congenitale anomalie van chromosomenpaar 12
malformatiesyndroom met betrokkenheid van meerdere systemen
verstandelijke beperking
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tetrasomie 12p (aandoening)
tetrasomie 12p
syndroom van Pallister-Killian
Tetrasomy 12p syndrome
Isochromosome 12p syndrome
Pallister mosaic syndrome
Killian-Teschler-Nicola syndrome
Pallister-Killian syndrome
Id9527009
StatusPrimitive
Associated morphologytetrasomie
Finding sitestructuur van korte arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologytetrasomie
Finding sitechromosomenpaar 12
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map884
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified