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 |
3426268013 | Autosomal recessive spastic paraplegia type 46 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3426269017 | Autosomal recessive spastic paraplegia type 46 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
6152731000146112 | autosomaal recessieve spastische paraplegie type 46 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6152741000146116 | autosomaal recessieve spastische paraplegie type 46 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6700801000146113 | SPG46 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3426270016 | A rare complex type of hereditary spastic paraplegia with onset, in infancy or childhood of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. Caused by mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive spastic paraplegia type 46 (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 46 (disorder) | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 46 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 46 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 46 (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 46 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
Autosomal recessive spastic paraplegia type 46 (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets