syndroom van partiële monosomie 4q
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4q21-microdeletiesyndroom (aandoening)
4q21-microdeletiesyndroom
4q21 microdeletion syndrome
Monosomy 4q21
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
Id719660008
StatusPrimitive
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 4
Occurrencecongenitaal
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 4
Occurrencecongenitaal
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified