Severe combined immunodeficiency due to adenosine deaminase deficiency
ICD-10 D81.31 is a billable code used to indicate a diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency.
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a rare genetic disorder characterized by a profound defect in both T-lymphocyte and B-lymphocyte function. This condition arises from mutations in the ADA gene, which is crucial for the breakdown of toxic metabolites in lymphocytes. The accumulation of these metabolites leads to lymphocyte apoptosis, resulting in a severely compromised immune system. Patients with ADA deficiency typically present in infancy with recurrent infections, failure to thrive, and chronic diarrhea. Without intervention, these patients are at high risk for life-threatening infections from common pathogens. Diagnosis is confirmed through enzyme activity assays and genetic testing. Treatment options include enzyme replacement therapy, hematopoietic stem cell transplantation, and gene therapy, which can restore immune function. Early diagnosis and management are critical to improving outcomes and survival rates in affected individuals.
Detailed patient history, including family history of immunodeficiency, clinical presentation, and results of laboratory tests.
Infants presenting with recurrent infections, failure to thrive, and unexplained lymphopenia.
Documentation must clearly outline the severity of the condition and the rationale for treatment choices.
Comprehensive records of hematopoietic stem cell transplant procedures, including donor information and post-transplant outcomes.
Patients undergoing stem cell transplantation for SCID.
Ensure that all related complications and follow-up care are documented.
Used for diagnosis and monitoring of hematologic conditions in patients with SCID.
Document indication for the procedure and results.
Ensure that the procedure is linked to the diagnosis of ADA deficiency.
Accurate coding of D81.31 is crucial for appropriate reimbursement, ensuring that patients receive the necessary treatments and interventions for their severe immunodeficiency.
