Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3763830018 | Early-onset prion disease with prominent psychiatric features | en | Synonym | Active | Case insensitive | SNOMED CT core |
3763831019 | Huntington disease-like 1 (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3763832014 | Huntington disease-like 1 | en | Synonym | Active | Case sensitive | SNOMED CT core |
3763833016 | HDL1 - Huntington disease-like 1 | en | Synonym | Active | Case sensitive | SNOMED CT core |
3763834010 | A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. | en | Definition | Active | Case sensitive | SNOMED CT core |
3763835011 | A rare genetic human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Huntington disease-like 1 | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Huntington disease-like 1 | Is a | Huntington disease-like syndrome | true | Inferred relationship | Some | ||
Huntington disease-like 1 | Finding site | Basal ganglion structure | true | Inferred relationship | Some | 1 | |
Huntington disease-like 1 | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Huntington disease-like 1 | Is a | Cerebral degeneration | true | Inferred relationship | Some | ||
Huntington disease-like 1 | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Huntington disease-like 1 | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
Huntington disease-like 1 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Huntington disease-like 1 | Interprets | Movement | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Chorea due to Huntington disease-like 1 | Due to | True | Huntington disease-like 1 | Inferred relationship | Some | 2 |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set