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autosomaal recessieve progressieve externe oftalmoplegie (aandoening)
autosomaal recessieve progressieve externe oftalmoplegie
Autosomal recessive progressive external ophthalmoplegia
arPEO- autosomal recessive progressive external ophthalmoplegia
A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.
Id827117008
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetH49.4
RuleTRUE
AdviceALWAYS H49.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified