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syndroom van 11q22.2q22.3-microdeletie (aandoening)
syndroom van 11q22.2q22.3-microdeletie
11q22.2q22.3-microdeletiesyndroom
monosomie 11q22.2q22.3
microdeletie van chromosoom 11q22.2q22.3
11q22.2q22.3 microdeletion syndrome
Monosomy 11q22.2q22.3
A rare chromosomal anomaly with characteristics of mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.
Id1229882003
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 11
Occurrencecongenitaal
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 11
Occurrencecongenitaal
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map444002
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified