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autosomaal recessieve myopathie beginnend op kinderleeftijd met externe oftalmoplegie (aandoening)
autosomaal recessieve myopathie beginnend op kinderleeftijd met externe oftalmoplegie
autosomaal recessieve myopathie beginnend op kinderleeftijd met externe oogspierverlamming
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.
Id787172004
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG71.8
RuleTRUE
AdviceALWAYS G71.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified