Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5145798016 | Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5145799012 | Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5145800011 | Combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5145801010 | Combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400368011 | A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400369015 | A rare genetic disease characterised by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalised cerebral atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Is a | Disorder of the peripheral nervous system | true | Inferred relationship | Some | ||
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 4 | |
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 5 | |
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 3 | |
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Is a | Type 1 diabetes mellitus | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR