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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
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed.
Id890180006
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 3
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map572333
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified