Severe combined immunodeficiency [SCID] with reticular dysgenesis
ICD-10 D81.0 is a billable code used to indicate a diagnosis of severe combined immunodeficiency [scid] with reticular dysgenesis.
Severe combined immunodeficiency (SCID) with reticular dysgenesis is a rare genetic disorder characterized by a profound deficiency in both T-lymphocyte and B-lymphocyte function, leading to a severely compromised immune system. This condition is often caused by mutations in genes critical for lymphocyte development, particularly affecting the bone marrow's ability to produce these immune cells. Reticular dysgenesis is the most severe form of SCID, where there is a failure of hematopoiesis, resulting in the absence of all types of blood cells, including red blood cells, white blood cells, and platelets. Patients typically present in infancy with recurrent infections, failure to thrive, and may exhibit signs of severe anemia or bleeding due to thrombocytopenia. Without intervention, such as hematopoietic stem cell transplantation, affected individuals face a high risk of mortality from opportunistic infections. Early diagnosis through newborn screening and genetic testing is crucial for effective management and improving outcomes.
Detailed history of recurrent infections, growth parameters, and laboratory results.
Infants presenting with failure to thrive and recurrent infections.
Documentation must clearly outline the severity and specific immunological deficits.
Complete blood counts, bone marrow biopsy results, and genetic testing documentation.
Patients with unexplained cytopenias and recurrent infections.
Focus on hematopoietic function and the need for potential stem cell transplantation.
Used for diagnosis and monitoring of hematologic conditions in SCID patients.
Document indications for aspiration and findings.
Hematology specialists should ensure accurate coding based on findings.
Common symptoms include recurrent infections, failure to thrive, and signs of severe anemia or bleeding due to low blood cell counts.
Diagnosis is typically made through newborn screening tests, followed by genetic testing and immunological assays to confirm the absence of functional lymphocytes.
