E72.04

Applicable To

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

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.

Details

• 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.