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8q21.11-microdeletiesyndroom (aandoening)
8q21.11-microdeletiesyndroom
8q21.11 microdeletion syndrome
Monosomy 8q21.11
8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
Id718615003
StatusPrimitive
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 8
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
SNOMED CT to Orphanet simple map284160
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified