Autosomal recessive hereditary disorder	Developmental hereditary disorder	Dysostosis of bone of skull	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with facial defects as major feature
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Frontofacionasal dysplasia syndrome (disorder)
	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.
	syndroom van frontofacionasale dysplasie
	syndroom van Gollop

Id	716022002
Status	Primitive

Associated morphology	Dysplasia
Finding site	Bone structure of cranium
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q75.8
Rule	TRUE
Advice	ALWAYS Q75.8
Correlation	SNOMED CT source code to target map code correlation not specified