Sphingolipidosis, unspecified
E76.29 Other mucopolysaccharidoses Notes: beta-Glucuronidase deficiency ; Maroteaux-Lamy (mild) (severe) syndrome ; Mucopolysac…
Other mucopolysaccharidoses Notes: beta-Glucuronidase deficiency ; Maroteaux-Lamy (mild) (severe) syndrome ; Mucopolysaccharidosis, types VI, VII
E78.4 Other hyperlipidemia Notes: Elevated Lp(a) ; Familial combined hyperlipidemia
Other hyperlipidemia Notes: Elevated Lp(a) ; Familial combined hyperlipidemia
E79.1 Lesch-Nyhan syndrome Notes: HGPRT deficiency
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 ...
E74.04 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 ...