ICD10 code of Hunter syndrome and ICD9 code

Hunter syndrome (Mucopolysaccharidosis type II) is classified under the ICD-10 code E76.1 and the ICD-9 code 277.5. These codes are essential for medical documentation, insurance billing, and tracking the clinical management of patients living with this rare, multisystem genetic disorder.

What is the clinical significance of Hunter syndrome classification?

Hunter syndrome is a rare, X-linked recessive lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS). The use of specific ICD-10 and ICD-9 codes ensures that healthcare providers and researchers can accurately monitor the prevalence of Hunter syndrome across global health databases. Proper coding is vital for accessing specialized enzyme replacement therapies (ERT) and coordinating multidisciplinary care for our community of 66 DiseaseMaps members affected by the condition.

How is Hunter syndrome inherited?

Hunter syndrome is inherited in an X-linked recessive pattern, meaning it primarily affects males. Because the gene responsible for the enzyme production is located on the X chromosome, mothers who are carriers have a 50% chance of passing the altered gene to their sons. Understanding the genetic basis of Hunter syndrome is critical for family planning and early screening within affected families.

What are the primary diagnostic indicators?

Diagnosis of Hunter syndrome typically involves a combination of clinical evaluation and laboratory testing to confirm the deficiency of the IDS enzyme. Key diagnostic steps include:

• Enzyme Activity Assay: Measuring IDS enzyme activity in blood, plasma, or leukocytes.


• Molecular Genetic Testing: Identifying pathogenic variants in the IDS gene to confirm a Hunter syndrome diagnosis.


• Urinary GAG Analysis: Testing for elevated levels of glycosaminoglycans (dermatan sulfate and heparan sulfate).

Next steps

• Consult with a metabolic geneticist to discuss diagnostic confirmation and potential clinical trials.


• Connect with the 66 other members on DiseaseMaps.org to share experiences and coping strategies.


• Review resources from the National MPS Society for caregiver support and disease-specific updates.

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

References

• NIH Genetic and Rare Diseases Information Center (GARD): Hunter Syndrome


• Orphanet: Mucopolysaccharidosis type II (ORPHA:581)


• OMIM (Online Mendelian Inheritance in Man): Mucopolysaccharidosis Type II (#309900)


• National MPS Society: Understanding Hunter Syndrome