Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3766832016 | SCAR6 - autosomal recessive spinocerebellar ataxia type 6 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3766833014 | Infantile-onset autosomal recessive non progressive cerebellar ataxia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3766834015 | Autosomal recessive spinocerebellar ataxia type 6 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3766835019 | Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3766836018 | Infantile-onset autosomal recessive non progressive cerebellar ataxia (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3766837010 | A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | Is a | Hereditary ataxia | true | Inferred relationship | Some | ||
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | Clinical course | Non-progressive | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR