Overview
Mosaic trisomy 16 syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Cardiac anomaly
Frequent (30-79%)HP:0001627
Low birth weight
Frequent (30-79%)HP:0001518
Premature birth
Frequent (30-79%)HP:0001622
2 vessel cord
Occasional (5-29%)HP:0001195
Abnormality of the chest
Occasional (5-29%)HP:0000765
Atria septal defect
Occasional (5-29%)HP:0001631
Central nervous system disease
Occasional (5-29%)HP:0002011
Clinodactyly
Occasional (5-29%)HP:0030084
Digestive system disease
Occasional (5-29%)HP:0011024
Fused kidneys
Occasional (5-29%)HP:0000085
Hypospadias
Occasional (5-29%)HP:0000047
Large placenta
Occasional (5-29%)HP:0006267
Malformation of craniofacial shape
Occasional (5-29%)HP:0004484
PDA
Occasional (5-29%)HP:0001643
PEG-fed in infancy
Occasional (5-29%)HP:0011471
Poorly developed lungs
Occasional (5-29%)HP:0002089
Psychomotor development deficiency
Occasional (5-29%)HP:0001263
Speech difficulties
Occasional (5-29%)HP:0000750
Syndactyly
Occasional (5-29%)HP:0001159
Uneven or disproportionate growth of one body part compared to another
Occasional (5-29%)HP:0100555
Urogenital abnormalities
Occasional (5-29%)HP:0000119
VSD
Occasional (5-29%)HP:0001629
Abnormal ear morphology
Very rare (1-4%)HP:0031703
Abnormal eye morphology
Very rare (1-4%)HP:0012372
Anteriorly displaced anus
Very rare (1-4%)HP:0001545
Aortic coarctation
Very rare (1-4%)HP:0001680
Cervical vertebral anomalies
Very rare (1-4%)HP:0003319
Deafness
Very rare (1-4%)HP:0000365
Epilepsy
Very rare (1-4%)HP:0001250
Quick Facts
- SNOMED CT
- 764621006
- UMLS CUI
- C4707009
- Fully Specified Name
- Mosaic trisomy 16 syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.