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
E75.24 Niemann-Pick disease Notes: Acid sphingomyelinase deficiency (ASMD) ; Acid sphingomyelinase deficiency type A (ASMD type…
Niemann-Pick disease Notes: Acid sphingomyelinase deficiency (ASMD) ; Acid sphingomyelinase deficiency type A (ASMD type A) ; Infantile neurovisceral acid sphingomyelinase deficiency ; Acid sphingomye ...
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
E80.1 Porphyria cutanea tarda
Porphyria cutanea tarda

