Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3302378015 | Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3302379011 | Autosomal recessive cerebelloparenchymal disorder type 3 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3302380014 | Cerebelloparenchymal disorder III | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3303324010 | SCAR2 (spinocerebellar ataxia autosomal recessive 2) | en | Synonym | Active | Case sensitive | SNOMED CT core |
5155299019 | In this disorder cerebellar ataxia is congenital (non-progressive) and with characteristics of cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital intellectual disability and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive cerebelloparenchymal disorder type 3 | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 3 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 4 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Clinical course | Non-progressive | true | Inferred relationship | Some | 2 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive cerebelloparenchymal disorder type 3 | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
Autosomal recessive cerebelloparenchymal disorder type 3 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive cerebelloparenchymal disorder type 3 | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
Autosomal recessive cerebelloparenchymal disorder type 3 | Is a | Dysgenesis of the cerebellum | true | Inferred relationship | Some | ||
Autosomal recessive cerebelloparenchymal disorder type 3 | Is a | Congenital non-progressive ataxia | true | Inferred relationship | Some | ||
Autosomal recessive cerebelloparenchymal disorder type 3 | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Finding site | Spinal cord structure | true | Inferred relationship | Some | 3 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Finding site | Cerebellar structure | true | Inferred relationship | Some | 4 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Associated morphology | Degeneration | false | Inferred relationship | Some | 5 | |
Autosomal recessive cerebelloparenchymal disorder type 3 | Finding site | Cerebellar structure | false | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set
REPLACED BY association reference set