Summative Diagnosis:
Cardiovascular Phenotype: Heterotaxy and complex congenital heart disease including persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), hypoplastic pulmonary artery, premature closure of the ductus arteriosus/ductus aplasia, atrioventricular septal defect (AVSD), mesocardia, right atrial isomerism, left atrial isomerism, aortic arch anomalies including right aortic arch (RAA) and vascular ring
Noncardiovascular Phenotype: Anophthalmia, facial cleft and cleft lip, short snout, narrow snout, preaxial digit duplication, tracheoesophageal fistula (TEF), dilated esophagus, hypoplastic spleen, cystic kidneys, and situs anomalies including left lung isomerism, dextrogastria, and midline inferior vena cava (IVC)

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
0140 Mesocardia
0190 Heterotaxy syndrome
0500 Truncus arteriosus
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
2700 Abnormal aortic arch
2720 Right aortic arch
2760 Vascular ring
2810 Inferior vena cava anomaly
3804 Congenital heart disease
4103 Polydactyly
4202 Tracheoesophageal fistula
4239 Left bronchial isomerism
4401 Cleft palate and cleft lip
4864 Anophthalmia
4875 Cleft lip
4876 Cleft palate
4906 Non-cardiac abnormality