autosomaal dominante hereditaire aandoening	deletie van gedeelte van lange arm van chromosoom 3	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen
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3q29-microdeletiesyndroom (aandoening)
	3q29-microdeletiesyndroom
	3q-subtelomerisch deletiesyndroom 3qter-deletie monosomie 3q29 monosomie 3qter
	3q29 microdeletion syndrome
	Monosomy 3q29 3q subtelomere deletion syndrome
	A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

Id	716456000
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 3
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

65286

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