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Autosomal recessive progressive external ophthalmoplegia (disorder)
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.
autosomaal recessieve progressieve externe oftalmoplegie
Id827117008
StatusPrimitive
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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