E7211 - Homocystinuria - a rare genetic disorder affecting amino acid metabolism

International Classification of Diseases

Last updated: 3/24/2026

What is a ICD-10 Code?

ICD-10 (International Classification of Diseases, 10th Revision) codes are used to classify and code all diagnoses, symptoms, and procedures recorded in association with hospital care. These codes provide a standardized way to track health conditions and their treatment outcomes.

Detailed Description

Homocystinuria is a rare inherited metabolic disorder where the body cannot properly break down an amino acid called homocysteine. This leads to a buildup of homocysteine in the blood and urine. The condition is caused by deficiencies in certain enzymes needed for normal protein metabolism. If left untreated, it can affect multiple body systems including the eyes, skeletal system, blood vessels, and nervous system. Early diagnosis and treatment are important for preventing complications.

Additional Information

This is a lifelong genetic condition requiring ongoing medical management. Treatment typically involves dietary modifications, vitamin supplements (particularly B6, B12, and folate), and regular monitoring to prevent complications.

Category

Endocrine, nutritional and metabolic diseases

Medical Specialty

Medical Genetics, Endocrinology, Pediatrics

Expected Costs

Your actual cost will depend on your insurance coverage, provider location, and specific circumstances.

What's Required Before This

  • Genetic testing
  • Amino acid level testing
  • Family history assessment

What to Expect After

  • Regular monitoring of homocysteine levels
  • Dietary management
  • Vitamin supplementation
  • Ophthalmologic exams
  • Cardiovascular monitoring

Why Understanding This Code Matters

On Your Medical Bill

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For Your Health

Knowing what this code represents helps you understand your treatment plan, ask better questions during appointments, and track your healthcare journey more effectively.

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