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9p13-microdeletiesyndroom (aandoening)
9p13-microdeletiesyndroom
9p13 microdeletion syndrome
Monosomy 9p13
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by 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 (e.g., 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
SNOMED CT to Orphanet simple map324313
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified