syndroom van partiële monosomie 8p
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8p23.1-microdeletiesyndroom (aandoening)
8p23.1-microdeletiesyndroom
8p23.1 microdeletion syndrome
Monosomy 8p23.1
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
Id716381003
StatusPrimitive
Associated morphologydeletie van korte arm van chromosoom
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 8
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
SNOMED CT to Orphanet simple map251071
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified