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 |
| 3426259011 | Autosomal dominant spastic paraplegia type 4 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3426260018 | Autosomal dominant spastic paraplegia type 4 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6148211000146112 | autosomaal dominante spastische paraplegie type 4 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6148221000146119 | autosomaal dominante spastische paraplegie type 4 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6699891000146115 | SPG4 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3426261019 | A form of hereditary spastic paraplegia with high intrafamilial clinical variability. Characterized in most cases as a pure phenotype with an adult onset (mainly the third to fifth decade of life, but that can present at any age) with progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Caused by mutations in the SPAST gene (2p24-p21), encoding spastin. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3426262014 | A form of hereditary spastic paraplegia with high intrafamilial clinical variability. Characterised in most cases as a pure phenotype with an adult onset (mainly the third to fifth decade of life, but that can present at any age) with progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Caused by mutations in the SPAST gene (2p24-p21), encoding spastin. | 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 4 (disorder) | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 4 (disorder) | Is a | Hereditary spastic paraplegia | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 4 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 4 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 4 (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Is a | Autosomal dominant hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 4 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 4 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
| Autosomal dominant spastic paraplegia type 4 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 4 (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