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primaire dystonie type 13 (aandoening)
primaire dystonie type 13
primaire dystonie type DYT13
Primary dystonia type 13
Primary dystonia DYT13 type
Primary dystonia with mixed phenotype
DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner.
Id719278006
StatusPrimitive
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 map98807
SNOMED CT to ICD-10 extended map
TargetG24.1
RuleTRUE
AdviceALWAYS G24.1
CorrelationSNOMED CT source code to target map code correlation not specified