Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3428338014 | Kufor Rakeb syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3428339018 | Kufor Rakeb syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3428340016 | PARK9 - Parkinson disease 9 | en | Synonym | Active | Case sensitive | SNOMED CT core |
3428341017 | Parkinson disease 9 | en | Synonym | Active | Case sensitive | SNOMED CT core |
3428342012 | A rare genetic neurodegenerative disorder with characteristics of juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy and cognitive impairment. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene encoding a lysosomal type 5 ATPase, on chromosome 1p36. Some patients have neuroradiological evidence of iron deposition in the basal ganglia. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Kufor Rakeb syndrome | Interprets | Movement | true | Inferred relationship | Some | 3 | |
Kufor Rakeb syndrome | Has interpretation | Slow | true | Inferred relationship | Some | 3 | |
Kufor Rakeb syndrome | Is a | Parkinsonism | true | Inferred relationship | Some | ||
Kufor Rakeb syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Kufor Rakeb syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Kufor Rakeb syndrome | Finding site | Basal ganglion 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