7q partial monosomy	Congenital connective tissue disorder	Congenital heart disease	Genetic disease	Multiple malformation syndrome with facial defects as major feature
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Williams syndrome (disorder)
	Williams syndrome
	Williams Beuren syndrome Monosomy 7q11.23 Deletion 7q11.23 William syndrome
	syndroom van Williams
	Williams-syndroom
	syndroom van Williams
	Aangeboren ontwikkelingsstoornis met als kenmerken een elfachtig gezicht en een verstandelijke achterstand.

Id	63247009
Status	Primitive

Associated morphology	Partial monosomy
Finding site	Long arm of chromosome
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Partial monosomy
Finding site	Chromosome pair 7
Occurrence	Congenital
Pathological process	Pathological developmental process

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

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

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

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q93.8
Rule	TRUE
Advice	ALWAYS Q93.8
Correlation	SNOMED CT source code to target map code correlation not specified