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syndroom van distale trisomie 18q (aandoening)
syndroom van distale trisomie 18q
distale trisomie van lange arm van chromosoom 18
telomerische duplicatie 18q
distale trisomie 18q
Distal trisomy 18q
Telomeric duplication 18q
Distal duplication 18q
A rare partial autosomal trisomy with characteristics of a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.
Id782676009
StatusPrimitive
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 18
Occurrencecongenitaal
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 map1716
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified