ICD-10-CM Code E72.04

Cystinosis

Version 2020 Billable Code

Valid for Submission

E72.04 is a billable code used to specify a medical diagnosis of cystinosis. The code is valid for the year 2020 for the submission of HIPAA-covered transactions. The ICD-10-CM code E72.04 might also be used to specify conditions or terms like benign adult cystinosis, congenital fanconi syndrome, cystinosis, hypothyroidism due to cystinosis, hypothyroidism due to infiltrative disease, infantile nephropathic cystinosis, etc

ICD-10:E72.04
Short Description:Cystinosis
Long Description:Cystinosis

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 E72.04:

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.
  • Fanconi (-de Toni) (-Debré) syndrome with cystinosis

Type 1 Excludes

Type 1 Excludes
A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
  • Fanconi -de Toni -Debré syndrome without cystinosis E72.09

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 E72.04 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:

  • Benign adult cystinosis
  • Congenital Fanconi syndrome
  • Cystinosis
  • Hypothyroidism due to cystinosis
  • Hypothyroidism due to infiltrative disease
  • Infantile nephropathic cystinosis
  • Juvenile nephropathic cystinosis

Clinical Information

  • CYSTINOSIS-. a metabolic disease characterized by the defective transport of cystine across the lysosomal membrane due to mutation of a membrane protein cystinosin. this results in cystine accumulation and crystallization in the cells causing widespread tissue damage. in the kidney nephropathic cystinosis is a common cause of renal fanconi syndrome.

Convert E72.04 to ICD-9

  • 270.0 - Amino-acid transport 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

Information for Patients


Kidney Diseases

You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about a million tiny structures called nephrons. They filter your blood. They remove wastes and extra water, which become urine. The urine flows through tubes called ureters. It goes to your bladder, which stores the urine until you go to the bathroom.

Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include

  • Cancer
  • Cysts
  • Stones
  • Infections

Your doctor can do blood and urine tests to check if you have kidney disease. If your kidneys fail, you will need dialysis or a kidney transplant.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases


[Learn More]

Cystinosis Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected.There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis.Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The buildup of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men.The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age. Intermediate cystinosis typically becomes apparent in affected individuals in adolescence. Malfunctioning kidneys and corneal crystals are the main initial features of this disorder. If intermediate cystinosis is left untreated, complete kidney failure will occur, but usually not until the late teens to mid-twenties.People with non-nephropathic or ocular cystinosis typically experience photophobia due to cystine crystals in the cornea, but usually do not develop kidney malfunction or most of the other signs and symptoms of cystinosis. Due to the absence of severe symptoms, the age at which this form of cystinosis is diagnosed varies widely.
[Learn More]