Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4674029012 | Autosomal recessive spastic paraplegia type 77 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4674030019 | Autosomal recessive spastic paraplegia type 77 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399630011 | Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399631010 | Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterised by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive spastic paraplegia type 77 | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 77 | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 77 | Finding site | Lower limb structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 77 | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 77 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 77 | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal recessive spastic paraplegia type 77 | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 77 | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
| Autosomal recessive spastic paraplegia type 77 | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
| Autosomal recessive spastic paraplegia type 77 | Has interpretation | Absent | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR