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2q32q33-microdeletiesyndroom (aandoening)
2q32q33-microdeletiesyndroom
Glass-syndroom
2q32q33 microdeletion syndrome
Monosomy 2q32q33
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.
Id719659003
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 2
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map251019
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified