deletie van gedeelte van lange arm van chromosoom 2	malformatiesyndroom met betrokkenheid van meerdere systemen
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2q31.1-microdeletiesyndroom (aandoening)
	2q31.1-microdeletiesyndroom
	2q31.1 microdeletion syndrome
	Monosomy 2q31.1
	2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.

Id	716387004
Status	Primitive

Associated morphology	partiële monosomie
Finding site	structuur van lange arm van chromosoom
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 2
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

251014

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