deletie van gedeelte van korte arm van chromosoom 16
malformatiesyndroom met betrokkenheid van meerdere systemen
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16p13.11-microdeletiesyndroom (aandoening)
16p13.11-microdeletiesyndroom
16p13.11 microdeletion syndrome
Monosomy 16p13.11
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
Id
719577000
Status
Primitive
Associated morphology
partiƫle monosomie
Finding site
chromosomenpaar 16
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Associated morphology
partiƫle monosomie
Finding site
structuur van korte arm van chromosoom
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
Target
Q93.5
Term
Overige deleties van deel van chromosoom
SNOMED CT to Orphanet simple map
261236
SNOMED CT to ICD-10 extended map
Target
Q93.5
Rule
TRUE
Advice
ALWAYS Q93.5
Correlation
SNOMED CT source code to target map code correlation not specified