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
E74.04 McArdle disease Notes: Type V glycogen storage disease
McArdle disease Notes: Type V glycogen storage disease
E74.81 Disorders of glucose transport, not elsewhere classified Notes: De Vivo syndrome ; Glucose transport defect, blood-brain…
Disorders of glucose transport, not elsewhere classified Notes: De Vivo syndrome ; Glucose transport defect, blood-brain barrier ; Glut1 deficiency ; GLUT1 deficiency syndrome 1, infantile onset ; GLU ...
E75.2 Other sphingolipidosis Notes: Acid sphingomyelinase deficiency (ASMD) ; Acid sphingomyelinase deficiency type A (ASMD ty…
Other sphingolipidosis Notes: Acid sphingomyelinase deficiency (ASMD) ; Acid sphingomyelinase deficiency type A (ASMD type A) ; Infantile neurovisceral acid sphingomyelinase deficiency ; Acid sphingom ...
E75.4 Neuronal ceroid lipofuscinosis Notes: Batten disease ; Bielschowsky-Jansky disease ; Kufs disease ; Spielmeyer-Vogt dise…
Neuronal ceroid lipofuscinosis Notes: Batten disease ; Bielschowsky-Jansky disease ; Kufs disease ; Spielmeyer-Vogt disease
E76.8 Other disorders of glucosaminoglycan metabolism
Other disorders of glucosaminoglycan metabolism
E78.49 Other hyperlipidemia Notes: Familial combined hyperlipidemia
Other hyperlipidemia Notes: Familial combined hyperlipidemia