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mandibulofaciale dysostose met alopecia (aandoening)
mandibulofaciale dysostose met alopecia
mandibulofaciale dysostose met kaalheid
MFDA
Mandibulofacial dysostosis with alopecia
MFDA - mandibulofacial dysostosis with alopecia
A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss.
Id1216943004
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van bot van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitestructuur van pilus
SNOMED CT to Orphanet simple map443995
SNOMED CT to ICD-10 extended map
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