deletie van gedeelte van korte arm van chromosoom 6
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distale monosomie 6p (aandoening)
distale monosomie 6p
distale monosomie van korte arm van chromosoom 6
Distal monosomy 6p
Distal deletion 6p
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Id718688008
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 6
Occurrencecongenitaal
Associated morphologypartiële monosomie
Finding sitestructuur van korte arm van chromosoom
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96125
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified