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9p13-microdeletiesyndroom (aandoening)
9p13-microdeletiesyndroom
9p13 microdeletion syndrome
Monosomy 9p13
A rare chromosomal anomaly syndrome resulting from a partial interstitial deletion of the short arm of chromosome 9. The disease has characteristics of mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).
Id764725008
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 9
Occurrencecongenitaal
Associated morphologydeletie van korte arm van chromosoom
Finding sitechromosomenpaar 9
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 map324313
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified