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8q22.1-microdeletiesyndroom (aandoening)
8q22.1-microdeletiesyndroom
monosomie 8q22.1
syndroom van 8q22.1-microdeletie
'Nablus mask-like facial'-syndroom
8q22.1 microdeletion syndrome
Nablus mask-like facial syndrome
Monosomy 8q22.1
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
Id719664004
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map178303
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified