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syndroom van frontofacionasale dysplasie (aandoening)
syndroom van frontofacionasale dysplasie
syndroom van Gollop
Gollop syndrome
Fronto-facio-nasal dysplasia
Frontofacionasal dysplasia syndrome
Rare disorder with features of multiple craniofacial anomalies; brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes. The syndrome is inherited in an autosomal recessive manner.
Id716022002
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ75.8
RuleTRUE
AdviceALWAYS Q75.8
CorrelationSNOMED CT source code to target map code correlation not specified