deletie van gedeelte van lange arm van chromosoom 2	malformatiesyndroom met betrokkenheid van meerdere systemen
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2q23.1-micodeletiesyndroom (aandoening)
	2q23.1-micodeletiesyndroom
	2q23.1 microdeletion syndrome
	Monosomy 2q23.1 Pseudo-Angelman syndrome
	The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

Id	719657001
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

228402

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