| cranio-cervicale dystonie met betrokkenheid van larynx en bovenste extremiteit (aandoening) | | cranio-cervicale dystonie met betrokkenheid van larynx en bovenste extremiteit | | DYT24
cranio-cervicale dystonie met betrokkenheid van strottenhoofd en arm
dystonie type 24
| | Cranio-cervical dystonia with laryngeal and upper limb involvement | | Dystonia 24
DYT24 - dystonia 24
| | A rare genetic isolated dystonia with characteristics of a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported. Caused by heterozygous mutation in the ANO3 gene on chromosome 11p14. |
| | Id | 783179009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G24.8 | | Term | Overige gespecificeerde vormen van dystonie |
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| SNOMED CT to Orphanet simple map | 420485 |
| SNOMED CT to ICD-10 extended map | | Target | G24.8 | | Rule | TRUE | | Advice | ALWAYS G24.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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