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syndroom van mandibulofaciale dysostose, macroblepharon en macrostomie (aandoening)
syndroom van mandibulofaciale dysostose, macroblepharon en macrostomie
syndroom van dysostosis mandibulofacialis, macroblepharon en macrostomie
syndroom van macroblepharon, ectropion, hypertelorisme en macrostomie
syndroom van mandibulofaciale dysostosis, te ruime oogspleet en abnormaal grote mondomvang
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome
Macroblepharon, ectropion, hypertelorism, macrostomia syndrome
A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma.
Id773557002
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van os sphenoidale
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van bot van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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