Blepharophimosis epicanthus inversus ptosis syndrome	Deletion of part of long arm of chromosome 3
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Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder)
	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.
	syndroom van blefarofimose, epicanthus inversus en ptosis plus
	3q23-microdeletiesyndroom

Id	890180006
Status	Primitive

Associated morphology	Narrowed structure
Finding site	Structure of palpebral fissure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Partial monosomy
Finding site	Chromosome pair 3
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Deformity
Finding site	Skin structure of epicanthus inversus
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Partial monosomy
Finding site	Long arm of chromosome
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Prolapse
Finding site	Upper eyelid structure
Occurrence	Congenital
Pathological process	Pathological developmental process

ICD-10 complex map reference set

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