Autosomal recessive hereditary disorder
Hereditary disorder of nervous system
Parkinsonism
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Kufor Rakeb syndrome (disorder)
Kufor Rakeb syndrome
PARK9 - Parkinson disease 9
Parkinson disease 9
A rare genetic neurodegenerative disorder with characteristics of juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy and cognitive impairment. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene encoding a lysosomal type 5 ATPase, on chromosome 1p36. Some patients have neuroradiological evidence of iron deposition in the basal ganglia.
Kufor-Rakeb-syndroom
syndroom van Kufor-Rakeb
Id723992000
StatusPrimitive
Finding siteBasal ganglion structure
Has interpretationSlow
InterpretsMovement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG23.0
RuleTRUE
AdviceALWAYS G23.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified