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syndroom van 3q26-microduplicatie (aandoening)
syndroom van 3q26-microduplicatie
3q26-microduplicatiesyndroom
3q26 microduplication syndrome
Trisomy 3q26
A rare chromosomal anomaly with characteristics of prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.
Id778073001
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 3
Occurrencecongenitaal
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 map96095
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified