deletie van korte arm van chromosoom 19
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19p13.12-microdeletiesyndroom (aandoening)
19p13.12-microdeletiesyndroom
19p13.12 microdeletion syndrome
Monosomy 19p13.12
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
Id719597005
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 19
Occurrencecongenitaal
Associated morphologydeletie van korte arm van chromosoom
Finding sitechromosomenpaar 19
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map254346
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified