Familial hypophosphatemia Notes: Vitamin D-resistant osteomalacia ; Vitamin D-resistant rickets ; vitamin D-deficiency rickets (E55.0)
E83.9 Disorder of mineral metabolism, unspecified
Disorder of mineral metabolism, unspecified
E85.82 Wild-type transthyretin-related (ATTR) amyloidosis Notes: Senile systemic amyloidosis (SSA)
Wild-type transthyretin-related (ATTR) amyloidosis Notes: Senile systemic amyloidosis (SSA)
E87.4 Mixed disorder of acid-base balance
Mixed disorder of acid-base balance
E88.4 Mitochondrial metabolism disorders Notes: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episod…
Mitochondrial metabolism disorders Notes: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes ; Myoclonic epilepsy associated with ragged-red fibers ; disorders of pyruvat ...
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 ...