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. |
| Id | 719278006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G24.1 | Term | Idiopathische familiale dystonie |
|
SNOMED CT to Orphanet simple map | 98807 |
SNOMED CT to ICD-10 extended map | Target | G24.1 | Rule | TRUE | Advice | ALWAYS G24.1 | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|