ICD-10-CM Code E74.02

Pompe disease

Version 2020 Billable Code

Valid for Submission

E74.02 is a billable code used to specify a medical diagnosis of pompe disease. The code is valid for the year 2020 for the submission of HIPAA-covered transactions. The ICD-10-CM code E74.02 might also be used to specify conditions or terms like cardiac glycogenosis, deficiency of alpha-glucosidase, deficiency of glucan 1,4-alpha-glucosidase, fatal congenital nonlysosomal heart glycogenosis, glycogen storage disease due to acid maltase deficiency, glycogen storage disease due to acid maltase deficiency, infantile onset, etc

ICD-10:E74.02
Short Description:Pompe disease
Long Description:Pompe disease

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 E74.02:

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.
  • Cardiac glycogenosis
  • Type II glycogen storage disease

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 E74.02 are found in the index:


Synonyms

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

  • Cardiac glycogenosis
  • Deficiency of alpha-glucosidase
  • Deficiency of glucan 1,4-alpha-glucosidase
  • Fatal congenital nonlysosomal heart glycogenosis
  • Glycogen storage disease due to acid maltase deficiency
  • Glycogen storage disease due to acid maltase deficiency, infantile onset
  • Glycogen storage disease due to acid maltase deficiency, late-onset
  • Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
  • Nutritional and metabolic cardiomyopathies

Clinical Information

  • GLYCOGEN STORAGE DISEASE TYPE II-. an autosomal recessively inherited glycogen storage disease caused by glucan 14 alpha glucosidase deficiency. large amounts of glycogen accumulate in the lysosomes of skeletal muscle muscle skeletal; heart; liver; spinal cord; and brain. three forms have been described: infantile childhood and adult. the infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy cardiomyopathy hypertrophic. the childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. the adult form consists of a slowly progressive proximal myopathy. from muscle nerve 1995;3:s61 9; menkes textbook of child neurology 5th ed pp73 4

Convert E74.02 to ICD-9

  • 271.0 - Glycogenosis (Approximate Flag)

Code Classification

  • Endocrine, nutritional and metabolic diseases (E00–E90)
    • Metabolic disorders (E70-E88)
      • Other disorders of carbohydrate metabolism (E74)

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

Information for Patients


Carbohydrate 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. Chemicals in your digestive system (enzymes) break 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 tissues. If you have a metabolic disorder, something goes wrong with this process.

Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.

These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.

Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.


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Pompe disease Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
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