Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3874254014 | X-linked progressive cerebellar ataxia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3874255010 | X-linked progressive cerebellar ataxia (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3874256011 | A rare X-linked cerebellar ataxia with characteristics of a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4488661000052112 | X-bunden progressiv cerebellär ataxi | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked progressive cerebellar ataxia | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| X-linked progressive cerebellar ataxia | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| X-linked progressive cerebellar ataxia | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| X-linked progressive cerebellar ataxia | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| X-linked progressive cerebellar ataxia | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked progressive cerebellar ataxia | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
| X-linked progressive cerebellar ataxia | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
| X-linked progressive cerebellar ataxia | 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