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syndroom van degeneratie van basale ganglia beginnend op kinderleeftijd (aandoening)
syndroom van degeneratie van basale ganglia beginnend op kinderleeftijd
Childhood-onset basal ganglia degeneration syndrome
Lenk Ploski syndrome
A rare genetic neurodegenerative disease with characteristics of sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.
Id1172584005
StatusPrimitive
Clinical courseprogressief
InterpretsMovement
SNOMED CT to Orphanet simple map497906
SNOMED CT to ICD-10 extended map
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified