Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5305753014 | Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5305754015 | PUM1-related cerebellar ataxia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5305755019 | Pumilio RNA binding family member 1-related cerebellar ataxia | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5305756018 | Adult-onset spinocerebellar ataxia type 47 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5305757010 | Adult-onset SCA47 (spinocerebellar ataxia type 47) | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5305758017 | A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
| Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | Is a | Chronic disorder of spinal cord (disorder) | true | Inferred relationship | Some | ||
| Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 2 | |
| Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR