polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	syndroom van partiële monosomie 9q	verstandelijke beperking
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9q31.1q31.3-microdeletiesyndroom (aandoening)
	9q31.1q31.3-microdeletiesyndroom
	9q31.1-q31.3-microdeletiesyndroom syndroom van 9q31.1-q31.3-microdeletie syndroom van 9q31.1q31.3-microdeletie monosomie 9q31.1-q31.3 monosomie 9q31.1q31.3
	9q31.1q31.3 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.

Id	773493002
Status	Primitive

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 9
Occurrence	congenitaal

Associated morphology	morfologische afwijking
Finding site	structuur van aangezicht
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	deletie van lange arm
Finding site	chromosomenpaar 9
Occurrence	congenitaal

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q93.5
Term	Overige deleties van deel van chromosoom

SNOMED CT to Orphanet simple map

401923

SNOMED CT to ICD-10 extended map

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