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syndroom van distale 7q11.23-microdeletie (aandoening)
syndroom van distale 7q11.23-microdeletie
syndroom van distale microdeletie van chromosoom 7 (7q11.23-)
syndroom van distale microdeletie van chromosoom 7 (7q11.23)
Distal 7q11.23 microdeletion syndrome
Distal monosomy 7q11.23
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).
Id770905005
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 7
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map254351
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified