Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3755087011 | Autosomal dominant spastic paraplegia type 3 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3755088018 | Autosomal dominant spastic paraplegia type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3755089014 | Strumpell disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3755090017 | A rare pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype. Typical characteristics include childhood-onset of minimally progressive bilateral mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. Caused by heterozygous mutation in the ATL1 gene on chromosome 14q22. | 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 3 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 3 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 3 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 3 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 3 (disorder) | Is a | Autosomal dominant hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 3 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 3 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 3 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
Autosomal dominant spastic paraplegia type 3 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Autosomal dominant spastic paraplegia type 3 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 4 | |
Autosomal dominant spastic paraplegia type 3 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
Autosomal dominant spastic paraplegia type 3 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 3 (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