Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3428260010 | Autosomal recessive spastic paraplegia type 55 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3428261014 | Autosomal recessive spastic paraplegia type 55 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3428262019 | A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial. | 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 55 (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 55 (disorder) | Is a | Complicated hereditary spastic paraplegia | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 55 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 55 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 55 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Associated morphology | Primary atrophy | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Finding site | Optic nerve structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Is a | SPOAN and SPOAN-related disorder | true | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 55 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Finding site | Optic nerve structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 5 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 6 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 7 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 55 (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR