malformatiesyndroom met betrokkenheid van meerdere systemen	syndroom van partiële trisomie 22q
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syndroom van 22q11.2-microduplicatie (aandoening)
	syndroom van 22q11.2-microduplicatie
	22q11.2-duplicatiesyndroom 22q11.2-microduplicatiesyndroom
	22q11.2 duplication syndrome
	Chromosome 22q11.2 duplication syndrome Chromosome 22q11.2 microduplication syndrome 22q11.2 duplication
	A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.

Id	699311001
Status	Primitive

Associated morphology	partiële trisomie
Finding site	structuur van lange arm van chromosoom
Occurrence	congenitaal

Associated morphology	partiële trisomie
Finding site	chromosomenpaar 22
Occurrence	congenitaal

Associated morphology	morfologische afwijking
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	Q92.8
Term	Overige gespecificeerde totale en partiële trisomieën van autosomen

SNOMED CT to Orphanet simple map

1727

SNOMED CT to ICD-10 extended map

Target	Q92.3
Rule	TRUE
Advice	ALWAYS Q92.3
Correlation	SNOMED CT source code to target map code correlation not specified