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ziekte van Huntington-achtig syndroom 1 (aandoening)
ziekte van Huntington-achtig syndroom 1
Huntington disease-like 1
HDL1
Huntington disease-like 1
Early-onset prion disease with prominent psychiatric features
HDL1 - Huntington disease-like 1
A rare genetic human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13.
Id784371009
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG10
RuleTRUE
AdviceALWAYS G10 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified