congenitale afwijking
syndroom van partiële monosomie 1q
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1q21.1-microdeletiesyndroom (aandoening)
1q21.1-microdeletiesyndroom
1q21.1-microdeletie
1q21.1 microdeletion
Microdeletion of chromosome 1q21.1
1q21.1 contiguous gene deletion
1q21.1 microdeletion syndrome
Chromosome 1q21.1 deletion syndrome
Id699305004
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitestructuur van lange arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 1
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map250989
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified