Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4643803010 | Autosomal recessive spastic paraplegia type 78 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 4643804016 | Autosomal recessive spastic paraplegia type 78 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4643805015 | SPG78 - autosomal recessive spastic paraplegia type 78 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 4643806019 | A rare autosomal recessive complex spastic paraplegia with characteristics of mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy and cerebellar symptoms like ataxia, dysarthria and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive spastic paraplegia type 78 | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 78 | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 78 | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 78 | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 78 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 78 | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 78 | Finding site | Structure of lower limb | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 78 | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 78 | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 78 | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal recessive spastic paraplegia type 78 | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 78 | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 5 | |
| Autosomal recessive spastic paraplegia type 78 | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
| Autosomal recessive spastic paraplegia type 78 | Has interpretation | Absent | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR