Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5099042016 | Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099043014 | Lichtenstein Knorr syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5099046018 | SCAR19 - spinocerebellar ataxia, autosomal recessive 19 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5099048017 | Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099049013 | Progressive autosomal recessive ataxia, deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400277018 | A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400278011 | A rare genetic disease characterised by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 3 | |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 4 | |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 1 | |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR