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syndroom van 19p13.3-microduplicatie (aandoening)
syndroom van 19p13.3-microduplicatie
microduplicatie van chromosoom 19p13.3
19p13.3-microduplicatiesyndroom
19p13.3 microduplication syndrome
A rare genetic syndromic intellectual disability with characteristics of intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability and mild dysmorphic features.
Id1229883008
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 19
Occurrencecongenitaal
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map447980
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified