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 |
3315417015 | Spinocerebellar ataxia type 11 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315418013 | Spinocerebellar ataxia type 11 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315419017 | Disease with characteristics of early-onset cerebellar signs, eye movement abnormalities and pyramidal signs. Fifty-one clinically affected members from four families (of British, Pakistani, German and French descent) have been reported to date. The disease presents with the cerebellar signs such as dysarthria and progressive ataxia, eventually leading to difficulty walking and loss of balance as well as eye movement abnormalities (jerky pursuit, horizontal and vertical nystagmus and ophthalmoplegia). Caused by mutations in the tau tubulin kinase 2 TTBK2 gene (15q15.2). Inherited in autosomal dominant pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
887271000172114 | SCA11 - spinocerebellar ataxia type 11 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
951981000172110 | ataxie spinocérébelleuse type 11 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
877951000172118 | SCA11 - spinocerebellaire ataxie type 11 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
940291000172112 | spinocerebellaire ataxie type 11 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spinocerebellar ataxia type 11 (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Spinocerebellar ataxia type 11 (disorder) | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
Spinocerebellar ataxia type 11 (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
Spinocerebellar ataxia type 11 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 11 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Spinocerebellar ataxia type 11 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 11 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
Spinocerebellar ataxia type 11 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 11 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Spinocerebellar ataxia type 11 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets