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syndroom van mozaïekvorm van trisomie 16 (aandoening)
syndroom van mozaïekvorm van trisomie 16
mozaïektrisomie van chromosoom 16
mozaïcisme van trisomie 16
mozaïektrisomie 16
Mosaic trisomy 16 syndrome
Trisomy 16 mosaicism
Mosaic trisomy chromosome 16
A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations range from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (ventricular septal defect) and genital (hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.
Id764621006
StatusDefined
Associated morphologytrisomie
Finding sitechromosomenpaar 16
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologychromosomaal mozaïcisme
Finding sitechromosomenpaar 16
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1708
SNOMED CT to ICD-10 extended map
TargetQ92.1
RuleTRUE
AdviceALWAYS Q92.1
CorrelationSNOMED CT source code to target map code correlation not specified