Genetic disease	Global developmental delay	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder)
	Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
	Skraban Deardorff syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, seizures, abnormal gait and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.
	syndroom van verstandelijke beperking, epileptische aanvallen, afwijkende gang en faciale dysmorfie
	syndroom van Skraban-Deardorff syndroom van mentale retardatie, convulsies, afwijkende gang en faciale dysmorfie Skraban-Deardorff-syndroom syndroom van verstandelijke handicap, insulten, afwijkend looppatroon en faciale dysmorfie

Id	1177167002
Status	Primitive

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

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified