Autosomal recessive hereditary disorder	Congenital blepharophimosis	Congenital ptosis of upper eyelid	Congenital strabismus	Developmental hereditary disorder	Esotropia	Hereditary disorder of the visual system	Multiple malformation syndrome with facial-limb defects as major feature	Short stature disorder	Syndactyly of toes
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Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
	Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
	Frydman Cohen Karmon syndrome
	Syndrome with the association of blepharophimosis and ptosis, V-esotropia and weakness of extraocular and frontal muscles, syndactyly of the toes, short stature, prognathism, hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.
	syndroom van blefarofimose, ptose, esotropie, syndactylie en kleine gestalte
	syndroom van blefarofimose, ptosis, esotropie, syndactylie en kleine gestalte syndroom van Frydman-Cohen-Karmon

Id	717914000
Status	Primitive

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

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

Associated morphology	Congenital abnormal fusion
Finding site	Toe structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified