Short answer · Medically reviewed summary · Last updated: 2026-05-08
The ICD-10-CM code for Choroideremia is H31.21, while the corresponding ICD-9-CM code is 363.55. These billing and diagnostic codes are used internationally to identify Choroideremia, a rare, X-linked inherited retinal dystrophy, within clinical and administrative medical records. What is the clinical significance of the Choroideremia diagnosis code? Using the specific codes for Choroideremia ensures that healthcare providers and insurance systems correctly identify the condition during billing and data collection.
ICD10 code of Choroideremia and ICD9 code
ICD-10 and ICD-9 codes for Choroideremia, with classification details for clinicians, coders and patients.
The ICD-10-CM code for Choroideremia is H31.21, while the corresponding ICD-9-CM code is 363.55. These billing and diagnostic codes are used internationally to identify Choroideremia, a rare, X-linked inherited retinal dystrophy, within clinical and administrative medical records.
What is the clinical significance of the Choroideremia diagnosis code?
Using the specific codes for Choroideremia ensures that healthcare providers and insurance systems correctly identify the condition during billing and data collection. Because Choroideremia is a progressive disease characterized by the degeneration of the choroid and retinal pigment epithelium, accurate coding is essential for tracking patient outcomes and facilitating access to specialized ophthalmological care.
How is Choroideremia inherited?
Choroideremia follows an X-linked recessive inheritance pattern, meaning it primarily affects males. The disease is caused by mutations in the CHM gene, which encodes the Rab escort protein-1 (REP-1). Female carriers of Choroideremia may exhibit mild retinal pigmentary changes but typically do not experience significant vision loss, though they should still be monitored by a retina specialist.
What are the primary symptoms and diagnostic markers?
Patients with Choroideremia often report the following progression of symptoms:
- Night blindness (nyctalopia) appearing in early childhood.
- Progressive constriction of the peripheral visual field ("tunnel vision").
- Loss of visual acuity occurring in the later stages of life.
- Characteristic patchy atrophy of the choroid and retina visible during a fundus examination.
Next steps
- Consult with a retina specialist or a neuro-ophthalmologist for a comprehensive dilated eye exam and electroretinography (ERG).
- Seek genetic counseling to discuss inheritance risks and family planning.
- Connect with the 96 members of the Choroideremia community at DiseaseMaps.org to share experiences and coping strategies.
- Monitor clinical trial databases like ClinicalTrials.gov for the latest gene therapy research.
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 regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Choroideremia
- Orphanet: Choroideremia (ORPHA:166)
- OMIM (Online Mendelian Inheritance in Man): Choroideremia; CHM
- Choroideremia Research Foundation (CRF)
