Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3642110017 | Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3642111018 | Spastic paraplegia, neuropathy, poikiloderma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3642277015 | Antinolo Nieto Borrego syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3642113015 | A complex form of hereditary spastic paraplegia with characteristics of spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4135571000052118 | syndrom med spastisk paraplegi, neuropati och poikiloderma | 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 |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Is a | Complicated hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Associated morphology | degeneration | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Associated morphology | Degenerative abnormality (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Is a | Autosomal dominant hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) | Is a | Autosomal dominant complex hereditary spastic paraplegia (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets