Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3302721013 | Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3302722018 | Spinocerebellar degeneration co-occurrent with macular corneal dystrophy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3302723011 | Spastic ataxia and corneal dystrophy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3302724017 | Bedouin spastic ataxia syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3302725016 | Mousa-Al Din-Al Nassar syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3302726015 | Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Bedouin spastic ataxia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Bedouin spastic ataxia syndrome | Is a | Macular corneal dystrophy | true | Inferred relationship | Some | ||
Bedouin spastic ataxia syndrome | Is a | Spinocerebellar disease | true | Inferred relationship | Some | ||
Bedouin spastic ataxia syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Bedouin spastic ataxia syndrome | Finding site | Spinal cord structure | true | Inferred relationship | Some | 2 | |
Bedouin spastic ataxia syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
Bedouin spastic ataxia syndrome | Associated morphology | Dystrophy | true | Inferred relationship | Some | 3 | |
Bedouin spastic ataxia syndrome | Finding site | Structure of substantia propria of cornea | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set