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syndroom van X-gebonden parkinsonisme met spasticiteit (aandoening)
syndroom van X-gebonden parkinsonisme met spasticiteit
XPDS
X-gebonden parkinsonisme-spasticiteit-syndroom
X-linked parkinsonism with spasticity syndrome
XPDS - X-linked parkinsonism with spasticity syndrome
A rare genetic neurological disorder with characteristics of parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. There is evidence this disease is caused by hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.
Id770757004
StatusPrimitive
Has interpretationverhoogd
Interpretsspiertonus
Has interpretationlangzaam
InterpretsMovement
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG20
TermZiekte van Parkinson
SNOMED CT to Orphanet simple map363654
SNOMED CT to ICD-10 extended map
TargetG20
RuleTRUE
AdviceALWAYS G20 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified