Other disorders of copper metabolism Notes: Menkes' (kinky hair) (steely hair) disease
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 ...
E76.0 Mucopolysaccharidosis, type I
Mucopolysaccharidosis, type I
E77.0 Defects in post-translational modification of lysosomal enzymes Notes: Mucolipidosis II [I-cell disease] ; Mucolipidosis…
Defects in post-translational modification of lysosomal enzymes Notes: Mucolipidosis II ; Mucolipidosis III
E78.7 Disorders of bile acid and cholesterol metabolism Notes: Niemann-Pick disease type C (E75.242)
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
