Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403181013 | Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403182018 | Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterised by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3428338014 | Kufor Rakeb syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3428339018 | Kufor Rakeb syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3428340016 | PARK9 - Parkinson disease 9 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3428341017 | Parkinson disease 9 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. | Is a | Parkinsonism | true | Inferred relationship | Some | ||
| Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 1 | |
| Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. | Interprets | Movement | true | Inferred relationship | Some | 3 | |
| Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. | Has interpretation | Slow | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR