Summative Diagnosis:
Cardiovascular phenotypes: Hypoplastic left ventricle (LV), aortic atresia, and hypoplastic mitral, phenotypes consistent with hypoplastic left heart syndrome (HLHS).

Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic and accessory anterior lung lobes, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.


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
1811 Hypoplastic left ventricle (subnormal cavity volume)
4163 Micrognathia
4170 Hand and/or foot anomaly
4174 Syndactyly
4401 Cleft palate and cleft lip
4512 Renal malformation
4875 Cleft lip
4876 Cleft palate
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
300 Hypoplastic left heart syndrome
320 Aortic atresia
1515 Hypoplastic mitral valve