Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3640256013 | Autosomal recessive spastic paraplegia type 5A | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3640257016 | Autosomal recessive spastic paraplegia type 5A (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3640258014 | A form of hereditary spastic paraplegia characterised by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalised muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted on brain magnetic resonance imaging in some patients. The disease is caused by homozygous or compound heterozygous mutation in the CYP7B1 gene on chromosome 8q12. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3640259018 | A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted on brain magnetic resonance imaging in some patients. The disease is caused by homozygous or compound heterozygous mutation in the CYP7B1 gene on chromosome 8q12. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive spastic paraplegia type 5A | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 5A | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 5A | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 5A | Finding site | Structure of lower limb | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 5A | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal recessive spastic paraplegia type 5A | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 5A | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 5 | |
| Autosomal recessive spastic paraplegia type 5A | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
| Autosomal recessive spastic paraplegia type 5A | Has interpretation | Absent | true | Inferred relationship | Some | 4 | |
| Autosomal recessive spastic paraplegia type 5A | Is a | Hereditary spastic paraplegia | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 5A | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 5A | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 5A | Finding site | Structure of lower limb | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 5A | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 5A | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 5A | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR