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Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome (disorder)
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.
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
Id773557002
StatusPrimitive
Associated morphologyDysplasia
Finding siteSphenoid bone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure of face
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
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