malformatiesyndroom met betrokkenheid van meerdere systemen
partiële deletie van lange arm van chromosoom 14
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14q12-microdeletiesyndroom (aandoening)
14q12-microdeletiesyndroom
14q12 microdeletion syndrome
Monosomy 14q12
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
Id719574007
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 14
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële monosomie
Finding sitestructuur van lange arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map261144
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified