Lesch-Nyhan syndrome Notes: HGPRT deficiency
E83 Disorders of mineral metabolism Notes: Menkes’ (kinky hair) (steely hair) disease ; Bronzed diabetes ; Pigmentary cirrho…
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 ...
E74.03 Cori disease Notes: Forbes disease ; Type III glycogen storage disease
Cori disease Notes: Forbes disease ; Type III glycogen storage disease
E74.8 Other specified disorders of carbohydrate metabolism Notes: De Vivo syndrome ; Glucose transport defect, blood-brain bar…
Other specified disorders of carbohydrate metabolism Notes: De Vivo syndrome ; Glucose transport defect, blood-brain barrier ; Glut1 deficiency ; GLUT1 deficiency syndrome 1, infantile onset ; GLUT1 d ...
E61.5 Molybdenum deficiency
Molybdenum deficiency
E64.9 Sequelae of unspecified nutritional deficiency
Sequelae of unspecified nutritional deficiency
E67.8 Other specified hyperalimentation
Other specified hyperalimentation
E70.32 Oculocutaneous albinism Notes: Albinism I ; Oculocutaneous albinism ty-neg ; Albinism II ; Oculocutaneous albinism ty-po…
Oculocutaneous albinism Notes: Albinism I ; Oculocutaneous albinism ty-neg ; Albinism II ; Oculocutaneous albinism ty-pos ; Cross syndrome ; Chediak-Higashi syndrome (E70.330) ; Hermansky-Pudlak syndr ...