syndroom van frontofacionasale dysplasie (aandoening)
syndroom van frontofacionasale dysplasie
syndroom van Gollop
Gollop syndrome
Frontofacionasal dysplasia syndrome
Fronto-facio-nasal dysplasia
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.
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale misvormingen van schedel- en aangezichtsbeenderen
SNOMED CT to Orphanet simple map1791
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q75.8
CorrelationSNOMED CT source code to target map code correlation not specified