Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3467555014 | Autosomal recessive spastic paraplegia type 18 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3467556010 | Autosomal recessive spastic paraplegia type 18 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3467557018 | A rare complex type of hereditary spastic paraplegia with characteristics of progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. This disease is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive spastic paraplegia type 18 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 18 | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 18 | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 18 | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Autosomal recessive spastic paraplegia type 18 | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 18 | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 5 | |
Autosomal recessive spastic paraplegia type 18 | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
Autosomal recessive spastic paraplegia type 18 | Has interpretation | Absent | true | Inferred relationship | Some | 4 | |
Autosomal recessive spastic paraplegia type 18 | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 18 | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 18 | Occurrence | Congenital | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 18 | Finding site | Structure of lower limb | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 18 | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 18 | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 18 | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 18 | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 18 | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 18 | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 18 | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 18 | Finding site | Structure of lower limb | false | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set