syndroom van partiële trisomie 8q
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syndroom van 8q12-microduplicatie (aandoening)
syndroom van 8q12-microduplicatie
8q12-microduplicatiesyndroom
8q12 microduplication syndrome
Trisomy 8q12
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.
Id
719684000
Status
Primitive
Associated morphology
partiële trisomie
Finding site
chromosomenpaar 8
Occurrence
congenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
Target
Q92.3
Term
Trisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map
228399
SNOMED CT to ICD-10 extended map
Target
Q92.3
Rule
TRUE
Advice
ALWAYS Q92.3
Correlation
SNOMED CT source code to target map code correlation not specified
