| syndroom van diabetes mellitus type 1 met gehoorverlies en centrale en perifere neurodegeneratie met juveniele aanvang (aandoening) | | syndroom van diabetes mellitus type 1 met gehoorverlies en centrale en perifere neurodegeneratie met juveniele aanvang | | syndroom van diabetes mellitus type 1 met gecombineerde cerebellaire en perifere ataxie en gehoorverlies
| | Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome | | Combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome
Combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome
| | 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. |
| | Id | 1255271005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 445062 |
| SNOMED CT to ICD-10 extended map | | Target | G31.8 | | Rule | TRUE | | Advice | ALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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