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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. Pure deletions have been described in less than 10 patients. Breakpoints are within 6p24-pter subtelomeric bands.
Id718688008
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 6
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
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