relationship | Some | 4 | |
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Finding site | Ear structure (body structure) | true | Inferred relationship | Some | 5 | |
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Is a | Disorder of ear | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. | Interprets | Movement | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR