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X-gebonden mandibulofaciale dysostose (aandoening)
X-gebonden mandibulofaciale dysostose
X-gebonden dysostosis mandibulofacialis
X-linked mandibulofacial dysostosis
Mandibulofacial dysostosis Toriello type
An extremely rare multiple congenital abnormality syndrome that has characteristics of microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
Id719813003
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van bot van aangezicht
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