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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.
Id783179009
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG24.8
RuleTRUE
AdviceALWAYS G24.8
CorrelationSNOMED CT source code to target map code correlation not specified