malformatiesyndroom met betrokkenheid van meerdere systemen	syndroom van partiële monosomie 1q
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1q44-microdeletiesyndroom (aandoening)
	1q44-microdeletiesyndroom
	1q44 microdeletion syndrome
	Monosomy 1q44
	1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

Id	719649004
Status	Primitive

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 1
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

SNOMED CT to Orphanet simple map

DHD Diagnosis thesaurus reference set

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

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q93.5
Term	Overige deleties van deel van chromosoom