Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3307330014 | Spinocerebellar ataxia type 15/16 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3307331013 | Spinocerebellar ataxia type 15/16 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3307333011 | A rare subtype of type 1 autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia, tremor and cognitive impairment. Prevalence is unknown. Fewer than 80 patients affected by the disease have been identified to date. Age of onset is from 20 to 66 years. Genetic testing has shown that patients originally classified under SCA15 and SCA16 have the same subtype caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 ITPR1 gene (3p26.1). Prognosis is generally good and life-shortening events do not usually occur. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
911001000172113 | SCA15/16 - spinocerebellar ataxia type 15/16 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1002291000172112 | ataxie spinocérébelleuse type 15/16 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spinocerebellar ataxia type 15/16 (disorder) | Is a | Spinocerebellar ataxia type 1 (disorder) | false | Inferred relationship | Some | ||
Spinocerebellar ataxia type 15/16 (disorder) | Associated morphology | dégénérescence | false | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 15/16 (disorder) | Associated morphology | dégénérescence | false | Inferred relationship | Some | 3 | |
Spinocerebellar ataxia type 15/16 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 15/16 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
Spinocerebellar ataxia type 15/16 (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Spinocerebellar ataxia type 15/16 (disorder) | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
Spinocerebellar ataxia type 15/16 (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
Spinocerebellar ataxia type 15/16 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Spinocerebellar ataxia type 15/16 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 15/16 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Spinocerebellar ataxia type 15/16 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets