Status: current, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4673878014 | Cataracts, motor neuropathy, short stature, skeletal anomalies syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4673879018 | Autosomal dominant spastic paraplegia type 9A | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 4673882011 | Autosomal dominant spastic paraplegia type 9A (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 4674026017 | Spastic paraparesis, amyotrophy, cataracts, gastroesophageal reflux syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4674027014 | Spastic paraparesis, amyotrophy, cataracts, gastro-oesophageal reflux syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4673883018 | A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus and occasionally short stature among others. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 4673884012 | A rare complex hereditary spastic paraplegia characterised by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastro-oesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus and occasionally short stature among others. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant spastic paraplegia type 9A | Is a | Complicated hereditary spastic paraplegia | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 9A | Is a | Autosomal dominant hereditary spastic paraplegia | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 9A | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 9A | Finding site | Structure of lower limb | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 9A | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 9A | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 9A | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal dominant spastic paraplegia type 9A | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 4 | |
| Autosomal dominant spastic paraplegia type 9A | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 5 | |
| Autosomal dominant spastic paraplegia type 9A | Interprets | Movement observable | true | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 9A | Has interpretation | Absent | true | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 9A | Is a | Autosomal dominant complex hereditary spastic paraplegia | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR