congenitale afwijking
deletie van gedeelte van lange arm van chromosoom 17
hereditaire ontwikkelingsstoornis
neurofibromatose type 1
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17q11-deletiesyndroom (aandoening)
17q11-deletiesyndroom
17q11DS
17q11 deletion syndrome
Monosomy 17q11
Neurofibromatosis type 1 microdeletion syndrome
Chromosome 17q11.2 deletion syndrome
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
Id880093002
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële monosomie
Finding sitestructuur van lange arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyneurofibromatose
Finding sitestructuur van systema nervosum
Occurrencecongenitaal
Associated morphologyneurofibromatose
Finding sitestructuur van huid
Occurrencecongenitaal
SNOMED CT to ICD-10 extended map
TargetQ85.0
RuleTRUE
AdviceALWAYS Q85.0
CorrelationSNOMED CT source code to target map code correlation not specified