|||
syndroom van mozaïekvorm van trisomie 17 (aandoening)
syndroom van mozaïekvorm van trisomie 17
mozaïektrisomie van chromosoom 17
mozaïektrisomie 17
mozaïcisme van trisomie 17
Mosaic trisomy 17 syndrome
Trisomy 17 mosaicism
Mosaic trisomy chromosome 17
A rare chromosomal anomaly syndrome with a highly variable clinical presentation. The disorder has characteristics of growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.
Id764622004
StatusDefined
Associated morphologytrisomie
Finding sitechromosomenpaar 17
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologychromosomaal mozaïcisme
Finding sitechromosomenpaar 17
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1711
SNOMED CT to ICD-10 extended map
TargetQ92.1
RuleTRUE
AdviceALWAYS Q92.1
CorrelationSNOMED CT source code to target map code correlation not specified