congenitale afwijking
syndroom van distale monosomie 3p
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3p25.3-deletiesyndroom (aandoening)
3p25.3-deletiesyndroom
3p25.3DS
3p25.3-microdeletiesyndroom
3p25.3 deletion syndrome
3p25.3 microdeletion syndrome
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
Id890123006
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 3
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydeletie van korte arm van chromosoom
Finding sitechromosomenpaar 3
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map435638
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified