Di George's syndrome
ICD-10 D82.1 is a billable code used to indicate a diagnosis of di george's syndrome.
Di George's syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a deletion of a small segment of chromosome 22. This condition is characterized by a range of developmental issues, including congenital heart defects, immune system deficiencies, and hypoparathyroidism. Patients often present with a variety of hematologic conditions due to the immune dysfunction associated with the syndrome. The immune deficiency can lead to increased susceptibility to infections, which may complicate the management of patients with Di George's syndrome. Additionally, patients may experience hematologic abnormalities such as thrombocytopenia or anemia, which can further complicate their clinical picture. Diagnosis is typically made through clinical evaluation and genetic testing, and management often involves a multidisciplinary approach to address the various complications associated with the syndrome, including immunologic support and surgical interventions for cardiac defects.
Detailed family history, growth and development assessments, and immunization records.
Management of congenital heart defects, recurrent infections, and developmental delays.
Documentation must reflect the multidisciplinary approach and any referrals to specialists.
Genetic testing results, family pedigree, and detailed clinical findings.
Counseling families about the genetic implications and management of Di George's syndrome.
Accurate coding requires clear documentation of the genetic basis of the condition.
Used for confirming the diagnosis of Di George's syndrome through genetic testing.
Documentation of clinical indications for testing and results.
Genetic counseling may be necessary for families.
Common complications include congenital heart defects, immune deficiencies leading to recurrent infections, hypoparathyroidism causing hypocalcemia, and developmental delays.
