Tyrosinase negative oculocutaneous albinism Notes: Albinism I ; Oculocutaneous albinism ty-neg
E70.81 Aromatic L-amino acid decarboxylase deficiency Notes: AADC deficiency
Aromatic L-amino acid decarboxylase deficiency Notes: AADC deficiency
E71.3 Disorders of fatty-acid metabolism Notes: LCAD ; VLCAD ; MCAD ; SCAD ; Glutaric aciduria type II A ; Glutaric aciduria t…
Disorders of fatty-acid metabolism Notes: LCAD ; VLCAD ; MCAD ; SCAD ; Glutaric aciduria type II A ; Glutaric aciduria type II B ; Glutaric aciduria type II C ; peroxisomal disorders (E71.5) ; Refsum' ...
E71.44 Other secondary carnitine deficiency
Other secondary carnitine deficiency
E71.54 Other peroxisomal disorders Notes: chondrodysplasia punctata NOS (Q77.3)
Other peroxisomal disorders Notes: chondrodysplasia punctata NOS (Q77.3)
E72.12 Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency
E72.8 Other specified disorders of amino-acid metabolism Notes: 4-hydroxybutyric aciduria ; Disorders of GABA metabolism ; GAB…
Other specified disorders of amino-acid metabolism Notes: 4-hydroxybutyric aciduria ; Disorders of GABA metabolism ; GABA metabolic defect ; GABA transaminase deficiency ; GABA-T deficiency ; Gamma-hy ...
E27.0 Other adrenocortical overactivity Notes: Overproduction of ACTH, not associated with Cushing’s disease ; Premature adren…
Other adrenocortical overactivity Notes: Overproduction of ACTH, not associated with Cushing's disease ; Premature adrenarche ; Cushing's syndrome (E24.-)