ICD-10-CM Codes
E00-E89
E70-E88
E72-
2023 ICD-10-CM Diagnosis Code E72.04

2023 ICD-10-CM Diagnosis Code E72.04

Cystinosis

2016

2017

2018

2019

2020

2021

2022

2023

Billable/Specific Code

E72.04 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
The 2023 edition of ICD-10-CM E72.04 became effective on October 1, 2022.
This is the American ICD-10-CM version of E72.04 - other international versions of ICD-10 E72.04 may differ.

Applicable To

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

Type 1 Excludes

Type 1 Excludes Help

A type 1 excludes note is a pure excludes. It means "not coded here". A type 1 excludes note indicates that the code excluded should never be used at the same time as E72.04. A type 1 excludes note is for used for 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 (
ICD-10-CM Diagnosis Code E72.09
Other disorders of amino-acid transport
Applicable To
- Fanconi (-de Toni) (-Debré) syndrome, unspecified
E72.09
)

The following code(s) above E72.04 contain annotation back-references

Annotation Back-References

In this context, annotation back-references refer to codes that contain:

Applicable To annotations, or
Code Also annotations, or
Code First annotations, or
Excludes1 annotations, or
Excludes2 annotations, or
Includes annotations, or
Note annotations, or
Use Additional annotations

that may be applicable to E72.04:

E00-E89
2023 ICD-10-CM Range E00-E89
Endocrine, nutritional and metabolic diseases
Note
- All neoplasms, whether functionally active or not, are classified in Chapter 2. Appropriate codes in this chapter (i.e. E05.8, E07.0, E16-E31, E34.-) may be used as additional codes to indicate either functional activity by neoplasms and ectopic endocrine tissue or hyperfunction and hypofunction of endocrine glands associated with neoplasms and other conditions classified elsewhere.
Type 1 Excludes
- transitory endocrine and metabolic disorders specific to newborn (P70-P74)
Endocrine, nutritional and metabolic diseases
E70-E88
2023 ICD-10-CM Range E70-E88
Metabolic disorders
Type 1 Excludes
- androgen insensitivity syndrome (E34.5-)
- congenital adrenal hyperplasia (E25.0)
- hemolytic anemias attributable to enzyme disorders (D55.-)
- Marfan's syndrome (Q87.4)
- 5-alpha-reductase deficiency (E29.1)
Type 2 Excludes
- Ehlers-Danlos syndromes (Q79.6-)
Metabolic disorders
E72
ICD-10-CM Diagnosis Code E72
Other disorders of amino-acid metabolism
Type 1 Excludes
- disorders of:
- aromatic amino-acid metabolism (E70.-)
- branched-chain amino-acid metabolism (E71.0-E71.2)
- fatty-acid metabolism (E71.3)
- purine and pyrimidine metabolism (E79.-)
- gout (M1A.-, M10.-)
Other disorders of amino-acid metabolism
E72.0
ICD-10-CM Diagnosis Code E72.0
Disorders of amino-acid transport
Type 1 Excludes
- disorders of tryptophan metabolism (E70.5)
Disorders of amino-acid transport

Clinical Information

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.
An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction.
Lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells.

ICD-10-CM E72.04 is grouped within Diagnostic Related Group(s) (MS-DRG v40.0):

642 Inborn and other disorders of metabolism

Convert E72.04 to ICD-9-CM

Code History

2016 (effective 10/1/2015): New code (first year of non-draft ICD-10-CM)
2017 (effective 10/1/2016): No change
2018 (effective 10/1/2017): No change
2019 (effective 10/1/2018): No change
2020 (effective 10/1/2019): No change
2021 (effective 10/1/2020): No change
2022 (effective 10/1/2021): No change
2023 (effective 10/1/2022): No change

Code annotations containing back-references to E72.04:

Type 1 Excludes: N16
, E72.1

ICD-10-CM Diagnosis Code N16
Renal tubulo-interstitial disorders in diseases classified elsewhere
Applicable To
- Pyelonephritis
- Tubulo-interstitial nephritis
Code First
- underlying disease, such as:
- brucellosis (A23.0-A23.9)
- cryoglobulinemia (D89.1)
- glycogen storage disease (E74.0)
- leukemia (C91-C95)
- lymphoma (C81.0-C85.9, C96.0-C96.9)
- multiple myeloma (C90.0-)
- sepsis (A40.0-A41.9)
- Wilson's disease (E83.0)
Type 1 Excludes
- diphtheritic pyelonephritis and tubulo-interstitial nephritis (A36.84)
- pyelonephritis and tubulo-interstitial nephritis in candidiasis (B37.49)
- pyelonephritis and tubulo-interstitial nephritis in cystinosis (E72.04)
- pyelonephritis and tubulo-interstitial nephritis in salmonella infection (A02.25)
- pyelonephritis and tubulo-interstitial nephritis in sarcoidosis (D86.84)
- pyelonephritis and tubulo-interstitial nephritis in Sjogren syndrome (M35.04)
- pyelonephritis and tubulo-interstitial nephritis in systemic lupus erythematosus (M32.15)
- pyelonephritis and tubulo-interstitial nephritis in toxoplasmosis (B58.83)
- renal tubular degeneration in diabetes (E08-E13 with .29)
- syphilitic pyelonephritis and tubulo-interstitial nephritis (A52.75)
ICD-10-CM Diagnosis Code E72.1
Disorders of sulfur-bearing amino-acid metabolism
Type 1 Excludes
- cystinosis (E72.04)
- cystinuria (E72.01)
- transcobalamin II deficiency (D51.2)

Diagnosis Index entries containing back-references to E72.04:

Abderhalden-Kaufmann-Lignac syndrome E72.04 (cystinosis)
Cystinosis E72.04 (malignant)
De Toni-Fanconi (-Debré) E72.09
ICD-10-CM Diagnosis Code E72.09
Other disorders of amino-acid transport
Applicable To
Fanconi (-de Toni) (-Debré) syndrome, unspecified
- with cystinosis E72.04
Disease, diseased - see also Syndrome
- Lignac's E72.04 (cystinosis)
Disorder (of) - see also Disease
- amino-acid
  - cystinosis E72.04
- tubulo-interstitial (in)
  - cystinosis E72.04
Fanconi (-de Toni)(-Debré) E72.09
ICD-10-CM Diagnosis Code E72.09
Other disorders of amino-acid transport
Applicable To
Fanconi (-de Toni) (-Debré) syndrome, unspecified
- with cystinosis E72.04
Lignac (-de Toni) (-Fanconi) (-Debré) E72.09
ICD-10-CM Diagnosis Code E72.09
Other disorders of amino-acid transport
Applicable To
Fanconi (-de Toni) (-Debré) syndrome, unspecified
- with cystinosis E72.04
Pyelonephritis - see also Nephritis, tubulo-interstitial
- in (due to)
  - cystinosis E72.04
Syndrome - see also Disease
- de Toni-Fanconi (-Debré) E72.09
  ICD-10-CM Diagnosis Code E72.09
  Other disorders of amino-acid transport
  2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code
  Applicable To
  Fanconi (-de Toni) (-Debré) syndrome, unspecified
  - with cystinosis E72.04
- Fanconi (-de Toni) (-Debré) E72.09
  ICD-10-CM Diagnosis Code E72.09
  Other disorders of amino-acid transport
  2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code
  Applicable To
  Fanconi (-de Toni) (-Debré) syndrome, unspecified
  - with cystinosis E72.04
- Lignac (de Toni) (-Fanconi) (-Debré) E72.09
  ICD-10-CM Diagnosis Code E72.09
  Other disorders of amino-acid transport
  2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code
  Applicable To
  Fanconi (-de Toni) (-Debré) syndrome, unspecified
  - with cystinosis E72.04
- Toni-Fanconi E72.09
  ICD-10-CM Diagnosis Code E72.09
  Other disorders of amino-acid transport
  2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code
  Applicable To
  Fanconi (-de Toni) (-Debré) syndrome, unspecified
  - with cystinosis E72.04
Toni-Fanconi syndrome (cystinosis) E72.09
ICD-10-CM Diagnosis Code E72.09
Other disorders of amino-acid transport
Applicable To
Fanconi (-de Toni) (-Debré) syndrome, unspecified
- with cystinosis E72.04

ICD-10-CM Codes Adjacent To E72.04

E71.540 Rhizomelic chondrodysplasia punctata

E71.541 Zellweger-like syndrome

E71.542 Other group 3 peroxisomal disorders

E71.548 Other peroxisomal disorders

E72 Other disorders of amino-acid metabolism

E72.0 Disorders of amino-acid transport

E72.00 …… unspecified

E72.01 Cystinuria

E72.02 Hartnup's disease

E72.03 Lowe's syndrome

E72.04 Cystinosis

E72.09 Other disorders of amino-acid transport

E72.1 Disorders of sulfur-bearing amino-acid metabolism

E72.10 …… unspecified

E72.11 Homocystinuria

E72.12 Methylenetetrahydrofolate reductase deficiency

E72.19 Other disorders of sulfur-bearing amino-acid metabolism

E72.2 Disorders of urea cycle metabolism

E72.20 Disorder of urea cycle metabolism, unspecified

E72.21 Argininemia

E72.22 Arginosuccinic aciduria

Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes.

2023 ICD-10-CM Diagnosis Code E72.04

Cystinosis

Other disorders of amino-acid transport

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of amino-acid metabolism

Disorders of amino-acid transport

Renal tubulo-interstitial disorders in diseases classified elsewhere

Disorders of sulfur-bearing amino-acid metabolism

Other disorders of amino-acid transport

Other disorders of amino-acid transport

Other disorders of amino-acid transport

Other disorders of amino-acid transport

Other disorders of amino-acid transport

Other disorders of amino-acid transport

Other disorders of amino-acid transport

Other disorders of amino-acid transport