deletie van gedeelte van lange arm van chromosoom 20
malformatiesyndroom met betrokkenheid van meerdere systemen
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syndroom van paternale 20q13.2q13.3-microdeletie (aandoening)
syndroom van paternale 20q13.2q13.3-microdeletie
syndroom van microdeletie van chromosoom 20 (20q13.2q13.3-) bij vader
paternaal 20q13.2q13.3-microdeletiesyndroom
syndroom van microdeletie van chromosoom 20 (20q13.2q13.3) bij vader
Paternal 20q13.2q13.3 microdeletion syndrome
Paternal monosomy 20q13.2q13.3
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
Id724070005
StatusPrimitive
Associated morphologypartiële monosomie
Finding sitestructuur van lange arm van chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiële monosomie
Finding sitechromosomenpaar 20
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 map261304
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified