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 |
| 5400841016 | A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400842011 | A rare autosomal recessive cerebellar ataxia characterised by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. | 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 | Degeneration | 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 | Developmental anomaly | 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 | Degeneration | 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
Component annotation with string value reference set (foundation metadata concept)
FHIR