E72.11 Homocystinuria

Instructional Notes:

E72.11
Description: Homocystinuria
Inclusion Term:
- Cystathionine synthase deficiency
↓
E72.1
Description: Disorders of sulfur-bearing amino-acid metabolism
Exclude1:
- cystinosis (E72.04)
- cystinuria (E72.01)
- transcobalamin II deficiency (D51.2)
↓
E72
Description: Other disorders of amino-acid metabolism
Exclude1:
- disorders of:
- aromatic amino-acid metabolism (E70.-)
- branched-chain amino-acid metabolism (E71.0-E71.2)
- fatty-acid metabolism (E71.3)
- purine and pyrimidine metabolism (E79.-)
- gout (M1A.-, M10.-)
↓
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.