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 |
| 3426280017 | Autosomal recessive spastic paraplegia type 57 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3426281018 | Autosomal recessive spastic paraplegia type 57 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3426282013 | Spastic paraplegia due to partial TFG deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3426283015 | An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. | 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 57 (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 57 (disorder) | Is a | Complicated hereditary spastic paraplegia | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 57 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 57 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 57 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Associated morphology | Primary atrophy | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Finding site | Optic nerve structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Is a | SPOAN and SPOAN-related disorder | true | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 57 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Finding site | Optic nerve structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 5 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 6 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 7 | |
| Autosomal recessive spastic paraplegia type 57 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 57 (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