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 |
5403649015 | A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403650015 | A rare, pure or complex form of hereditary spastic paraplegia typically characterised by presentation 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. | 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 | Degeneration | 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 | Degeneration | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)