Autosomal recessive hereditary disorder	Blepharophimosis, intellectual disability syndrome	Developmental hereditary disorder	Hereditary disorder of the visual system
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Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
	Blepharophimosis, intellectual disability syndrome, Verloes type
	Blepharophimosis, intellectual disability syndrome type V
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.
	syndroom van blefarofimose en verstandelijke beperking Verloes-type
	BMRS Verloes-type BMRS type V syndroom van blefarofimose en mentale retardatie type V

Id	778009001
Status	Primitive

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

Associated morphology	Deformity
Finding site	Eyelid structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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