Short answer · Medically reviewed summary · Last updated: 2026-05-08
Norrie disease is classified under the ICD-10 code Q87.89 (other specified congenital malformation syndromes) and the ICD-9 code 759.89 (other specified congenital anomalies). These billing codes are essential for medical documentation, though they represent the broad clinical category rather than the specific genetic nature of the condition. What is the clinical nature of Norrie disease? Norrie disease is a rare X-linked recessive disorder primarily characterized by bilateral congenital blindness.
ICD10 code of Norrie Disease and ICD9 code
ICD-10 and ICD-9 codes for Norrie Disease, with classification details for clinicians, coders and patients.
Norrie disease is classified under the ICD-10 code Q87.89 (other specified congenital malformation syndromes) and the ICD-9 code 759.89 (other specified congenital anomalies). These billing codes are essential for medical documentation, though they represent the broad clinical category rather than the specific genetic nature of the condition.
What is the clinical nature of Norrie disease?
Norrie disease is a rare X-linked recessive disorder primarily characterized by bilateral congenital blindness. It is caused by mutations in the NDP gene, which encodes the norrin protein essential for retinal vascular development. Beyond vision loss, individuals with Norrie disease may experience progressive hearing loss, developmental delays, and intellectual disability, reflecting the systemic role of norrin in cellular signaling.
How is Norrie disease diagnosed?
Diagnosis of Norrie disease is typically confirmed through a combination of clinical ophthalmological examination and molecular genetic testing. Because it is an X-linked condition, it predominantly affects males. Genetic counseling is a critical component of the diagnostic journey to help families understand the inheritance pattern and the 50% recurrence risk for future pregnancies in carrier mothers.
What are the primary features of Norrie disease?
The clinical presentation of Norrie disease is complex and requires multidisciplinary management. Key features include:
- Bilateral retinal detachment and leukocoria (white pupil) present at birth.
- Sensorineural hearing loss, which typically manifests in the second decade of life.
- Variable degrees of intellectual disability or cognitive impairment.
- Peripheral vascular anomalies, though these are less common than ocular and auditory symptoms.
How does the community support those with Norrie disease?
Navigating a rare diagnosis can feel isolating, but you are not alone. Currently, 22 people with Norrie disease have joined the DiseaseMaps.org community to share their experiences, provide peer support, and exchange information on managing the multisystemic challenges associated with the condition.
Next steps
- Consult with a clinical geneticist to confirm the diagnosis via NDP gene sequencing.
- Schedule regular evaluations with a pediatric ophthalmologist and an audiologist to monitor disease progression.
- Connect with the 22 community members on DiseaseMaps.org to share resources and coping strategies.
- Engage with early intervention services to support developmental milestones.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; always consult with a qualified healthcare professional regarding your specific health needs.
References
- Orphanet: Norrie disease (ORPHA:657)
- NIH GARD: Norrie disease (GARD:7251)
- OMIM: Norrie disease (Entry #310600)
- DiseaseMaps.org: Community insights on rare genetic ocular disorders
