autosomaal dominante idiopathische familiaire dystonie
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primaire dystonie type 4 (aandoening)
primaire dystonie type 4
primaire dystonie type DYT4
Primary dystonia type 4
Primary dystonia DYT4 type
Hereditary whispering dysphonia
DYT4 type primary dystonia has characteristics of predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). So far, the disease has been reported in one large Australian family. The age of onset varies from 13 to 37 years. The locus for DYT4 remains unknown. The disease is transmitted in an autosomal dominant manner.
Id719276005
StatusPrimitive
Finding sitestructuur van extrapiramidaal systeem
InterpretsMovement
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG24.1
TermIdiopathische familiale dystonie
SNOMED CT to Orphanet simple map98805
SNOMED CT to ICD-10 extended map
TargetG24.1
RuleTRUE
AdviceALWAYS G24.1
CorrelationSNOMED CT source code to target map code correlation not specified