congenitale anomalie van chromosomenpaar 20
malformatiesyndroom met betrokkenheid van meerdere systemen
ringchromosoom
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syndroom van ringchromosoom 20 (aandoening)
syndroom van ringchromosoom 20
ringchromosoom 20-syndroom
Ring chromosome 20 syndrome
A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems.
Id23686004
StatusDefined
Associated morphologyringchromosoom
Finding sitechromosomenpaar 20
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1444
SNOMED CT to ICD-10 extended map
TargetQ93.2
RuleTRUE
AdviceALWAYS Q93.2
CorrelationSNOMED CT source code to target map code correlation not specified