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
E74.01 von Gierke disease Notes: Type I glycogen storage disease
von Gierke disease Notes: Type I glycogen storage disease
E74.39 Other disorders of intestinal carbohydrate absorption Notes: Disorder of intestinal carbohydrate absorption NOS ; Glucos…
Other disorders of intestinal carbohydrate absorption Notes: Disorder of intestinal carbohydrate absorption NOS ; Glucose-galactose malabsorption ; Sucrase deficiency
E75.10 Unspecified gangliosidosis Notes: Gangliosidosis NOS
Unspecified gangliosidosis Notes: Gangliosidosis NOS
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