Morquio mucopolysaccharidoses, unspecified Notes: Morquio syndrome ; Mucopolysaccharidosis, type IV
E78.2 Mixed hyperlipidemia Notes: Broad- or floating-betalipoproteinemia ; Combined hyperlipidemia NOS ; Elevated cholesterol …
Mixed hyperlipidemia Notes: Broad- or floating-betalipoproteinemia ; Combined hyperlipidemia NOS ; Elevated cholesterol with elevated triglycerides NEC ; Fredrickson's hyperlipoproteinemia, type IIb o ...
E79 Disorders of purine and pyrimidine metabolism Notes: Asymptomatic hyperuricemia ; HGPRT deficiency ; Hereditary xanthinu…
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