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autosomaal dominante progressieve externe oftalmoplegie (aandoening)
autosomaal dominante progressieve externe oftalmoplegie
Autosomal dominant progressive external ophthalmoplegia
adPEO - autosomal dominant 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 skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.
Id827115000
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
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