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16p12.1p12.3-triplicatiesyndroom (aandoening)
16p12.1p12.3-triplicatiesyndroom
tetrasomie 16p12.1p12.3
16p12.1p12.3 triplication syndrome
Tetrasomy 16p12.1p12.3
A rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16. The syndrome has characteristics of global developmental delay, pre or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or less commonly infantile hepatic disease. Patients are also reported to have tapered fingers.
Id1251450006
StatusPrimitive
Associated morphologytetrasomie
Finding sitestructuur van korte arm van chromosoom
Occurrencecongenitaal
Associated morphologytetrasomie
Finding sitechromosomenpaar 16
Occurrencecongenitaal
SNOMED CT to Orphanet simple map485405
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified