Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3441978014 | Autosomal dominant striatal neurodegeneration (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3441979018 | Autosomal dominant striatal neurodegeneration | en | Synonym | Active | Case insensitive | SNOMED CT core |
3441980015 | ADSD - autosomal dominant striatal neurodegeneration | en | Synonym | Active | Case sensitive | SNOMED CT core |
3441981016 | An adult-onset movement disorder with characteristics of bradykinesia, dysarthria and muscle rigidity. To date the disease has been observed in seven individuals in one family. Onset of symptoms is in the fourth to fifth decade of life with mild progressive dysarthria and hypokinesia. Dysdiadochokinesia is also present and muscle tone is slightly increased. Dysfunction and changes of the striatal part of the basal ganglia are visible on magnetic resonance imaging. Caused by mutation in the PDE8B gene (5q13.3-q14.1) and transmitted in an autosomal dominant manner with complete penetrance in the investigated family. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal dominant striatal neurodegeneration | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Autosomal dominant striatal neurodegeneration | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
Autosomal dominant striatal neurodegeneration | Interprets | Movement | true | Inferred relationship | Some | 3 | |
Autosomal dominant striatal neurodegeneration | Has interpretation | Slow | true | Inferred relationship | Some | 3 | |
Autosomal dominant striatal neurodegeneration | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Autosomal dominant striatal neurodegeneration | Is a | Parkinsonism | true | Inferred relationship | Some | ||
Autosomal dominant striatal neurodegeneration | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Autosomal dominant striatal neurodegeneration | Is a | Cerebral degeneration | true | Inferred relationship | Some | ||
Autosomal dominant striatal neurodegeneration | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Autosomal dominant striatal neurodegeneration | Finding site | Corpus striatum structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set