Summative Diagnosis:
Cardiovascular phenotypes: Perimembranous and muscular ventricular septal defects (VSD), and overriding aorta.

Noncardiovascular phenotype: Short snout, micrognathia, micropthalmia, hypoplastic thymus, and hydronephrosis.

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 Codes Code Description
1300 Ventricular septal defect
1432 Overriding aortic valve
4163 Micrognathia
4174 Syndactyly
4502 Hydronephrosis
4610 DiGeorge syndrome
4877 Microphthalmia
4906 Non-cardiac abnormality