Krabbe disease
E76 Disorders of glycosaminoglycan metabolism Notes: Hunter’s syndrome ; Classic Morquio syndrome ; Morquio syndrome A ; Muc…
Disorders of glycosaminoglycan metabolism Notes: Hunter's syndrome ; Classic Morquio syndrome ; Morquio syndrome A ; Mucopolysaccharidosis, type IVA ; Morquio-like mucopolysaccharidoses ; Morquio-like ...
E77 Disorders of glycoprotein metabolism Notes: Mucolipidosis II [I-cell disease] ; Mucolipidosis III [pseudo-Hurler polydys…
Disorders of glycoprotein metabolism Notes: Mucolipidosis II ; Mucolipidosis III ; Aspartylglucosaminuria ; Fucosidosis ; Mannosidosis ; Sialidosis
E78.6 Lipoprotein deficiency Notes: Abetalipoproteinemia ; Depressed HDL cholesterol ; High-density lipoprotein deficiency ; H…
Lipoprotein deficiency Notes: Abetalipoproteinemia ; Depressed HDL cholesterol ; High-density lipoprotein deficiency ; Hypoalphalipoproteinemia ; Hypobetalipoproteinemia (familial) ; Lecithin choleste ...
E80 Disorders of porphyrin and bilirubin metabolism Notes: Congenital erythropoietic porphyria ; Erythropoietic protoporphyr…
Disorders of porphyrin and bilirubin metabolism Notes: Congenital erythropoietic porphyria ; Erythropoietic protoporphyria ; Porphyria NOS ; Hereditary coproporphyria ; Acatalasia ; Dubin-Johnson syn ...
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 ...