Disorders of mineral metabolism Notes: Menkes' (kinky hair) (steely hair) disease ; Bronzed diabetes ; Pigmentary cirrhosis (of liver) ; Primary (hereditary) hemochromatosis ; Iron overload due to rep ...
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
E76.3 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