Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3314993016 | Autosomal recessive spastic paraplegia type 39 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314994010 | Autosomal recessive spastic paraplegia type 39 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314995011 | Spastic paraplegia due to neuropathy target esterase mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314997015 | Spastic paraplegia due to NTE (neuropathy target esterase) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5401956018 | A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401957010 | A rare autosomal recessive complex spastic paraplegia characterised by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. | 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 39 (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 39 (disorder) | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 39 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 39 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 39 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 39 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
Autosomal recessive spastic paraplegia type 39 (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)