Autosomal dominant hereditary disorder	Deletion of part of long arm of chromosome 3	Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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3q27.3 microdeletion syndrome (disorder)
	3q27.3 microdeletion syndrome
	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.
	3q27.3-microdeletiesyndroom

Id	770719004
Status	Primitive

Associated morphology	Partial monosomy
Finding site	Chromosome pair 3
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	Partial monosomy
Finding site	Long 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