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syndroom van blefarofimose, epicanthus inversus en ptosis (aandoening)
syndroom van blefarofimose, epicanthus inversus en ptosis
Blepharophimosis epicanthus inversus ptosis syndrome
BPES - blepharophimosis epicanthus inversus ptosis syndrome
An ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus that can appear associated with or without premature ovarian failure. The disorder is congenital. Additional features include lacrimal duct anomalies, broad nasal bridge, low-set ears, and a short philtrum. Occurs either sporadically (de novo) or, for the eyelid phenotype, is inherited in an autosomal dominant manner with complete penetrance.
Id715391004
StatusPrimitive
Associated morphologyvernauwde structuur
Finding sitestructuur van rima palpebrarum
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ10.3
RuleTRUE
AdviceALWAYS Q10.3
CorrelationSNOMED CT source code to target map code correlation not specified
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