642 - Inborn And Other Disorders Of Metabolism
- C96.5 - Multifocal and unisystemic Langerhans-cell histiocytosis
- C96.6 - Unifocal Langerhans-cell histiocytosis
- D81.30 - Adenosine deaminase deficiency, unspecified
- D81.31 - Severe combined immunodeficiency due to adenosine deaminase deficiency
- D81.32 - Adenosine deaminase 2 deficiency
- D81.39 - Other adenosine deaminase deficiency
- D81.5 - Purine nucleoside phosphorylase [PNP] deficiency
- D81.810 - Biotinidase deficiency
- D84.1 - Defects in the complement system
- 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
- E71.30 - Disorder of fatty-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
- E71.40 - Disorder of carnitine metabolism, unspecified
- E71.41 - Primary carnitine deficiency
- E71.42 - Carnitine deficiency due to inborn errors of metabolism
- E71.43 - Iatrogenic carnitine deficiency
- E71.440 - Ruvalcaba-Myhre-Smith syndrome
- E71.448 - Other secondary carnitine deficiency
- 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
- E72.53 - Primary hyperoxaluria
- 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
- E74.89 - Other specified disorders of carbohydrate metabolism
- E74.9 - Disorder of carbohydrate metabolism, unspecified
- E75.21 - Fabry (-Anderson) disease
- E75.22 - Gaucher disease
- E75.240 - Niemann-Pick disease type A
- E75.241 - Niemann-Pick disease type B
- E75.242 - Niemann-Pick disease type C
- E75.243 - Niemann-Pick disease type D
- E75.244 - Niemann-Pick disease type A/B
- E75.248 - Other Niemann-Pick disease
- E75.249 - Niemann-Pick disease, unspecified
- E75.3 - Sphingolipidosis, unspecified
- E75.5 - Other lipid storage disorders
- E75.6 - Lipid storage disorder, unspecified
- 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
- E77.0 - Defects in post-translational modification of lysosomal enzymes
- E77.1 - Defects in glycoprotein degradation
- E77.8 - Other disorders of glycoprotein metabolism
- E77.9 - Disorder of glycoprotein metabolism, unspecified
- E78.00 - Pure hypercholesterolemia, unspecified
- E78.01 - Familial hypercholesterolemia
- E78.1 - Pure hyperglyceridemia
- E78.2 - Mixed hyperlipidemia
- E78.3 - Hyperchylomicronemia
- E78.41 - Elevated Lipoprotein(a)
- E78.49 - Other hyperlipidemia
- E78.5 - Hyperlipidemia, unspecified
- E78.6 - Lipoprotein deficiency
- E78.70 - Disorder of bile acid and cholesterol metabolism, unspecified
- E78.79 - Other disorders of bile acid and cholesterol metabolism
- E78.81 - Lipoid dermatoarthritis
- E78.89 - Other lipoprotein metabolism disorders
- E78.9 - Disorder of lipoprotein metabolism, unspecified
- E79.1 - Lesch-Nyhan syndrome
- E79.2 - Myoadenylate deaminase deficiency
- E79.81 - Aicardi-Goutières 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
- E83.00 - Disorder of copper metabolism, unspecified
- E83.01 - Wilson's disease
- E83.09 - Other disorders of copper metabolism
- E83.10 - Disorder of iron metabolism, unspecified
- E83.110 - Hereditary hemochromatosis
- E83.111 - Hemochromatosis due to repeated red blood cell transfusions
- E83.118 - Other hemochromatosis
- E83.119 - Hemochromatosis, unspecified
- E83.19 - Other disorders of iron metabolism
- E83.30 - Disorder of phosphorus metabolism, unspecified
- E83.31 - Familial hypophosphatemia
- E83.32 - Hereditary vitamin D-dependent rickets (type 1) (type 2)
- E83.39 - Other disorders of phosphorus metabolism
- E83.89 - Other disorders of mineral metabolism
- E83.9 - Disorder of mineral metabolism, unspecified
- E88.01 - Alpha-1-antitrypsin deficiency
- E88.1 - Lipodystrophy, not elsewhere classified
- E88.2 - Lipomatosis, not elsewhere classified
- 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
- E88.810 - Metabolic syndrome
- E88.811 - Insulin resistance syndrome, Type A
- E88.818 - Other insulin resistance
- E88.819 - Insulin resistance, unspecified
- E88.89 - Other specified metabolic disorders
- E88.9 - Metabolic disorder, unspecified
- E88.A - Wasting disease (syndrome) due to underlying condition
- H49.811 - Kearns-Sayre syndrome, right eye
- H49.812 - Kearns-Sayre syndrome, left eye
- H49.813 - Kearns-Sayre syndrome, bilateral
- H49.819 - Kearns-Sayre syndrome, unspecified eye