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 |
3315679016 | Spinocerebellar ataxia type 17 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315680018 | Spinocerebellar ataxia type 17 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315681019 | Huntington disease-like 4 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315682014 | Disease with characteristics of a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity and epilepsy. Worldwide prevalence is unknown. Fewer than 100 families have been reported to date. Clinical features overlap with many neurodegenerative syndromes and specifically Huntington disease. Caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27). Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spinocerebellar ataxia type 17 (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Spinocerebellar ataxia type 17 (disorder) | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
Spinocerebellar ataxia type 17 (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
Spinocerebellar ataxia type 17 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 17 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Spinocerebellar ataxia type 17 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 17 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
Spinocerebellar ataxia type 17 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Spinocerebellar ataxia type 17 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Spinocerebellar ataxia type 17 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets