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
E78.49 Other hyperlipidemia Notes: Familial combined hyperlipidemia
Other hyperlipidemia Notes: Familial combined hyperlipidemia
E79.8 Other disorders of purine and pyrimidine metabolism Notes: Hereditary xanthinuria
Other disorders of purine and pyrimidine metabolism Notes: Hereditary xanthinuria
E83.00 Disorder of copper metabolism, unspecified
Disorder of copper metabolism, unspecified