Disorders of bile acid and cholesterol metabolism Notes: Niemann-Pick disease type C (E75.242)
E80.0 Hereditary erythropoietic porphyria Notes: Congenital erythropoietic porphyria ; Erythropoietic protoporphyria
Hereditary erythropoietic porphyria Notes: Congenital erythropoietic porphyria ; Erythropoietic protoporphyria
E74.11 Essential fructosuria Notes: Fructokinase deficiency
Essential fructosuria Notes: Fructokinase deficiency
E74.89 Other specified disorders of carbohydrate metabolism Notes: Essential pentosuria
Other specified disorders of carbohydrate metabolism Notes: Essential pentosuria
E75.240 Niemann-Pick disease type A Notes: Acid sphingomyelinase deficiency type A (ASMD type A) ; Infantile neurovisceral acid …
Niemann-Pick disease type A Notes: Acid sphingomyelinase deficiency type A (ASMD type A) ; Infantile neurovisceral acid sphingomyelinase deficiency
E77.1 Defects in glycoprotein degradation Notes: Aspartylglucosaminuria ; Fucosidosis ; Mannosidosis ; Sialidosis [mucolipidos…
Defects in glycoprotein degradation Notes: Aspartylglucosaminuria ; Fucosidosis ; Mannosidosis ; Sialidosis
E78.70 Disorder of bile acid and cholesterol metabolism, unspecified
Disorder of bile acid and cholesterol metabolism, unspecified

