Summative Diagnosis:
Cardiac phenotype: Congenital heart disease associated with heterotaxy such as doublet outlet right ventricle, atrioventricular septal defect, duplicated inferior vena cava (IVC), and hypoplastic spleen/polysplenia
Noncardiac phenotype: Cystic kidney tubular and glomerular cysts. Open eyes, micrognathia
Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0190 Heterotaxy Syndrome
0192 Polysplenia syndrome (left isomerism)
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1340 Ventricular septal defect, ECD type
2810 Inferior vena cava anomaly
3804 Congenital heart disease
3983 {A,D,D}
4163 Micrognathia
4508 Polycystic kidney disease