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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
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
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
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