syndroom van 16p11.2p12.2-microduplicatie (aandoening)
syndroom van 16p11.2p12.2-microduplicatie
16p11.2p12.2 microduplication syndrome
Trisomy 16p11.2p12.2
A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16. The disorder has a highly variable phenotype with typical characteristics of developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder, dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, up slanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.
Associated morphologypartiƫle trisomie
Finding sitechromosomenpaar 16
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map261204
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified