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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.
Id716456000
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 3
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map65286
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified