E75.240 Niemann-Pick disease type A

Instructional Notes:

E75.240
Description: Niemann-Pick disease type A
Inclusion Term:
- Acid sphingomyelinase deficiency type A (ASMD type A)
- Infantile neurovisceral acid sphingomyelinase deficiency
↓
E75.24
Description: Niemann-Pick disease
Inclusion Term:
- Acid sphingomyelinase deficiency (ASMD)
↓
E75.2
Description: Other sphingolipidosis
Exclude1:
- adrenoleukodystrophy [Addison-Schilder] (E71.528)
↓
E75
Description: Disorders of sphingolipid metabolism and other lipid storage disorders
Exclude1:
- mucolipidosis, types I-III (E77.0-E77.1)
- Refsum's disease (G60.1)
↓
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.