|
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
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