Disorders of aromatic amino-acid metabolism Notes: Hypertyrosinemia ; Alkaptonuria ; Ochronosis ; Albinism I ; Oculocutaneous albinism ty-neg ; Albinism II ; Oculocutaneous albinism ty-pos ; Cross syn ...
E70.321 Tyrosinase positive oculocutaneous albinism Notes: Albinism II ; Oculocutaneous albinism ty-pos
Tyrosinase positive oculocutaneous albinism Notes: Albinism II ; Oculocutaneous albinism ty-pos
E70.89 Other disorders of aromatic amino-acid metabolism
Other disorders of aromatic amino-acid metabolism
E71.30 Disorder of fatty-acid metabolism, unspecified
Disorder of fatty-acid metabolism, unspecified
E71.440 Ruvalcaba-Myhre-Smith syndrome
Ruvalcaba-Myhre-Smith syndrome
E71.540 Rhizomelic chondrodysplasia punctata Notes: chondrodysplasia punctata NOS (Q77.3)
Rhizomelic chondrodysplasia punctata Notes: chondrodysplasia punctata NOS (Q77.3)
E72.19 Other disorders of sulfur-bearing amino-acid metabolism Notes: Cystathioninuria ; Methioninemia ; Sulfite oxidase defici…
Other disorders of sulfur-bearing amino-acid metabolism Notes: Cystathioninuria ; Methioninemia ; Sulfite oxidase deficiency
E72.81 Disorders of gamma aminobutyric acid metabolism Notes: 4-hydroxybutyric aciduria ; Disorders of GABA metabolism ; GABA m…
Disorders of gamma aminobutyric acid metabolism Notes: 4-hydroxybutyric aciduria ; Disorders of GABA metabolism ; GABA metabolic defect ; GABA transaminase deficiency ; GABA-T deficiency ; Gamma-hydro ...