Deletion of part of long arm of chromosome 20	Genetic disease	Intellectual disability	Multiple malformation syndrome with facial-limb defects as major feature
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20q11.2 microdeletion syndrome (disorder)
	20q11.2 microdeletion syndrome
	A rare genetic syndromic intellectual disability with characteristics of psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition) and craniofacial dysmorphism. Associated prenatal growth retardation and gastrointestinal, heart and eye anomalies have been reported.

Id	1229891004
Status	Primitive

Associated morphology	Partial monosomy
Finding site	Chromosome pair 20
Occurrence	Congenital

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

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

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

ICD-10 complex map reference set

Target	Q93.5
Rule	TRUE
Advice	ALWAYS Q93.5
Correlation	SNOMED CT source code to target map code correlation not specified