Niemann-Pick disease type B Notes: Acid sphingomyelinase deficiency type B (ASMD type B) ; Chronic visceral acid sphingomyelinase deficiency
E76.02 Hurler-Scheie syndrome
Hurler-Scheie syndrome
E77.8 Other disorders of glycoprotein metabolism
Other disorders of glycoprotein metabolism
E80.2 Other and unspecified porphyria Notes: Porphyria NOS ; Hereditary coproporphyria
Other and unspecified porphyria Notes: Porphyria NOS ; Hereditary coproporphyria
E74.2 Disorders of galactose metabolism Notes: Galactokinase deficiency
Disorders of galactose metabolism Notes: Galactokinase deficiency
E75.0 GM2 gangliosidosis Notes: Adult GM2 gangliosidosis ; Juvenile GM2 gangliosidosis
GM2 gangliosidosis Notes: Adult GM2 gangliosidosis ; Juvenile GM2 gangliosidosis
E75.242 Niemann-Pick disease type C
Niemann-Pick disease type C
