Neuronal ceroid lipofuscinosis Notes: Batten disease ; Bielschowsky-Jansky disease ; Kufs disease ; Spielmeyer-Vogt disease
E76.3 Mucopolysaccharidosis, unspecified
Mucopolysaccharidosis, unspecified
E78.41 Elevated Lipoprotein(a) Notes: Elevated Lp(a)
Elevated Lipoprotein(a) Notes: Elevated Lp(a)
E79.2 Myoadenylate deaminase deficiency
Myoadenylate deaminase deficiency
E83.0 Disorders of copper metabolism Notes: Menkes’ (kinky hair) (steely hair) disease
Disorders of copper metabolism Notes: Menkes' (kinky hair) (steely hair) disease
E74.09 Other glycogen storage disease Notes: Andersen disease ; Hers disease ; Tauri disease ; Glycogen storage disease, types …
Other glycogen storage disease Notes: Andersen disease ; Hers disease ; Tauri disease ; Glycogen storage disease, types 0, IV, VI-XI ; Liver phosphorylase deficiency ; Muscle phosphofructokinase defic ...
E74.810 Glucose transporter protein type 1 deficiency Notes: De Vivo syndrome ; Glucose transport defect, blood-brain barrier ; …
Glucose transporter protein type 1 deficiency Notes: De Vivo syndrome ; Glucose transport defect, blood-brain barrier ; Glut1 deficiency ; GLUT1 deficiency syndrome 1, infantile onset ; GLUT1 deficien ...
E75.21 Fabry (-Anderson) disease
Fabry (-Anderson) disease