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 |
| 3498421015 | Autosomal dominant familial spastic paraplegia type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498422010 | Autosomal dominant spastic paraplegia type 6 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498423017 | Autosomal dominant spastic paraplegia type 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6148691000146118 | autosomaal dominante spastische paraplegie type 6 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6148701000146118 | autosomaal dominante spastische paraplegie type 6 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6699961000146115 | SPG6 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3499916015 | A form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Caused by mutations in the NIPA1 gene (15q11.2) encoding the magnesium transporter NIPA1. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 6 (disorder) | Is a | Hereditary spastic paraplegia | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 6 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 6 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 6 (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Is a | Autosomal dominant hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 6 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 4 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 6 (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR