Autosomal dominant hereditary disorder	Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	Partial trisomy of chromosome 11
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11p15.4 microduplication syndrome (disorder)
	11p15.4 microduplication syndrome
	Trisomy 11p15.4
	A rare partial autosomal trisomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.
	11p15.4-microduplicatiesyndroom
	trisomie 11p15.4

Id	770794008
Status	Primitive

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

Associated morphology	Partial trisomy
Finding site	Chromosome pair 11
Occurrence	Congenital
Pathological process	Pathological developmental process

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	Q92.3
Rule	TRUE
Advice	ALWAYS Q92.3
Correlation	SNOMED CT source code to target map code correlation not specified