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17q11.2-microduplicatiesyndroom (aandoening)
17q11.2-microduplicatiesyndroom
trisomie 17q11.2
syndroom van Grisart-Destrée
17q11.2 microduplication syndrome
Trisomy 17q11.2
Grisart Destree syndrome
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
Id719583002
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ92.3
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map139474
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified