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 |
3451063010 | Spastic paraplegia with Paget disease of bone syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3451064016 | Spastic paraplegia with Paget disease of bone syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3451065015 | An extremely rare, complex form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Mutations in the VCP gene (9p13.3), encoding transitional endoplasmic reticulum ATPase, have been found to be causative for this disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4001721000052111 | syndrom med spastisk paraplegi och Pagets bensjukdom | sv | Synonym (core metadata concept) | Active | Only initial character 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 with Paget disease of bone syndrome (disorder) | Is a | Osteitis deformans | true | Inferred relationship | Some | ||
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Is a | Complicated hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 3 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Associated morphology | degeneration | false | Inferred relationship | Some | 4 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 4 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 4 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Associated morphology | degeneration | false | Inferred relationship | Some | 1 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 1 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Associated morphology | Degenerative abnormality (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Is a | Chronic disease of musculoskeletal system | true | Inferred relationship | Some | ||
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Is a | Autosomal dominant hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 1 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Associated morphology | Degenerative abnormality (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 7 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 5 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 6 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 1 | |
Spastic paraplegia with Paget disease of bone syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 1 | |
Spastic paraplegia with Paget disease of bone 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