Congenital blepharophimosis
Congenital deformity of face
Deformity of eyelid
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
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Blepharophimosis, intellectual disability syndrome (disorder)
Blepharophimosis, intellectual disability syndrome
syndroom van blefarofimose en verstandelijke beperking
blefarofimose-mentaleretardatiesyndroom
syndroom van blefarostenose en verstandelijke handicap
BMRS
syndroom van blefarofimose en mentale retardatie
Id788584007
StatusPrimitive
Associated morphologyNarrowed structure
Finding siteStructure of palpebral fissure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDeformity
Finding siteEyelid structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
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Blepharophimosis, intellectual disability syndrome, Verloes type
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
Ohdo syndrome, Maat-Kievit-Brunner type
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant