E78.72 Smith-Lemli-Opitz syndrome

Instructional Notes:

E78.72
Description: Smith-Lemli-Opitz syndrome
↓
E78.7
Description: Disorders of bile acid and cholesterol metabolism
Exclude1:
- Niemann-Pick disease type C (E75.242)
↓
E78
Description: Disorders of lipoprotein metabolism and other lipidemias
Exclude1:
- sphingolipidosis (E75.0-E75.3)
↓
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.