ICD10 code of Gitelman syndrome and ICD9 code

Gitelman syndrome is classified under the ICD-10-CM code E83.42 (hypomagnesemia) and the ICD-9-CM code 275.49 (disorder of calcium/magnesium metabolism). These diagnostic codes are used for medical billing and tracking the clinical management of patients with this salt-wasting tubulopathy.

What is the clinical classification of Gitelman syndrome?

Gitelman syndrome is a rare, inherited salt-wasting tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. While ICD codes are essential for healthcare administration, they are broad categories that do not capture the complexity of Gitelman syndrome. Because it is a rare disease, it does not have its own unique, dedicated ICD-10 code, leading clinicians to use codes that reflect the electrolyte imbalances—primarily hypomagnesemia—that define the condition. Currently, 111 people with Gitelman syndrome have joined the DiseaseMaps community, sharing their experiences with these diagnostic challenges and the ongoing management required to maintain electrolyte stability.

How does the diagnosis of Gitelman syndrome affect medical record keeping?

Because Gitelman syndrome is a lifelong condition, accurate coding is vital for insurance authorization and long-term care planning. In addition to the primary codes (ICD-10 E83.42), doctors may use secondary codes to document the specific manifestations of the disease. For instance, clinicians may document hypokalemia (ICD-10 E87.6) or metabolic alkalosis (ICD-10 E87.3) to provide a complete clinical picture. Understanding how Gitelman syndrome is coded helps patients and caregivers communicate more effectively with insurance providers and specialists when seeking coverage for necessary electrolyte supplements and regular laboratory monitoring.

What diagnostic criteria define Gitelman syndrome?

The diagnosis of Gitelman syndrome is typically suspected in adolescents or young adults who present with unexplained fatigue, muscle cramps, or weakness. A clinical diagnosis is supported by a specific biochemical profile. Key diagnostic markers include:

• Persistent hypokalemia (low serum potassium levels).


• Hypomagnesemia (low serum magnesium levels).


• Metabolic alkalosis (elevated blood pH).


• Hypocalciuria (low urinary calcium excretion, which helps distinguish it from Bartter syndrome).


• High urinary excretion of potassium and magnesium.

Is Gitelman syndrome hereditary?

Yes, Gitelman syndrome is an autosomal recessive disorder, meaning an individual must inherit two copies of a mutated gene—specifically the SLC12A3 gene—to manifest the disease. This gene provides instructions for creating the thiazide-sensitive sodium-chloride cotransporter (NCC) in the distal convoluted tubule of the kidney. Genetic testing can confirm a diagnosis of Gitelman syndrome, providing definitive answers for families who may be navigating the diagnostic journey for years before receiving clarity on the underlying cause of their symptoms.

Next steps

• Consult a nephrologist or a specialist in renal tubulopathies to confirm your diagnosis and establish a monitoring plan.


• Request a referral for genetic testing to identify mutations in the SLC12A3 gene.


• Join a patient support group or the DiseaseMaps.org community to connect with others who understand the daily management of Gitelman syndrome.


• Maintain a detailed log of your electrolyte levels and symptoms to share with your care team during routine check-ups.

Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• Orphanet: Gitelman syndrome (ORPHA:378)


• NIH Genetic and Rare Diseases Information Center (GARD): Gitelman syndrome


• OMIM (Online Mendelian Inheritance in Man): Gitelman syndrome (#263800)


• The Gitelman Syndrome Foundation: Patient resources and clinical guidelines