polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	syndroom van partiële monosomie 8q
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8q22.1-microdeletiesyndroom (aandoening)
	8q22.1-microdeletiesyndroom
	monosomie 8q22.1 syndroom van 8q22.1-microdeletie 'Nablus mask-like facial'-syndroom
	8q22.1 microdeletion syndrome
	Nablus mask-like facial syndrome Monosomy 8q22.1
	The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.

Id	719664004
Status	Primitive

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

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 8
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	deletie van lange arm
Finding site	chromosomenpaar 8
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

178303

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