| C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
| C966 | Unifocal Langerhans-cell histiocytosis |
| D813 | Adenosine deaminase [ADA] deficiency |
| D815 | Purine nucleoside phosphorylase [PNP] deficiency |
| D81810 | Biotinidase deficiency |
| D841 | Defects in the complement system |
| E700 | Classical phenylketonuria |
| E701 | Other hyperphenylalaninemias |
| E7020 | Disorder of tyrosine metabolism, unspecified |
| E7021 | Tyrosinemia |
| E7029 | Other disorders of tyrosine metabolism |
| E7030 | Albinism, unspecified |
| E70310 | X-linked ocular albinism |
| E70311 | Autosomal recessive ocular albinism |
| E70318 | Other ocular albinism |
| E70319 | Ocular albinism, unspecified |
| E70320 | Tyrosinase negative oculocutaneous albinism |
| E70321 | Tyrosinase positive oculocutaneous albinism |
| E70328 | Other oculocutaneous albinism |
| E70329 | Oculocutaneous albinism, unspecified |
| E70330 | Chediak-Higashi syndrome |
| E70331 | Hermansky-Pudlak syndrome |
| E70338 | Other albinism with hematologic abnormality |
| E70339 | Albinism with hematologic abnormality, unspecified |
| E7039 | Other specified albinism |
| E7040 | Disorders of histidine metabolism, unspecified |
| E7041 | Histidinemia |
| E7049 | Other disorders of histidine metabolism |
| E705 | Disorders of tryptophan metabolism |
| E708 | Other disorders of aromatic amino-acid metabolism |
| E709 | Disorder of aromatic amino-acid metabolism, unspecified |
| E710 | Maple-syrup-urine disease |
| E71110 | Isovaleric acidemia |
| E71111 | 3-methylglutaconic aciduria |
| E71118 | Other branched-chain organic acidurias |
| E71120 | Methylmalonic acidemia |
| E71121 | Propionic acidemia |
| E71128 | Other disorders of propionate metabolism |
| E7119 | Other disorders of branched-chain amino-acid metabolism |
| E712 | Disorder of branched-chain amino-acid metabolism, unspecified |
| E7130 | Disorder of fatty-acid metabolism, unspecified |
| E71310 | Long chain/very long chain acyl CoA dehydrogenase deficiency |
| E71311 | Medium chain acyl CoA dehydrogenase deficiency |
| E71312 | Short chain acyl CoA dehydrogenase deficiency |
| E71313 | Glutaric aciduria type II |
| E71314 | Muscle carnitine palmitoyltransferase deficiency |
| E71318 | Other disorders of fatty-acid oxidation |
| E7132 | Disorders of ketone metabolism |
| E7139 | Other disorders of fatty-acid metabolism |
| E7140 | Disorder of carnitine metabolism, unspecified |
| E7141 | Primary carnitine deficiency |
| E7142 | Carnitine deficiency due to inborn errors of metabolism |
| E7143 | Iatrogenic carnitine deficiency |
| E71440 | Ruvalcaba-Myhre-Smith syndrome |
| E71448 | Other secondary carnitine deficiency |
| E7150 | Peroxisomal disorder, unspecified |
| E71510 | Zellweger syndrome |
| E71511 | Neonatal adrenoleukodystrophy |
| E71518 | Other disorders of peroxisome biogenesis |
| E71520 | Childhood cerebral X-linked adrenoleukodystrophy |
| E71521 | Adolescent X-linked adrenoleukodystrophy |
| E71522 | Adrenomyeloneuropathy |
| E71528 | Other X-linked adrenoleukodystrophy |
| E71529 | X-linked adrenoleukodystrophy, unspecified type |
| E7153 | Other group 2 peroxisomal disorders |
| E71540 | Rhizomelic chondrodysplasia punctata |
| E71541 | Zellweger-like syndrome |
| E71542 | Other group 3 peroxisomal disorders |
| E71548 | Other peroxisomal disorders |
| E7200 | Disorders of amino-acid transport, unspecified |
| E7201 | Cystinuria |
| E7202 | Hartnup's disease |
| E7203 | Lowe's syndrome |
| E7204 | Cystinosis |
| E7209 | Other disorders of amino-acid transport |
| E7210 | Disorders of sulfur-bearing amino-acid metabolism, unspecified |
| E7211 | Homocystinuria |
| E7212 | Methylenetetrahydrofolate reductase deficiency |
| E7219 | Other disorders of sulfur-bearing amino-acid metabolism |
| E7220 | Disorder of urea cycle metabolism, unspecified |
| E7221 | Argininemia |
| E7222 | Arginosuccinic aciduria |
| E7223 | Citrullinemia |
| E7229 | Other disorders of urea cycle metabolism |
| E723 | Disorders of lysine and hydroxylysine metabolism |
| E724 | Disorders of ornithine metabolism |
| E7250 | Disorder of glycine metabolism, unspecified |
| E7251 | Non-ketotic hyperglycinemia |
| E7252 | Trimethylaminuria |
| E7253 | Hyperoxaluria |
| E7259 | Other disorders of glycine metabolism |
| E728 | Other specified disorders of amino-acid metabolism |
| E729 | Disorder of amino-acid metabolism, unspecified |
| E7400 | Glycogen storage disease, unspecified |
| E7401 | von Gierke disease |
| E7402 | Pompe disease |
| E7403 | Cori disease |
| E7404 | McArdle disease |
| E7409 | Other glycogen storage disease |
| E7420 | Disorders of galactose metabolism, unspecified |
| E7421 | Galactosemia |
| E7429 | Other disorders of galactose metabolism |
| E744 | Disorders of pyruvate metabolism and gluconeogenesis |
| E748 | Other specified disorders of carbohydrate metabolism |
| E749 | Disorder of carbohydrate metabolism, unspecified |
| E7521 | Fabry (-Anderson) disease |
| E7522 | Gaucher disease |
| E75240 | Niemann-Pick disease type A |
| E75241 | Niemann-Pick disease type B |
| E75242 | Niemann-Pick disease type C |
| E75243 | Niemann-Pick disease type D |
| E75248 | Other Niemann-Pick disease |
| E75249 | Niemann-Pick disease, unspecified |
| E753 | Sphingolipidosis, unspecified |
| E755 | Other lipid storage disorders |
| E756 | Lipid storage disorder, unspecified |
| E7601 | Hurler's syndrome |
| E7602 | Hurler-Scheie syndrome |
| E7603 | Scheie's syndrome |
| E761 | Mucopolysaccharidosis, type II |
| E76210 | Morquio A mucopolysaccharidoses |
| E76211 | Morquio B mucopolysaccharidoses |
| E76219 | Morquio mucopolysaccharidoses, unspecified |
| E7622 | Sanfilippo mucopolysaccharidoses |
| E7629 | Other mucopolysaccharidoses |
| E763 | Mucopolysaccharidosis, unspecified |
| E768 | Other disorders of glucosaminoglycan metabolism |
| E769 | Glucosaminoglycan metabolism disorder, unspecified |
| E770 | Defects in post-translational modification of lysosomal enzymes |
| E771 | Defects in glycoprotein degradation |
| E778 | Other disorders of glycoprotein metabolism |
| E779 | Disorder of glycoprotein metabolism, unspecified |
| E780 | Pure hypercholesterolemia |
| E781 | Pure hyperglyceridemia |
| E782 | Mixed hyperlipidemia |
| E783 | Hyperchylomicronemia |
| E784 | Other hyperlipidemia |
| E785 | Hyperlipidemia, unspecified |
| E786 | Lipoprotein deficiency |
| E7870 | Disorder of bile acid and cholesterol metabolism, unspecified |
| E7879 | Other disorders of bile acid and cholesterol metabolism |
| E7881 | Lipoid dermatoarthritis |
| E7889 | Other lipoprotein metabolism disorders |
| E789 | Disorder of lipoprotein metabolism, unspecified |
| E791 | Lesch-Nyhan syndrome |
| E792 | Myoadenylate deaminase deficiency |
| E798 | Other disorders of purine and pyrimidine metabolism |
| E799 | Disorder of purine and pyrimidine metabolism, unspecified |
| E800 | Hereditary erythropoietic porphyria |
| E801 | Porphyria cutanea tarda |
| E8020 | Unspecified porphyria |
| E8021 | Acute intermittent (hepatic) porphyria |
| E8029 | Other porphyria |
| E803 | Defects of catalase and peroxidase |
| E8300 | Disorder of copper metabolism, unspecified |
| E8301 | Wilson's disease |
| E8309 | Other disorders of copper metabolism |
| E8310 | Disorder of iron metabolism, unspecified |
| E83110 | Hereditary hemochromatosis |
| E83111 | Hemochromatosis due to repeated red blood cell transfusions |
| E83118 | Other hemochromatosis |
| E83119 | Hemochromatosis, unspecified |
| E8319 | Other disorders of iron metabolism |
| E8330 | Disorder of phosphorus metabolism, unspecified |
| E8331 | Familial hypophosphatemia |
| E8332 | Hereditary vitamin D-dependent rickets (type 1) (type 2) |
| E8339 | Other disorders of phosphorus metabolism |
| E8389 | Other disorders of mineral metabolism |
| E839 | Disorder of mineral metabolism, unspecified |
| E8801 | Alpha-1-antitrypsin deficiency |
| E881 | Lipodystrophy, not elsewhere classified |
| E882 | Lipomatosis, not elsewhere classified |
| E8840 | Mitochondrial metabolism disorder, unspecified |
| E8841 | MELAS syndrome |
| E8842 | MERRF syndrome |
| E8849 | Other mitochondrial metabolism disorders |
| E8881 | Metabolic syndrome |
| E8889 | Other specified metabolic disorders |
| E889 | Metabolic disorder, unspecified |
| H49811 | Kearns-Sayre syndrome, right eye |
| H49812 | Kearns-Sayre syndrome, left eye |
| H49813 | Kearns-Sayre syndrome, bilateral |
| H49819 | Kearns-Sayre syndrome, unspecified eye |
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