Short answer · Medically reviewed summary · Last updated: 2026-05-08
The ICD-10-CM code for Chediak-Higashi syndrome is E70.330, while the legacy ICD-9-CM code is 279.8. These diagnostic codes are essential for medical billing and clinical documentation for patients managing this rare, multisystem disorder. What is the clinical classification of Chediak-Higashi syndrome? Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by oculocutaneous albinism, immune deficiency, and progressive neurological impairment.
ICD10 code of Chediak Higashi Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Chediak Higashi Syndrome, with classification details for clinicians, coders and patients.
The ICD-10-CM code for Chediak-Higashi syndrome is E70.330, while the legacy ICD-9-CM code is 279.8. These diagnostic codes are essential for medical billing and clinical documentation for patients managing this rare, multisystem disorder.
What is the clinical classification of Chediak-Higashi syndrome?
Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by oculocutaneous albinism, immune deficiency, and progressive neurological impairment. The condition results from mutations in the LYST gene, which regulates lysosomal trafficking. Because Chediak-Higashi syndrome affects the body's ability to produce functional lysosomes, patients require specialized care to manage recurrent infections and the potential for a life-threatening "accelerated phase" characterized by hemophagocytic lymphohistiocytosis (HLH).
How is Chediak-Higashi syndrome diagnosed?
Diagnosis typically involves a combination of clinical observation and laboratory testing. Physicians look for specific diagnostic markers, including:
- Peripheral blood smear: Identification of pathognomonic giant, peroxidase-positive inclusion bodies in leukocytes.
- Genetic testing: Molecular confirmation of biallelic pathogenic variants in the LYST gene.
- Immunological screening: Evaluation of natural killer (NK) cell function and cytotoxic T-cell activity.
- Clinical examination: Assessment of partial albinism (hypopigmentation) and ophthalmologic findings like nystagmus or photophobia.
Is there support for families affected by Chediak-Higashi syndrome?
Living with Chediak-Higashi syndrome presents significant emotional and logistical challenges for families. Currently, 3 people with Chediak-Higashi syndrome have joined the DiseaseMaps.org community to share their experiences and provide mutual support. Connecting with others facing the complexities of Chediak-Higashi syndrome can help reduce the isolation often felt by patients and caregivers navigating this rare diagnosis.
What are the primary treatment approaches?
Management of Chediak-Higashi syndrome is multidisciplinary. While hematopoietic stem cell transplantation (HSCT) remains the only curative therapy for the immune and hematologic manifestations, supportive care for Chediak-Higashi syndrome often includes prophylactic antibiotics, antivirals, and aggressive management of neurological symptoms.
Next steps
- Consult a pediatric immunologist or a hematologist specializing in primary immunodeficiency disorders.
- Coordinate with a genetic counselor to discuss family planning and inheritance risks.
- Join a patient support group or the DiseaseMaps.org community to connect with other families affected by Chediak-Higashi syndrome.
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
- NIH Genetic and Rare Diseases Information Center (GARD): Chediak-Higashi syndrome
- Orphanet: ORPHA164 (Chediak-Higashi syndrome)
- OMIM (Online Mendelian Inheritance in Man): #214500
- Immunodeficiency Foundation (IDF): Information on rare primary immunodeficiencies
