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syndroom van 5q35-microduplicatie (aandoening)
syndroom van 5q35-microduplicatie
5q35-microduplicatiesyndroom
5q35 microduplication syndrome
Trisomy 5q35
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.
Id719665003
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 5
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ92.3
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map228415
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified