ICD10 code of Usher Syndrome and ICD9 code

Usher Syndrome is classified under the ICD-10-CM code H31.21 (Hereditary choroidal dystrophy, which encompasses the retinitis pigmentosa component) and the ICD-9-CM code 362.74. Because Usher Syndrome is a complex genetic condition involving both hearing and vision loss, clinicians often use a combination of codes to accurately document the specific sensory impairments associated with the diagnosis.

What is the clinical significance of Usher Syndrome coding?

Usher Syndrome is a rare genetic disorder characterized by the combination of sensorineural hearing loss and progressive vision loss due to retinitis pigmentosa. In clinical practice, coding for Usher Syndrome is not a single, isolated process because the disease manifests differently across three distinct clinical types (Type I, II, and III). Physicians must document the specific nature of the hearing impairment (e.g., congenital profound deafness) and the retinal degeneration to provide a comprehensive medical record. At DiseaseMaps.org, 214 people with Usher Syndrome have shared their experiences, highlighting the importance of accurate diagnostic coding to ensure patients receive appropriate multidisciplinary care and insurance coverage for assistive technologies.

How are the different types of Usher Syndrome classified?

While the ICD-10 system provides a framework for billing, medical professionals use the clinical classification of Usher Syndrome to guide prognosis and treatment. The classification is based on the severity and onset of the sensory deficits:

• Usher Syndrome Type I: Characterized by profound congenital deafness, vestibular dysfunction (balance issues), and early-onset retinitis pigmentosa.


• Usher Syndrome Type II: Characterized by moderate-to-severe hearing loss from birth and vision loss that begins during adolescence or early adulthood.


• Usher Syndrome Type III: Characterized by progressive hearing loss that begins in late childhood or adolescence, accompanied by variable vestibular function and vision loss.

Is Usher Syndrome hereditary and how is it diagnosed?

Usher Syndrome is inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene—one from each parent—to manifest the condition. Genetic testing is the gold standard for diagnosis, as it can pinpoint mutations in genes such as MYO7A (Type I) or USH2A (Type II). A formal diagnosis of Usher Syndrome typically involves a team approach, including an otolaryngologist to assess hearing, an ophthalmologist to evaluate retinal function via electroretinography (ERG), and a genetic counselor to discuss the implications for family members.

What is the emotional impact of living with Usher Syndrome?

Living with Usher Syndrome presents unique psychological challenges, as the dual sensory loss requires constant adaptation. Many patients report feelings of isolation or anxiety regarding the progressive nature of their vision loss. It is vital for individuals with Usher Syndrome to connect with support communities, such as the one found at DiseaseMaps.org, where shared lived experiences can provide emotional validation and practical strategies for navigating daily life, education, and career opportunities.

Next steps

• Consult with a board-certified geneticist to confirm a molecular diagnosis through genetic testing.


• Request a referral to a low-vision specialist and an audiologist who specializes in deaf-blind rehabilitative services.


• Connect with the community of 214 individuals at DiseaseMaps.org to share resources and coping strategies.


• Register with the Usher Syndrome Coalition to stay informed about the latest clinical trials and research developments.

Medical disclaimer: This information is for educational 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: Usher Syndrome (ORPHA:886)


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


• OMIM (Online Mendelian Inheritance in Man): Usher Syndrome Entry #276900


• Usher Syndrome Coalition: Resources for Patients and Families