2026 ICD-10-CM Diagnosis Code E72.04Cystinosis

AHRQ’s CCSR groups this code into broader clinical categories.

• 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.

• CTNS wt Allele|CTNS-LSB|Cystinosin, Lysosomal Cystine Transporter wt Allele|Cystinosis Nephropathic Gene|Cystinosis, Nephropathic Gene|PQLC4|SLC66A4

  human ctns wild-type allele is located in the vicinity of 17p13.2 and is approximately 27 kb in length. this allele, which encodes cystinosin protein, plays a role in cystine/proton symport. mutation of the gene is associated with multiple forms nephropathic cystinosis including the atypical, the ocular and the late-onset juvenile or adolescent forms.

• Cystinosis

  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.

• Nephropathic Cystinosis

  an autosomal recessive condition caused by mutation(s) in the ctns gene, encoding cystinosin. it is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.

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.

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