Disorders of purine and pyrimidine metabolism Notes: Asymptomatic hyperuricemia ; HGPRT deficiency ; Hereditary xanthinuria ; Ataxia-telangiectasia (Q87.19) ; Bloom's syndrome (Q82.8) ; Cockayne's syn ...
E80.6 Other disorders of bilirubin metabolism Notes: Dubin-Johnson syndrome ; Rotor’s syndrome
Other disorders of bilirubin metabolism Notes: Dubin-Johnson syndrome ; Rotor's syndrome
E74.02 Pompe disease Notes: Cardiac glycogenosis ; Type II glycogen storage disease
Pompe disease Notes: Cardiac glycogenosis ; Type II glycogen storage disease
E74.4 Disorders of pyruvate metabolism and gluconeogenesis Notes: Deficiency of phosphoenolpyruvate carboxykinase ; Deficiency…
Disorders of pyruvate metabolism and gluconeogenesis Notes: Deficiency of phosphoenolpyruvate carboxykinase ; Deficiency of pyruvate carboxylase ; Deficiency of pyruvate dehydrogenase ; disorders of p ...
E75.29 Other sphingolipidosis Notes: Farber’s syndrome ; Sulfatide lipidosis
Other sphingolipidosis Notes: Farber's syndrome ; Sulfatide lipidosis
E76.22 Sanfilippo mucopolysaccharidoses Notes: Mucopolysaccharidosis, type III (A) (B) (C) (D) ; Sanfilippo A syndrome ; Sanfil…
Sanfilippo mucopolysaccharidoses Notes: Mucopolysaccharidosis, type III (A) (B) (C) (D) ; Sanfilippo A syndrome ; Sanfilippo B syndrome ; Sanfilippo C syndrome ; Sanfilippo D syndrome
E78.3 Hyperchylomicronemia Notes: Chylomicron retention disease ; Fredrickson’s hyperlipoproteinemia, type I or V ; Hyperlipid…
Hyperchylomicronemia Notes: Chylomicron retention disease ; Fredrickson's hyperlipoproteinemia, type I or V ; Hyperlipidemia, group D ; Mixed hyperglyceridemia