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syndroom van blefarofimose, epicanthus inversus en ptosis plus (aandoening)
syndroom van blefarofimose, epicanthus inversus en ptosis plus
3q23-microdeletiesyndroom
Blepharophimosis epicanthus inversus ptosis syndrome plus
BPES plus - blepharophimosis epicanthus inversus ptosis syndrome plus
3q23 microdeletion syndrome
Blepharophimosis epicanthus inversus ptosis due to 3q23 microdeletion is a form of blepharophimosis epicanthus inversus ptosis syndrome (BPES), which in addition to the classical eyelids features of BPES, presents with genitourinary anomalies, spastic diplegia and speech delay.
Id890180006
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 3
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 3
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified