Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4634472015 | Childhood-onset basal ganglia degeneration syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4634473013 | Childhood-onset basal ganglia degeneration syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4634474019 | Lenk Ploski syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
4634475018 | A rare genetic neurodegenerative disease with characteristics of sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Childhood-onset basal ganglia degeneration syndrome | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
Childhood-onset basal ganglia degeneration syndrome | Is a | Dystonia | true | Inferred relationship | Some | ||
Childhood-onset basal ganglia degeneration syndrome | Is a | Cerebral degeneration in childhood | true | Inferred relationship | Some | ||
Childhood-onset basal ganglia degeneration syndrome | Is a | Disorder of basal ganglia | true | Inferred relationship | Some | ||
Childhood-onset basal ganglia degeneration syndrome | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
Childhood-onset basal ganglia degeneration syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Childhood-onset basal ganglia degeneration syndrome | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
Childhood-onset basal ganglia degeneration syndrome | Interprets | Movement | true | Inferred relationship | Some | 3 | |
Childhood-onset basal ganglia degeneration syndrome | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
Childhood-onset basal ganglia degeneration syndrome | Finding site | Basal ganglion structure | true | Inferred relationship | Some | 1 | |
Childhood-onset basal ganglia degeneration syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set