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
E74.12 Hereditary fructose intolerance Notes: Fructosemia
Hereditary fructose intolerance Notes: Fructosemia
E74.9 Disorder of carbohydrate metabolism, unspecified
Disorder of carbohydrate metabolism, unspecified
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