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 |
| 5296164014 | Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5296165010 | Adult-onset progressive leukoencephalopathy, early-onset hearing loss | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5296166011 | Adult-onset progressive leukoencephalopathy, early-onset deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5296167019 | Adult-onset progressive leucoencephalopathy, early-onset deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5296168012 | Adult-onset progressive leucoencephalopathy, early-onset hearing loss | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5296169016 | A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5296170015 | A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 3 | |
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 4 | |
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 1 | |
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 1 | |
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) | Occurrence | Adulthood | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR