deletie van gedeelte van korte arm van chromosoom 20	malformatiesyndroom met betrokkenheid van meerdere systemen
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20p12.3-microdeletiesyndroom (aandoening)
	20p12.3-microdeletiesyndroom
	20p12.3 microdeletion syndrome
	Monosomy 20p12.3
	20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.

Id	719650004
Status	Primitive

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

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 20
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

261295

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