2020 ICD-10-CM Diagnosis Code E72.04

Cystinosis

    2016 2017 2018 2019 2020 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 2020 edition of ICD-10-CM E72.04 became effective on October 1, 2019.
  • 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

      2016 2017 2018 2019 2020 Billable/Specific Code
    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
    2020 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
    2020 ICD-10-CM Range E70-E88

    Metabolic disorders

    Type 1 Excludes
    • androgen insensitivity syndrome (E34.5-)
    • congenital adrenal hyperplasia (E25.0)
    • Ehlers-Danlos syndrome (Q79.6-)
    • hemolytic anemias attributable to enzyme disorders (D55.-)
    • Marfan's syndrome (Q87.4)
    • 5-alpha-reductase deficiency (E29.1)
    Metabolic disorders
  • E72
    ICD-10-CM Diagnosis Code E72

    Other disorders of amino-acid metabolism

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    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

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    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 v37.0):
  • 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
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

      2016 2017 2018 2019 2020 Billable/Specific Code Manifestation Code
    Applicable To
    • Pyelonephritis
    • Tubulo-interstitial nephritis
    Code First
    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 sicca syndrome [Sjogren's] (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

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    Type 1 Excludes

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

      2016 2017 2018 2019 2020 Billable/Specific Code
    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
  • Fanconi (-de Toni)(-Debré) E72.09
    ICD-10-CM Diagnosis Code E72.09

    Other disorders of amino-acid transport

      2016 2017 2018 2019 2020 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 Billable/Specific Code
    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 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 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 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 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

      2016 2017 2018 2019 2020 Billable/Specific Code
    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.