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syndroom van distale 7q11.23-microduplicatie (aandoening)
syndroom van distale 7q11.23-microduplicatie
distale 7q11.23-microduplicatie
Distal 7q11.23 microduplication syndrome
Distal trisomy 7q11.23
A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.
Id773325004
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 7
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 map261102
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified