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1q44-microdeletiesyndroom (aandoening)
1q44-microdeletiesyndroom
1q44 microdeletion syndrome
Monosomy 1q44
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
Id719649004
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 1
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map238769
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified