deletie van gedeelte van lange arm van chromosoom 3	syndroom van blefarofimose, epicanthus inversus en ptosis
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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
	3q23 microdeletion syndrome BPES (blepharophimosis epicanthus inversus ptosis syndrome) plus
	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.

Id	890180006
Status	Primitive

Associated morphology	vernauwde structuur
Finding site	structuur van rima palpebrarum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 3
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	deformiteit
Finding site	structuur van huid van epicanthus inversus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	partiële monosomie
Finding site	structuur van lange arm van chromosoom
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	neerwaartse verplaatsing
Finding site	structuur van palpebra superior
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

SNOMED CT to Orphanet simple map

572333

SNOMED CT to ICD-10 extended map

Target	Q93.5
Rule	TRUE
Advice	ALWAYS Q93.5
Correlation	SNOMED CT source code to target map code correlation not specified