|||
syndroom van ringchromosoom 16 (aandoening)
syndroom van ringchromosoom 16
ringchromosoom 16-syndroom
Ring chromosome 16 syndrome
Ring chromosome 16
A rare chromosomal anomaly syndrome resulting from the partial deletion of chromosome 16, with characteristics of pre and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecanthus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.
Id763406004
StatusDefined
Associated morphologyringchromosoom
Finding sitechromosomenpaar 16
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map96178
SNOMED CT to ICD-10 extended map
TargetQ93.2
RuleTRUE
AdviceALWAYS Q93.2
CorrelationSNOMED CT source code to target map code correlation not specified