ICD-10-CM Code E72.11


Version 2021 Billable Code

Valid for Submission

E72.11 is a billable code used to specify a medical diagnosis of homocystinuria. The code is valid for the fiscal year 2021 for the submission of HIPAA-covered transactions. The ICD-10-CM code E72.11 might also be used to specify conditions or terms like adenosylcobalamin and methylcobalamin synthesis defect, cystathionine beta-synthase deficiency, functional defects of methionine synthase, hereditary hyperhomocysteinemia, homocystinemia, homocystinuria, etc

Short Description:Homocystinuria
Long Description:Homocystinuria

Tabular List of Diseases and Injuries

The Tabular List of Diseases and Injuries is a list of ICD-10 codes, organized "head to toe" into chapters and sections with guidance for inclusions, exclusions, descriptions and more. The following references are applicable to the code E72.11:

Inclusion Terms

Inclusion Terms
These terms are the conditions for which that code is to be used. The terms may be synonyms of the code title, or, in the case of "other specified" codes, the terms are a list of the various conditions assigned to that code. The inclusion terms are not necessarily exhaustive. Additional terms found only in the Alphabetic Index may also be assigned to a code.
  • Cystathionine synthase deficiency

Index to Diseases and Injuries

The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for the code E72.11 are found in the index:


The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

  • Adenosylcobalamin and methylcobalamin synthesis defect
  • Cystathionine beta-synthase deficiency
  • Functional defects of methionine synthase
  • Hereditary hyperhomocysteinemia
  • Homocystinemia
  • Homocystinuria
  • Homocystinuria
  • Homocystinuria
  • Homocystinuria vitamin B12-responsive type III
  • Homocystinuria without methylmalonic aciduria
  • Hyperhomocysteinemia
  • Inherited disorder of folate metabolism
  • Inherited methylmalonic acidemia AND homocystinuria
  • Methylcobalamin deficiency type cbl G
  • Methylene THF reductase deficiency AND homocystinuria

Clinical Information

  • HOMOCYSTINURIA-. autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of cystathionine beta synthase and associated with elevations of homocysteine in plasma and urine. clinical features include a tall slender habitus scoliosis arachnodactyly muscle weakness genu varus thin blond hair malar flush lens dislocations an increased incidence of mental retardation and a tendency to develop fibrosis of arteries frequently complicated by cerebrovascular accidents and myocardial infarction. from adams et al. principles of neurology 6th ed p979

Convert E72.11 to ICD-9

  • 270.4 - Sulph amino-acid met dis (Approximate Flag)

Code Classification

  • Endocrine, nutritional and metabolic diseases (E00–E90)
    • Metabolic disorders (E70-E88)
      • Other disorders of amino-acid metabolism (E72)

Code History

  • FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016
    (First year ICD-10-CM implemented into the HIPAA code set)
  • FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
  • FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
  • FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
  • FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
  • FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021

Information for Patients

Amino Acid Metabolism Disorders

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body. If you have a metabolic disorder, something goes wrong with this process.

One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems.

These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests.

Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications.

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Homocystinuria Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic).The signs and symptoms of homocystinuria typically develop within the first year of life, although some mildly affected people may not develop features until later in childhood or adulthood.
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