Summative Diagnosis:
Cardiovascular phenotype:
Interrupted aortic arch (IAA)

Non-cardiac phenotype: Micrognathia, cleft palate, hypoplastic thymus, malaligned sternal vertebra, as well as duplex and hydronephrotic kidneys

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
1250 Interrupted aortic arch
2700 Abnormal aortic arch
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4447 Hepatic malformation
4502 Hydronephrosis
4512 Renal malformation
4876 Cleft palate