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syndroom van ringchromosoom 8 (aandoening)
syndroom van ringchromosoom 8
ringchromosoom 8-syndroom
Ring chromosome 8 syndrome
Chromosome 8 derived supernumerary ring
A rare chromosomal anomaly from a variable part of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and intellectual disability overlapping with the well-known mosaic trisomy 8 syndrome.
Id715983001
StatusDefined
Associated morphologyringchromosoom
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1450
SNOMED CT to ICD-10 extended map
TargetQ93.2
RuleTRUE
AdviceALWAYS Q93.2
CorrelationSNOMED CT source code to target map code correlation not specified