E79.1 Lesch-Nyhan syndrome

Instructional Notes:

E79.1
Description: Lesch-Nyhan syndrome
Inclusion Term:
- HGPRT deficiency
↓
E79
Description: Disorders of purine and pyrimidine metabolism
Exclude1:
- Ataxia-telangiectasia (Q87.19)
- Bloom's syndrome (Q82.8)
- Cockayne's syndrome (Q87.19)
- calculus of kidney (N20.0)
- combined immunodeficiency disorders (D81.-)
- Fanconi's anemia (D61.09)
- gout (M1A.-, M10.-)
- orotaciduric anemia (D53.0)
- progeria (E34.8)
- Werner's syndrome (E34.8)
- xeroderma pigmentosum (Q82.1)
↓
E70-E88
Description: Metabolic disorders (E70-E88)
Exclude1:
- androgen insensitivity syndrome (E34.5-)
- congenital adrenal hyperplasia (E25.0)
- hemolytic anemias attributable to enzyme disorders (D55.-)
- Marfan syndrome (Q87.4-)
- 5-alpha-reductase deficiency (E29.1)
Exclude2:
- Ehlers-Danlos syndromes (Q79.6-)
↓
E00-E89
Description: Endocrine, nutritional and metabolic diseases
Exclude1:
- transitory endocrine and metabolic disorders specific to newborn (P70-P74)
Notes:
- 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.