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
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 map238750
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified