Alagille syndrome
ICD-10 Q44.71 is a billable code used to indicate a diagnosis of alagille syndrome.
Alagille syndrome is a genetic disorder characterized by a range of congenital malformations, particularly affecting the liver, heart, and skeletal system. It is caused by mutations in the JAG1 or NOTCH2 genes, leading to a spectrum of clinical manifestations. One of the hallmark features of Alagille syndrome is the presence of bile duct paucity, which can result in cholestasis and liver dysfunction. Patients may also exhibit cardiac defects, such as pulmonary stenosis or ventricular septal defects, and skeletal anomalies, including butterfly vertebrae. In addition to these primary features, individuals with Alagille syndrome may present with gastrointestinal malformations, such as esophageal atresia, Hirschsprung disease, and imperforate anus, which complicate their clinical management. The diagnosis is often made based on clinical criteria, including the presence of characteristic features and genetic testing. Early recognition and multidisciplinary management are crucial for optimizing outcomes in affected individuals.
Detailed documentation of growth parameters, developmental milestones, and specific congenital anomalies present in the patient.
Management of a newborn with Alagille syndrome presenting with jaundice and feeding difficulties due to esophageal atresia.
Pediatric coders must ensure that all congenital anomalies are documented and coded accurately, as they may impact treatment and prognosis.
Genetic testing results, family history, and detailed clinical findings related to the genetic condition.
Genetic counseling for families with a history of Alagille syndrome, including discussions about recurrence risks and management options.
Genetic coders should focus on the implications of genetic findings and ensure that all relevant codes are linked to the genetic diagnosis.
Used in conjunction with Q44.71 when a patient with Alagille syndrome undergoes surgical repair of esophageal atresia.
Surgical notes detailing the procedure and indication for surgery.
Pediatric surgeons should ensure that the diagnosis of Alagille syndrome is clearly documented to support the surgical intervention.
Common congenital anomalies associated with Alagille syndrome include esophageal atresia, Hirschsprung disease, imperforate anus, and cardiac defects such as pulmonary stenosis. Accurate coding requires documentation of all present anomalies.
