ICD10 code of Primary Hyperoxaluria and ICD9 code

Primary Hyperoxaluria is classified under the ICD-10 code E72.50 (Hyperoxaluria, unspecified) or more specifically E72.53 (Primary hyperoxaluria), while the older ICD-9-CM system categorized it under 271.8 (Other specified disorders of carbohydrate metabolism). These diagnostic codes are essential for healthcare providers to document the metabolic nature of Primary Hyperoxaluria and facilitate insurance coverage for necessary treatments.

What is the clinical significance of Primary Hyperoxaluria?

Primary Hyperoxaluria is a rare, life-threatening genetic metabolic disorder characterized by the overproduction of oxalate in the liver. This excessive oxalate leads to recurrent kidney stones, nephrocalcinosis, and eventually systemic oxalosis, where calcium oxalate deposits in organs like the heart, bones, and eyes. Because Primary Hyperoxaluria is a progressive condition, early diagnosis and accurate coding are vital for accessing specialized care.

How is Primary Hyperoxaluria classified?

Clinicians generally categorize Primary Hyperoxaluria into three distinct genetic subtypes based on the specific enzyme deficiency:

• Type I (PH1): Caused by a deficiency of the AGXT enzyme; it is the most common and often the most severe form.


• Type II (PH2): Caused by a deficiency of the GRHPR enzyme.


• Type III (PH3): Caused by a deficiency of the HOGA1 enzyme.

Is Primary Hyperoxaluria hereditary?

Yes, Primary Hyperoxaluria is an autosomal recessive disorder, meaning an individual must inherit two mutated copies of the causative gene—one from each parent—to manifest the disease. Genetic counseling is highly recommended for families affected by Primary Hyperoxaluria to understand the 25% recurrence risk for each future pregnancy.

Next steps

• Consult with a nephrologist or a metabolic specialist to confirm your specific subtype.


• Request a genetic test to identify the exact mutation, which is crucial for determining the best therapeutic path.


• Join the DiseaseMaps.org community to connect with other patients and families navigating the complexities of this rare condition.


• Monitor renal function closely through regular blood tests and 24-hour urine collection.

Medical Disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Primary Hyperoxaluria


• Orphanet: Primary Hyperoxaluria (ORPHA:417)


• Online Mendelian Inheritance in Man (OMIM): #259900 (PH1)


• Oxalosis & Hyperoxaluria Foundation (OHF)