Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302379011 | Autosomal recessive cerebelloparenchymal disorder type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302380014 | Cerebelloparenchymal disorder III | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3303324010 | SCAR2 (spinocerebellar ataxia autosomal recessive 2) | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6176381000146114 | autosomaal recessieve cerebelloparenchymale stoornis type 3 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6176391000146111 | autosomaal recessieve cerebelloparenchymale stoornis type 3 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6828131000146116 | autosomaal recessieve spinocerebellaire ataxie type 2 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Is a | Dysgenesis of the cerebellum | true | Inferred relationship | Some | ||
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Is a | Congenital non-progressive ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 3 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 4 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 4 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 5 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 3 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 4 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Clinical course | Non-progressive | true | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR