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2q.33.1-microdeletiesyndroom (aandoening)
2q.33.1-microdeletiesyndroom
2q33.1 microdeletion syndrome
Monosomy 2q33.1
SATB2-associated syndrome due to chromosomal rearrangement
Id763062006
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 2
Occurrencecongenitaal
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
Associated morphologyhypoplasie
Finding sitebotstructuur van mandibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map251028
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified