Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3318021018 | X-linked spinocerebellar ataxia type 4 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318022013 | X-linked spinocerebellar ataxia type 4 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318023015 | X-linked ataxia dementia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6177531000146117 | X-gebonden spinocerebellaire ataxie type 4 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6177541000146113 | X-gebonden ataxie-dementiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6177551000146111 | SCAX4 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6177561000146114 | X-gebonden spinocerebellaire ataxie type 4 (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3318024014 | Spinocerebellar ataxia, X-linked, type 4 has characteristics of ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked spinocerebellar ataxia type 4 (disorder) | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
| X-linked spinocerebellar ataxia type 4 (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked spinocerebellar ataxia type 4 (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
| X-linked spinocerebellar ataxia type 4 (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| X-linked spinocerebellar ataxia type 4 (disorder) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| X-linked spinocerebellar ataxia type 4 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
| X-linked spinocerebellar ataxia type 4 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
| X-linked spinocerebellar ataxia type 4 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| X-linked spinocerebellar ataxia type 4 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| X-linked spinocerebellar ataxia type 4 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| X-linked spinocerebellar ataxia type 4 (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR