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22q13.3-deletiesyndroom (aandoening)
22q13.3-deletiesyndroom
monosomie 22q13.3
22q13.3 deletion syndrome
Phelan-McDermid syndrome
Monosomy 22q13
A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
Id699310000
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 22
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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 map48652
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified