syndroom van autosomaal dominante cerebellaire ataxie, doofheid en narcolepsie (aandoening) | | syndroom van autosomaal dominante cerebellaire ataxie, doofheid en narcolepsie | | ADCA-DN-syndroom
| | Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome | | A polymorphic disorder with characteristics of ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Disease onset occurs in adulthood from the ages of 30-40. Mild brain atrophy with cerebellum involvement is visible with magnetic resonance imaging. Caused by a mutation in the DNA methyltransferase (DNMT1) gene located on chromosome 19p13.2. It encodes an enzyme essential for the repression of transcriptional activity in numerous postmitotic cells. |
| Id | 722293005 | Status | Primitive |
referentieset met complexe 'mapping' naar ICD-10 | Target | G11.2 | Rule | TRUE | Advice | ALWAYS G11.2 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H90.5 | Rule | TRUE | Advice | ALWAYS H90.5 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | G47.4 | Rule | TRUE | Advice | ALWAYS G47.4 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | F03 | Rule | TRUE | Advice | ALWAYS F03 | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|