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9q31.1q31.3-microdeletiesyndroom (aandoening)
9q31.1q31.3-microdeletiesyndroom
9q31.1-q31.3-microdeletiesyndroom
syndroom van 9q31.1-q31.3-microdeletie
syndroom van 9q31.1q31.3-microdeletie
monosomie 9q31.1-q31.3
monosomie 9q31.1q31.3
9q31.1q31.3 microdeletion syndrome
Monosomy 9q31.1q31.3
9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.
Id773493002
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 9
Occurrencecongenitaal
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 9
Occurrencecongenitaal
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map401923
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified