| E70.0 | Classical phenylketonuria |
| E70.1 | Other hyperphenylalaninemias |
| E70.20 | Disorder of tyrosine metabolism, unspecified |
| E70.21 | Tyrosinemia |
| E70.29 | Other disorders of tyrosine metabolism |
| E70.30 | Albinism, unspecified |
| E70.310 | X-linked ocular albinism |
| E70.311 | Autosomal recessive ocular albinism |
| E70.318 | Other ocular albinism |
| E70.319 | Ocular albinism, unspecified |
| E70.320 | Tyrosinase negative oculocutaneous albinism |
| E70.321 | Tyrosinase positive oculocutaneous albinism |
| E70.328 | Other oculocutaneous albinism |
| E70.329 | Oculocutaneous albinism, unspecified |
| E70.330 | Chediak-Higashi syndrome |
| E70.331 | Hermansky-Pudlak syndrome |
| E70.338 | Other albinism with hematologic abnormality |
| E70.339 | Albinism with hematologic abnormality, unspecified |
| E70.39 | Other specified albinism |
| E70.40 | Disorders of histidine metabolism, unspecified |
| E70.41 | Histidinemia |
| E70.49 | Other disorders of histidine metabolism |
| E70.5 | Disorders of tryptophan metabolism |
| E70.81 | Aromatic L-amino acid decarboxylase deficiency |
| E70.89 | Other disorders of aromatic amino-acid metabolism |
| E70.9 | Disorder of aromatic amino-acid metabolism, unspecified |
| E71.0 | Maple-syrup-urine disease |
| E71.110 | Isovaleric acidemia |
| E71.111 | 3-methylglutaconic aciduria |
| E71.118 | Other branched-chain organic acidurias |
| E71.120 | Methylmalonic acidemia |
| E71.121 | Propionic acidemia |
| E71.128 | Other disorders of propionate metabolism |
| E71.19 | Other disorders of branched-chain amino-acid metabolism |
| E71.2 | Disorder of branched-chain amino-acid metabolism, unspecified |
| E71.310 | Long chain/very long chain acyl CoA dehydrogenase deficiency |
| E71.311 | Medium chain acyl CoA dehydrogenase deficiency |
| E71.312 | Short chain acyl CoA dehydrogenase deficiency |
| E71.313 | Glutaric aciduria type II |
| E71.314 | Muscle carnitine palmitoyltransferase deficiency |
| E71.318 | Other disorders of fatty-acid oxidation |
| E71.32 | Disorders of ketone metabolism |
| E71.39 | Other disorders of fatty-acid metabolism |
| E71.50 | Peroxisomal disorder, unspecified |
| E71.510 | Zellweger syndrome |
| E71.511 | Neonatal adrenoleukodystrophy |
| E71.518 | Other disorders of peroxisome biogenesis |
| E71.520 | Childhood cerebral X-linked adrenoleukodystrophy |
| E71.521 | Adolescent X-linked adrenoleukodystrophy |
| E71.522 | Adrenomyeloneuropathy |
| E71.528 | Other X-linked adrenoleukodystrophy |
| E71.529 | X-linked adrenoleukodystrophy, unspecified type |
| E71.53 | Other group 2 peroxisomal disorders |
| E71.540 | Rhizomelic chondrodysplasia punctata |
| E71.541 | Zellweger-like syndrome |
| E71.542 | Other group 3 peroxisomal disorders |
| E71.548 | Other peroxisomal disorders |
| E72.00 | Disorders of amino-acid transport, unspecified |
| E72.01 | Cystinuria |
| E72.02 | Hartnup's disease |
| E72.03 | Lowe's syndrome |
| E72.04 | Cystinosis |
| E72.09 | Other disorders of amino-acid transport |
| E72.10 | Disorders of sulfur-bearing amino-acid metabolism, unspecified |
| E72.11 | Homocystinuria |
| E72.12 | Methylenetetrahydrofolate reductase deficiency |
| E72.19 | Other disorders of sulfur-bearing amino-acid metabolism |
| E72.20 | Disorder of urea cycle metabolism, unspecified |
| E72.21 | Argininemia |
| E72.22 | Arginosuccinic aciduria |
| E72.23 | Citrullinemia |
| E72.29 | Other disorders of urea cycle metabolism |
| E72.3 | Disorders of lysine and hydroxylysine metabolism |
| E72.4 | Disorders of ornithine metabolism |
| E72.50 | Disorder of glycine metabolism, unspecified |
| E72.51 | Non-ketotic hyperglycinemia |
| E72.52 | Trimethylaminuria |
| E72.530 | Primary hyperoxaluria, type 1 |
| E72.538 | Other specified primary hyperoxaluria |
| E72.539 | Primary hyperoxaluria, unspecified |
| E72.59 | Other disorders of glycine metabolism |
| E72.81 | Disorders of gamma aminobutyric acid metabolism |
| E72.89 | Other specified disorders of amino-acid metabolism |
| E72.9 | Disorder of amino-acid metabolism, unspecified |
| E74.00 | Glycogen storage disease, unspecified |
| E74.01 | von Gierke disease |
| E74.02 | Pompe disease |
| E74.03 | Cori disease |
| E74.04 | McArdle disease |
| E74.05 | Lysosome-associated membrane protein 2 [LAMP2] deficiency |
| E74.09 | Other glycogen storage disease |
| E74.20 | Disorders of galactose metabolism, unspecified |
| E74.21 | Galactosemia |
| E74.29 | Other disorders of galactose metabolism |
| E74.4 | Disorders of pyruvate metabolism and gluconeogenesis |
| E74.810 | Glucose transporter protein type 1 deficiency |
| E74.818 | Other disorders of glucose transport |
| E74.819 | Disorders of glucose transport, unspecified |
| E74.820 | SLC13A5 Citrate Transporter Disorder |
| E74.829 | Other disorders of citrate metabolism |
| E74.89 | Other specified disorders of carbohydrate metabolism |
| E75.00 | GM2 gangliosidosis, unspecified |
| E75.01 | Sandhoff disease |
| E75.02 | Tay-Sachs disease |
| E75.09 | Other GM2 gangliosidosis |
| E75.10 | Unspecified gangliosidosis |
| E75.11 | Mucolipidosis IV |
| E75.19 | Other gangliosidosis |
| E75.23 | Krabbe disease |
| E75.25 | Metachromatic leukodystrophy |
| E75.26 | Sulfatase deficiency |
| E75.27 | Pelizaeus-Merzbacher disease |
| E75.28 | Canavan disease |
| E75.29 | Other sphingolipidosis |
| E75.4 | Neuronal ceroid lipofuscinosis |
| E76.01 | Hurler's syndrome |
| E76.02 | Hurler-Scheie syndrome |
| E76.03 | Scheie's syndrome |
| E76.1 | Mucopolysaccharidosis, type II |
| E76.210 | Morquio A mucopolysaccharidoses |
| E76.211 | Morquio B mucopolysaccharidoses |
| E76.219 | Morquio mucopolysaccharidoses, unspecified |
| E76.22 | Sanfilippo mucopolysaccharidoses |
| E76.29 | Other mucopolysaccharidoses |
| E76.3 | Mucopolysaccharidosis, unspecified |
| E76.8 | Other disorders of glucosaminoglycan metabolism |
| E76.9 | Glucosaminoglycan metabolism disorder, unspecified |
| E78.71 | Barth syndrome |
| E78.72 | Smith-Lemli-Opitz syndrome |
| E79.1 | Lesch-Nyhan syndrome |
| E79.2 | Myoadenylate deaminase deficiency |
| E79.81 | Aicardi-Goutieres syndrome |
| E79.82 | Hereditary xanthinuria |
| E79.89 | Other specified disorders of purine and pyrimidine metabolism |
| E79.9 | Disorder of purine and pyrimidine metabolism, unspecified |
| E80.0 | Hereditary erythropoietic porphyria |
| E80.1 | Porphyria cutanea tarda |
| E80.20 | Unspecified porphyria |
| E80.21 | Acute intermittent (hepatic) porphyria |
| E80.29 | Other porphyria |
| E80.3 | Defects of catalase and peroxidase |
| E83.820 | Generalized arterial calcification of infancy with unspecified genetic causality |
| E83.821 | ENPP1 deficiency causing generalized arterial calcification of infancy |
| E83.823 | ABCC6 deficiency causing generalized arterial calcification of infancy |
| E83.825 | CD73 deficiency causing arterial calcification |
| E84.19 | Cystic fibrosis with other intestinal manifestations |
| E84.8 | Cystic fibrosis with other manifestations |
| E84.9 | Cystic fibrosis, unspecified |
| E85.0 | Non-neuropathic heredofamilial amyloidosis |
| E85.1 | Neuropathic heredofamilial amyloidosis |
| E85.2 | Heredofamilial amyloidosis, unspecified |
| E85.3 | Secondary systemic amyloidosis |
| E85.4 | Organ-limited amyloidosis |
| E85.81 | Light chain (AL) amyloidosis |
| E85.82 | Wild-type transthyretin-related (ATTR) amyloidosis |
| E85.89 | Other amyloidosis |
| E85.9 | Amyloidosis, unspecified |
| E87.0 | Hyperosmolality and hypernatremia |
| E87.1 | Hypo-osmolality and hyponatremia |
| E87.20 | Acidosis, unspecified |
| E87.21 | Acute metabolic acidosis |
| E87.22 | Chronic metabolic acidosis |
| E87.29 | Other acidosis |
| E87.3 | Alkalosis |
| E87.4 | Mixed disorder of acid-base balance |
| E88.02 | Plasminogen deficiency |
| E88.40 | Mitochondrial metabolism disorder, unspecified |
| E88.41 | MELAS syndrome |
| E88.42 | MERRF syndrome |
| E88.43 | Disorders of mitochondrial tRNA synthetases |
| E88.49 | Other mitochondrial metabolism disorders |
