Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited immunodeficiency disorder caused by mutations in the PNP gene, leading to the accumulation of toxic metabolites that impair lymphocyte function. This condition is clinically significant as it results in severe combined immunodeficiency, increasing susceptibility to infections. The ICD-10 Code D81.5 facilitates accurate diagnosis, documentation, medical billing, and public health reporting, ensuring that affected individuals receive appropriate care and management.
ICD-10 Code D81.5 represents Purine nucleoside phosphorylase (PNP) deficiency, a genetic disorder characterized by the inability to properly metabolize purine nucleosides, leading to immunodeficiency. This code should be used in clinical documentation and billing when diagnosing patients with this condition, particularly when they present with recurrent infections or other related complications.
Purine nucleoside phosphorylase (PNP) deficiency is caused by mutations in the PNP gene, leading to impaired purine metabolism and resultant immunodeficiency. The condition typically manifests in infancy or early childhood and requires prompt medical attention to prevent severe infections and complications.
ICD-10 Code D81.5 is utilized in SOAP notes to document the clinical presentation, assessment, and treatment of patients with Purine nucleoside phosphorylase deficiency. It plays a crucial role in both acute and chronic care settings, ensuring comprehensive documentation of symptoms and management strategies.
In SOAP notes, ICD-10 Code D81.5 connects subjective patient-reported symptoms and objective clinical findings to a formal diagnosis of Purine nucleoside phosphorylase deficiency. This code is essential for ensuring continuity of care, supporting accurate billing, and meeting EHR documentation standards.
Management of Purine nucleoside phosphorylase deficiency is critical to prevent severe infections and complications. Hospitalization may be necessary for severe cases.


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Learn moreICD-10 Code D81.5 is crucial for billing purposes, particularly in hospital, emergency room, or infectious disease care settings.
| CPT Code | Description |
|---|---|
| 96365 | Intravenous infusion, for therapy, prophylaxis, or diagnosis, initial hour. |
| 36415 | Collection of venous blood by venipuncture. |
| 99214 | Established patient office visit, moderate complexity. |
Common Questions About Using ICD-10 Code D81.5 for Purine nucleoside phosphorylase [PNP] deficiency
What are the common symptoms of PNP deficiency?
Common symptoms include recurrent infections, failure to thrive, and developmental delays. Patients may also exhibit lymphopenia and elevated levels of toxic metabolites.
How is PNP deficiency diagnosed?
Diagnosis is typically made through clinical evaluation, family history, and laboratory tests that assess immune function and metabolite levels.
What is the treatment for PNP deficiency?
Treatment includes intravenous immunoglobulin (IVIG) therapy, prophylactic antibiotics, and supportive care to manage symptoms and prevent infections.
Is PNP deficiency hereditary?
Yes, PNP deficiency is an autosomal recessive genetic disorder, meaning both parents must carry the mutated gene for a child to be affected.
Clinical Notes
SOAP notes
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