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syndroom van faciale dysmorfie, ontwikkelingsachterstand en gedragsstoornissen door 10p11.21p12.31-microdeletie (aandoening)
syndroom van faciale dysmorfie, ontwikkelingsachterstand en gedragsstoornissen door 10p11.21p12.31-microdeletie
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
10p12p11 microdeletion syndrome
Deletion 10p11.21p12.31
Monosomy 10p11.21p12.31
A rare genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.
Id783061008
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 10
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified