9q partial monosomy syndrome	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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9q31.1q31.3 microdeletion syndrome (disorder)
	9q31.1q31.3 microdeletion syndrome
	Monosomy 9q31.1q31.3
	A rare genetic syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.
	9q31.1q31.3-microdeletiesyndroom
	syndroom van 9q31.1-q31.3-microdeletie syndroom van 9q31.1q31.3-microdeletie monosomie 9q31.1-q31.3 monosomie 9q31.1q31.3 9q31.1-q31.3-microdeletiesyndroom

Id	773493002
Status	Primitive

Associated morphology	Partial monosomy
Finding site	Chromosome pair 9
Occurrence	Congenital

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

Associated morphology	Deletion of long arm
Finding site	Chromosome pair 9
Occurrence	Congenital

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