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 |
3450951012 | Autosomal recessive spastic paraplegia type 63 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3450952017 | Autosomal recessive spastic paraplegia type 63 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3450953010 | An extremely rare and complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4001611000052111 | autosomalt recessiv spastisk paraplegi, typ 63 | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive spastic paraplegia type 63 (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 63 (disorder) | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 63 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 63 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 63 (disorder) | Associated morphology | degeneration | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Associated morphology | degeneration | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Associated morphology | Degenerative abnormality (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 63 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
Autosomal recessive spastic paraplegia type 63 (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets