Niemann-Pick disease type A Notes: Acid sphingomyelinase deficiency type A (ASMD type A) ; Infantile neurovisceral acid sphingomyelinase deficiency
E77.1 Defects in glycoprotein degradation Notes: Aspartylglucosaminuria ; Fucosidosis ; Mannosidosis ; Sialidosis [mucolipidos…
Defects in glycoprotein degradation Notes: Aspartylglucosaminuria ; Fucosidosis ; Mannosidosis ; Sialidosis
E80.2 Other and unspecified porphyria Notes: Porphyria NOS ; Hereditary coproporphyria
Other and unspecified porphyria Notes: Porphyria NOS ; Hereditary coproporphyria
E74.19 Other disorders of fructose metabolism Notes: Fructose-1, 6-diphosphatase deficiency
Other disorders of fructose metabolism Notes: Fructose-1, 6-diphosphatase deficiency
E75 Disorders of sphingolipid metabolism and other lipid storage disorders Notes: Adult GM2 gangliosidosis ; Juvenile GM2 ga…
Disorders of sphingolipid metabolism and other lipid storage disorders Notes: Adult GM2 gangliosidosis ; Juvenile GM2 gangliosidosis ; Gangliosidosis NOS ; GM1 gangliosidosis ; GM3 gangliosidosis ; Ac ...
E75.241 Niemann-Pick disease type B Notes: Acid sphingomyelinase deficiency type B (ASMD type B) ; Chronic visceral acid sphingo…
Niemann-Pick disease type B Notes: Acid sphingomyelinase deficiency type B (ASMD type B) ; Chronic visceral acid sphingomyelinase deficiency