Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3662725016 | X-linked non progressive cerebellar ataxia (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662726015 | X-linked non progressive cerebellar ataxia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662727012 | X-linked spinocerebellar ataxia type 5 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404671017 | X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404672012 | X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterised by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked non progressive cerebellar ataxia (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| X-linked non progressive cerebellar ataxia (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| X-linked non progressive cerebellar ataxia (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| X-linked non progressive cerebellar ataxia (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| X-linked non progressive cerebellar ataxia (disorder) | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| X-linked non progressive cerebellar ataxia (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked non progressive cerebellar ataxia (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 1 | |
| X-linked non progressive cerebellar ataxia (disorder) | Clinical course | Non-progressive | true | Inferred relationship | Some | 1 | |
| X-linked non progressive cerebellar ataxia (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
| X-linked non progressive cerebellar ataxia (disorder) | Is a | Congenital non-progressive ataxia | true | Inferred relationship | Some | ||
| X-linked non progressive cerebellar ataxia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| X-linked non progressive cerebellar ataxia (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked non progressive cerebellar ataxia (disorder) | Is a | Non-progressive cerebellar ataxia | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR