E72.04 Cystinosis

Billable ICD-10-CM code, FY2026. Acts as a Complication or Comorbidity (CC) as a secondary diagnosis.

Applicable to

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

Excludes1 (never code together)

• Fanconi (-de Toni) (-Debré) syndrome without cystinosis (E72.09)

Applies from E72 Other disorders of amino-acid metabolism

Excludes1 (never code together)

• 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.-)

Applies from E72.0 Disorders of amino-acid transport

Excludes1 (never code together)

• disorders of tryptophan metabolism (E70.5)

Risk adjustment (HCC)

• CMS-HCC V22: HCC 23 — Other Significant Endocrine and Metabolic Disorders
• RxHCC V08: HCC 41 — Lysosomal Storage Disorders
• ESRD V24: HCC 23

MS-DRG index

Defines the logic of DRG(s) 642 in MDC 10.

Approximate ICD-9-CM (GEMs)

• 270.0 Disturbances of amino-acid transport (approximate)

Code annotations containing back-references to E72.04

Back-references to E72.04

• Type 1 Excludes: E72.1 Disorders of sulfur-bearing amino-acid metabolism ("cystinosis (E72.04)")
• Type 1 Excludes: N16 Renal tubulo-interstitial disorders in diseases classified elsewhere ("pyelonephritis and tubulo-interstitial nephritis in cystinosis (E72.04)")

Back-references to E72.0

• Type 1 Excludes: D61.03 Fanconi anemia ("Fanconi syndrome (E72.0-)")
• Type 1 Excludes: N29 Other disorders of kidney and ureter in diseases classified elsewhere ("cystinosis (E72.0)")

Back-references to E72

• Type 2 Excludes: G11 Hereditary ataxia ("metabolic disorders (E70-E88)")
• Code First: G63 Polyneuropathy in diseases classified elsewhere ("metabolic diseases (E70-E88)")
• Type 2 Excludes: G71 Primary disorders of muscles ("metabolic disorders (E70-E88)")
• Code First: H42 Glaucoma in diseases classified elsewhere ("specified metabolic disorder (E70-E88)")
• Type 2 Excludes: N25.0 Renal osteodystrophy ("metabolic disorders classifiable to E70-E88")
• Type 2 Excludes: N25.81 Secondary hyperparathyroidism of renal origin ("metabolic disorders classifiable to E70-E88")
• Type 1 Excludes: P59 Neonatal jaundice from other and unspecified causes ("jaundice due to inborn errors of metabolism (E70-E88)")
• Type 1 Excludes: R79 Other abnormal findings of blood chemistry ("specific findings indicating disorder of amino-acid metabolism (E70-E72)")
• Type 1 Excludes: R79.83 Abnormal findings of blood amino-acid level ("disorders of amino-acid metabolism (E70-E72)")

Diagnosis Index entries for E72.04

• Abderhalden-Kaufmann-Lignac syndrome (cystinosis)
• Cystinosis (malignant)
• De Toni-Fanconi (-Debré) syndrome › with cystinosis
• Disease, diseased › Lignac's (cystinosis)
• Disorder (of) › amino-acid › cystinosis
• Disorder (of) › tubulo-interstitial (in) › cystinosis
• Fanconi (-de Toni)(-Debré) syndrome › with cystinosis
• Lignac (-de Toni) (-Fanconi) (-Debré) disease or syndrome › with cystinosis
• Pyelonephritis › in (due to) › cystinosis
• Syndrome › de Toni-Fanconi (-Debré) › with cystinosis
• Syndrome › Fanconi (-de Toni) (-Debré) › with cystinosis
• Syndrome › Lignac (de Toni) (-Fanconi) (-Debré) › with cystinosis
• Syndrome › Toni-Fanconi › with cystinosis
• Toni-Fanconi syndrome (cystinosis) › with cystinosis

Nearby codes

• E72.0 Disorders of amino-acid transport
• E72.00 Disorders of amino-acid transport, unspecified
• E72.01 Cystinuria
• E72.02 Hartnup's disease
• E72.03 Lowe's syndrome
• E72.04 Cystinosis (this code)
• E72.09 Other disorders of amino-acid transport
• E72.1 Disorders of sulfur-bearing amino-acid metabolism
• E72.10 Disorders of sulfur-bearing amino-acid metabolism, unspecified
• E72.11 Homocystinuria
• E72.12 Methylenetetrahydrofolate reductase deficiency