Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3755578010 | Autosomal recessive spastic paraplegia type 66 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3755579019 | Autosomal recessive spastic paraplegia type 66 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3755580016 | Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive spastic paraplegia type 66 | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 66 | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 66 | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 66 | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 66 | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 66 | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 66 | Finding site | Structure of lower limb | false | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 66 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Autosomal recessive spastic paraplegia type 66 | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive spastic paraplegia type 66 | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
Autosomal recessive spastic paraplegia type 66 | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Autosomal recessive spastic paraplegia type 66 | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 2 | |
Autosomal recessive spastic paraplegia type 66 | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 5 | |
Autosomal recessive spastic paraplegia type 66 | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
Autosomal recessive spastic paraplegia type 66 | Has interpretation | Absent | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set