2019 ICD-10-CM Diagnosis Code E79.1

Lesch-Nyhan syndrome

    2016 2017 2018 2019 Billable/Specific Code
  • E79.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
  • The 2019 edition of ICD-10-CM E79.1 became effective on October 1, 2018.
  • This is the American ICD-10-CM version of E79.1 - other international versions of ICD-10 E79.1 may differ.
Applicable To
  • HGPRT deficiency
The following code(s) above E79.1 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 E79.1:
  • E00-E89
    2019 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
    2019 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
  • E79
    ICD-10-CM Diagnosis Code E79

    Disorders of purine and pyrimidine metabolism

      2016 2017 2018 2019 Non-Billable/Non-Specific Code
    Type 1 Excludes
    Disorders of purine and pyrimidine metabolism
Approximate Synonyms
  • Lesch nyhan syndrome
Clinical Information
  • An inborn error of metabolism resulting from a deficiency of hypoxanthine-guanine phosphoribosyltransferase (ec 2.4.2.8) with increased conversion of glycine to uric acid with excessive purine synthesis and hyperuricemia. Patients are normal at birth but begin to show hypertonicity at about 4 months and irritability and other neurological symptoms become apparent during the second year of life, the child becoming gradually more aggressive and self-destructive, banging his head, biting the lower lip and, less commonly, the upper lip, cheeks, fingers, and hands, sometimes using the fingers to mutilate his ears and nose. Associated disorders include spastic cerebral palsy, choreoathetosis, renal uric acid calculi, gouty tophi, and uric acid nodules. Mental retardation is common but normal intelligence occurs in some cases.
  • 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)
  • An x-linked inherited syndrome caused by mutations in the gene that encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body. It affects males and is characterized by neurologic defects, moderate mental retardation, muscle hypotonia, and a tendency for self-mutilation (self-biting of lips, tongue, and fingertips).
  • Rare x-linked disorder of purine metabolism, due to deficiency of 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.
ICD-10-CM E79.1 is grouped within Diagnostic Related Group(s) (MS-DRG v36.0):
  • 642 Inborn and other disorders of metabolism

Convert E79.1 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
Code annotations containing back-references to E79.1:
  • Type 1 Excludes: D53.0
    ICD-10-CM Diagnosis Code D53.0

    Protein deficiency anemia

      2016 2017 2018 2019 Billable/Specific Code
    Applicable To
    • Amino-acid deficiency anemia
    • Orotaciduric anemia
    Type 1 Excludes
    • Lesch-Nyhan syndrome (E79.1)

Diagnosis Index entries containing back-references to E79.1:
  • Arthropathy M12.9
    - see also Arthritis
    ICD-10-CM Diagnosis Code M12.9

    Arthropathy, unspecified

      2016 2017 2018 2019 Billable/Specific Code
    • gouty - see also Gout
      • in (due to)
        • Lesch-Nyhan syndrome E79.1
  • Deficiency, deficient
    • hypoxanthine- E79.1 (guanine)-phosphoribosyltransferase (HG- PRT) (total H-PRT)
  • Lesch-Nyhan syndrome E79.1

ICD-10-CM Codes Adjacent To E79.1
E78.70 Disorder of bile acid and cholesterol metabolism, unspecified
E78.71 Barth syndrome
E78.72 Smith-Lemli-Opitz syndrome
E78.79 Other disorders of bile acid and cholesterol metabolism
E78.8 Other disorders of lipoprotein metabolism
E78.81 Lipoid dermatoarthritis
E78.89 Other lipoprotein metabolism disorders
E78.9 Disorder of lipoprotein metabolism, unspecified
E79 Disorders of purine and pyrimidine metabolism
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 metabolism
E79.9 Disorder of purine and pyrimidine metabolism, unspecified
E80 Disorders of porphyrin and bilirubin metabolism
E80.0 Hereditary erythropoietic porphyria
E80.1 Porphyria cutanea tarda
E80.2 Other and unspecified porphyria
E80.20 Unspecified porphyria
E80.21 Acute intermittent (hepatic) porphyria
E80.29 Other porphyria

Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes.