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6p22-microdeletiesyndroom (aandoening)
6p22-microdeletiesyndroom
6p22 microdeletion syndrome
Monosomy 6p22
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.
Id719662000
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 6
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map251046
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified