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 |
3313801017 | Spinocerebellar ataxia type 20 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3313802012 | Spinocerebellar ataxia type 20 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3313807018 | A very rare subtype of type I autosomal dominant cerebellar ataxia with cerebellar dysarthria as the initial typical manifestation. Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Age of symptomatic disease onset ranges from 19 to 64 years. Linked to chromosome 11q12.2-11q12.3. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
925891000172116 | SCA20 - spinocerebellar ataxia type 20 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
992571000172116 | ataxie spinocérébelleuse type 20 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
942611000172115 | SCA20 - spinocerebellaire ataxie type 20 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
1010361000172110 | spinocerebellaire ataxie type 20 | 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 20 (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Spinocerebellar ataxia type 20 (disorder) | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
Spinocerebellar ataxia type 20 (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
Spinocerebellar ataxia type 20 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 20 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Spinocerebellar ataxia type 20 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 20 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
Spinocerebellar ataxia type 20 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Spinocerebellar ataxia type 20 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Spinocerebellar ataxia type 20 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets