ICD-10 Code E72.04

Cystinosis

Version 2019 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.

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

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 mandated 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 Medical Professionals

Convert E72.04 to ICD-9

The following crosswalk between ICD-10 to ICD-9 is based based on the General Equivalence Mappings (GEMS) information:

  • 270.0 - Amino-acid transport dis (Approximate Flag)

Clinical Information

Notes:

  • 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.

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

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:


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 for the code E72.04 are found in the tabular index:

  • Inclusion Terms:
    • Fanconi (-de Toni) (-Debré) syndrome WITH cystinosis
  • Type 1 Excludes Notes:
    • Fanconi (-de Toni) (-Debré) syndrome WITH out cystinosis (E72.09)

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]

ICD-10 Footnotes

General Equivalence Map Definitions
The ICD-10 and ICD-9 GEMs are used to facilitate linking between the diagnosis codes in ICD-9-CM and the new ICD-10-CM code set. The GEMs are the raw material from which providers, health information vendors and payers can derive specific applied mappings to meet their needs.

  • Approximate Flag - The approximate flag is on, indicating that the relationship between the code in the source system and the code in the target system is an approximate equivalent.
  • No Map Flag - The no map flag indicates that a code in the source system is not linked to any code in the target system.
  • Combination Flag - The combination flag indicates that more than one code in the target system is required to satisfy the full equivalent meaning of a code in the source system.

Index of Diseases and Injuries Definitions

  • And - The word "and" should be interpreted to mean either "and" or "or" when it appears in a title.
  • Code also note - A "code also" note instructs that two codes may be required to fully describe a condition, but this note does not provide sequencing direction.
  • Code first - Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. For such conditions, the ICD-10-CM has a coding convention that requires the underlying condition be sequenced first followed by the manifestation. Wherever such a combination exists, there is a "use additional code" note at the etiology code, and a "code first" note at the manifestation code. These instructional notes indicate the proper sequencing order of the codes, etiology followed by manifestation.
  • Type 1 Excludes Notes - 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.
  • Type 2 Excludes Notes - A type 2 Excludes note represents "Not included here". An excludes2 note indicates that the condition excluded is not part of the condition represented by the code, but a patient may have both conditions at the same time. When an Excludes2 note appears under a code, it is acceptable to use both the code and the excluded code together, when appropriate.
  • Includes Notes - This note appears immediately under a three character code title to further define, or give examples of, the content of the category.
  • Inclusion terms - List of terms is included under some codes. 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.
  • NEC "Not elsewhere classifiable" - This abbreviation in the Alphabetic Index represents "other specified". When a specific code is not available for a condition, the Alphabetic Index directs the coder to the "other specified” code in the Tabular List.
  • NOS "Not otherwise specified" - This abbreviation is the equivalent of unspecified.
  • See - The "see" instruction following a main term in the Alphabetic Index indicates that another term should be referenced. It is necessary to go to the main term referenced with the "see" note to locate the correct code.
  • See Also - A "see also" instruction following a main term in the Alphabetic Index instructs that there is another main term that may also be referenced that may provide additional Alphabetic Index entries that may be useful. It is not necessary to follow the "see also" note when the original main term provides the necessary code.
  • 7th Characters - Certain ICD-10-CM categories have applicable 7th characters. The applicable 7th character is required for all codes within the category, or as the notes in the Tabular List instruct. The 7th character must always be the 7th character in the data field. If a code that requires a 7th character is not 6 characters, a placeholder X must be used to fill in the empty characters.
  • With - The word "with" should be interpreted to mean "associated with" or "due to" when it appears in a code title, the Alphabetic Index, or an instructional note in the Tabular List. The word "with" in the Alphabetic Index is sequenced immediately following the main term, not in alphabetical order.