Disorders of purine and pyrimidine metabolism (E79) ICD-10-CM
The E79 code range covers disorders of purine and pyrimidine metabolism with 9 ICD-10-CM diagnosis codes. 7 of them are billable and valid for claim submission in fiscal year 2027, and the category headers group them but cannot themselves be billed.
Type 1 Excludes
A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
Codes in the E79 Range 9 codes · 7 billable
- E79 Disorders of purine and pyrimidine metabolismNon-billable
- E79.0 Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
- E79.1 Lesch-Nyhan syndrome
- E79.2 Myoadenylate deaminase deficiency
- E79.8 Other disorders of purine and pyrimidine metabolismNon-billable
- E79.81 Aicardi-Goutieres syndrome
- E79.82 Hereditary xanthinuria
- E79.89 Other specified disorders of purine and pyrimidine metabolism
- E79.9 Disorder of purine and pyrimidine metabolism, unspecified
Clinical Terms in This Code Range
Definitions from the National Library of Medicine for conditions coded in the E79 range.
Aicardi-Goutieres Syndrome
A genetically heterogeneous condition characterized by clinical features and onset that may vary significantly. It is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.
Hyperuricemia
Excessive URIC ACID or urate in blood as defined by its solubility in plasma at 37 degrees C; greater than 0.42mmol per liter (7.0mg/dL) in men or 0.36mmol per liter (6.0mg/dL) in women. This condition is caused by overproduction of uric acid or impaired renal clearance. Hyperuricemia can be acquired, drug-induced or genetically determined (LESCH-NYHAN SYNDROME). It is associated with HYPERTENSION and GOUT.
Lesch-Nyhan Syndrome
An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
About the E79 Code Range
These disorders affect how the body processes purines and pyrimidines. E79 separates specific conditions from other and unspecified disorders.
E79.0 describes elevated blood urate without signs of inflammatory arthritis or tophaceous disease. The named conditions are Lesch-Nyhan syndrome (E79.1) and myoadenylate deaminase deficiency (E79.2). Under other disorders (E79.8), the codes distinguish Aicardi-Goutieres syndrome (E79.81), hereditary xanthinuria (E79.82), and other specified disorders (E79.89). E79.9 identifies an unspecified disorder.
Questions About This Page
How many billable codes are in the E79 range?
Of the 9 codes in this range, 7 are billable and valid for claim submission from October 1, 2026 through September 30, 2027. Category header codes group them but cannot be reported on claims.
What does the E79 range classify?
The range classifies disorders of purine and pyrimidine metabolism. Each code links to its own reference page with billing status, MS-DRG grouping, coding notes, and clinical information.
Related References
Source: CMS FY 2027 ICD-10-CM Tabular List and order file, effective October 1, 2026 through September 30, 2027.
