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 |
3314996012 | This syndrome has characteristics of progressive spastic paraplegia and distal muscle wasting. So far, it has been described in two families. All affected individuals carried mutations in the neuropathy target esterase (NTE) gene, encoding a neural membrane protein. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3900221000052115 | autosomalt recessiv spastisk paraplegi, typ 39 | 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 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 (morphologic 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 |
This concept is not in any reference sets