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C96.5 Multifocal and unisystemic Langerhans-cell histiocytosis |
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C96.6 Unifocal Langerhans-cell histiocytosis |
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D81.3 Adenosine deaminase ADA deficiency |
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D81.5 Purine nucleoside phosphorylase PNP deficiency |
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D81.810 Biotinidase deficiency |
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D84.1 Defects in the complement system |
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E70.0 Classical phenylketonuria |
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E70.1 Other hyperphenylalaninemias |
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E70.20 Disorder of tyrosine metabolism, unspecified |
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E70.21 Tyrosinemia |
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E70.29 Other disorders of tyrosine metabolism |
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E70.30 Albinism, unspecified |
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E70.310 X-linked ocular albinism |
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E70.311 Autosomal recessive ocular albinism |
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E70.318 Other ocular albinism |
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E70.319 Ocular albinism, unspecified |
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E70.320 Tyrosinase negative oculocutaneous albinism |
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E70.321 Tyrosinase positive oculocutaneous albinism |
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E70.328 Other oculocutaneous albinism |
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E70.329 Oculocutaneous albinism, unspecified |
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E70.330 Chediak-Higashi syndrome |
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E70.331 Hermansky-Pudlak syndrome |
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E70.338 Other albinism with hematologic abnormality |
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E70.339 Albinism with hematologic abnormality, unspecified |
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E70.39 Other specified albinism |
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E70.40 Disorders of histidine metabolism, unspecified |
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E70.41 Histidinemia |
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E70.49 Other disorders of histidine metabolism |
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E70.5 Disorders of tryptophan metabolism |
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E70.8 Other disorders of aromatic amino-acid metabolism |
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E70.9 Disorder of aromatic amino-acid metabolism, unspecified |
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E71.0 Maple-syrup-urine disease |
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E71.110 Isovaleric acidemia |
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E71.111 3-methylglutaconic aciduria |
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E71.118 Other branched-chain organic acidurias |
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E71.120 Methylmalonic acidemia |
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E71.121 Propionic acidemia |
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E71.128 Other disorders of propionate metabolism |
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E71.19 Other disorders of branched-chain amino-acid metabolism |
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E71.2 Disorder of branched-chain amino-acid metabolism, unspecified |
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E71.30 Disorder of fatty-acid metabolism, unspecified |
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E71.310 Long chainvery long chain acyl CoA dehydrogenase deficiency |
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E71.311 Medium chain acyl CoA dehydrogenase deficiency |
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E71.312 Short chain acyl CoA dehydrogenase deficiency |
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E71.313 Glutaric aciduria type II |
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E71.314 Muscle carnitine palmitoyltransferase deficiency |
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E71.318 Other disorders of fatty-acid oxidation |
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E71.32 Disorders of ketone metabolism |
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E71.39 Other disorders of fatty-acid metabolism |
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E71.40 Disorder of carnitine metabolism, unspecified |
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E71.41 Primary carnitine deficiency |
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E71.42 Carnitine deficiency due to inborn errors of metabolism |
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E71.43 Iatrogenic carnitine deficiency |
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E71.440 Ruvalcaba-Myhre-Smith syndrome |
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E71.448 Other secondary carnitine deficiency |
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E71.50 Peroxisomal disorder, unspecified |
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E71.510 Zellweger syndrome |
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E71.511 Neonatal adrenoleukodystrophy |
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E71.518 Other disorders of peroxisome biogenesis |
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E71.520 Childhood cerebral X-linked adrenoleukodystrophy |
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E71.521 Adolescent X-linked adrenoleukodystrophy |
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E71.522 Adrenomyeloneuropathy |
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E71.528 Other X-linked adrenoleukodystrophy |
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E71.529 X-linked adrenoleukodystrophy, unspecified type |
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E71.53 Other group 2 peroxisomal disorders |
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E71.540 Rhizomelic chondrodysplasia punctata |
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E71.541 Zellweger-like syndrome |
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E71.542 Other group 3 peroxisomal disorders |
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E71.548 Other peroxisomal disorders |
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E72.00 Disorders of amino-acid transport, unspecified |
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E72.01 Cystinuria |
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E72.02 Hartnup's disease |
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E72.03 Lowe's syndrome |
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E72.04 Cystinosis |
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E72.09 Other disorders of amino-acid transport |
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E72.10 Disorders of sulfur-bearing amino-acid metabolism, unspecified |
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E72.11 Homocystinuria |
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E72.12 Methylenetetrahydrofolate reductase deficiency |
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E72.19 Other disorders of sulfur-bearing amino-acid metabolism |
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E72.20 Disorder of urea cycle metabolism, unspecified |
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E72.21 Argininemia |
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E72.22 Arginosuccinic aciduria |
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E72.23 Citrullinemia |
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E72.29 Other disorders of urea cycle metabolism |
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E72.3 Disorders of lysine and hydroxylysine metabolism |
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E72.4 Disorders of ornithine metabolism |
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E72.50 Disorder of glycine metabolism, unspecified |
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E72.51 Non-ketotic hyperglycinemia |
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E72.52 Trimethylaminuria |
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E72.53 Hyperoxaluria |
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E72.59 Other disorders of glycine metabolism |
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E72.8 Other specified disorders of amino-acid metabolism |
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E72.9 Disorder of amino-acid metabolism, unspecified |
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E74.00 Glycogen storage disease, unspecified |
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E74.01 von Gierke disease |
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E74.02 Pompe disease |
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E74.03 Cori disease |
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E74.04 McArdle disease |
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E74.09 Other glycogen storage disease |
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E74.20 Disorders of galactose metabolism, unspecified |
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E74.21 Galactosemia |
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E74.29 Other disorders of galactose metabolism |
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E74.4 Disorders of pyruvate metabolism and gluconeogenesis |
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E74.8 Other specified disorders of carbohydrate metabolism |
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|
E74.9 Disorder of carbohydrate metabolism, unspecified |
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E75.21 Fabry (-Anderson) disease |
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E75.22 Gaucher disease |
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E75.240 Niemann-Pick disease type A |
|
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E75.241 Niemann-Pick disease type B |
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E75.242 Niemann-Pick disease type C |
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E75.243 Niemann-Pick disease type D |
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E75.248 Other Niemann-Pick disease |
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E75.249 Niemann-Pick disease, unspecified |
|
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E75.3 Sphingolipidosis, unspecified |
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|
E75.5 Other lipid storage disorders |
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E75.6 Lipid storage disorder, unspecified |
|
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E76.01 Hurler's syndrome |
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E76.02 Hurler-Scheie syndrome |
|
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E76.03 Scheie's syndrome |
|
|
E76.1 Mucopolysaccharidosis, type II |
|
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E76.210 Morquio A mucopolysaccharidoses |
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E76.211 Morquio B mucopolysaccharidoses |
|
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E76.219 Morquio mucopolysaccharidoses, unspecified |
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|
E76.22 Sanfilippo mucopolysaccharidoses |
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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 |
|
|
E78.4 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 |
|
|
E79.8 Other 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 |
|
|
E88.49 Other mitochondrial metabolism disorders |
|
|
E88.81 Metabolic syndrome |
|
|
E88.89 Other specified metabolic disorders |
|
|
E88.9 Metabolic disorder, unspecified |
|
|
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 |
|
