Autosomal dominant hereditary disorder	Developmental hereditary disorder	Multiple malformation syndrome with facial defects as major feature
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Edinburgh malformation syndrome (disorder)
	Edinburgh malformation syndrome
	Typus Edinburgensis
	A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.
	Edinburgh malformatiesyndroom
	typus Edinburgensis

Id	771178004
Status	Primitive

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	Q95.2
Rule	TRUE
Advice	ALWAYS Q95.2
Correlation	SNOMED CT source code to target map code correlation not specified