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hypomandibulaire faciocraniële dysostose (aandoening)
hypomandibulaire faciocraniële dysostose
Hypomandibular faciocranial dysostosis
A cranial malformation with characteristics of facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. An autosomal recessive mode of inheritance has been suggested.
Id721845005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ75.4
RuleTRUE
AdviceALWAYS Q75.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified