Autosomal dominant hereditary disorder	Deletion of part of short arm of chromosome 2	Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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2p13.2 microdeletion syndrome (disorder)
	2p13.2 microdeletion syndrome
	A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.
	2p13.2-microdeletiesyndroom

Id	770756008
Status	Primitive

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

Associated morphology	Partial monosomy
Finding site	Chromosome pair 2
Occurrence	Congenital
Pathological process	Pathological developmental process

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

DHD Diagnosis thesaurus reference set

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