| 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 |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G11.2 | | Term | Laat optredende cerebellaire ataxie |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
| Target | G47.4 | | Term | Narcolepsie en kataplexie |
| Target | F03 | | Term | Niet gespecificeerde dementie |
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| SNOMED CT to Orphanet simple map | 314404 |
| SNOMED CT to ICD-10 extended map | | 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 |
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