Code
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| Description
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228
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|---|---|
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 | Primary hyperoxaluria |
E7259 | Other disorders of glycine metabolism |
E7281 | Disorders of gamma aminobutyric acid metabolism |
E7289 | Other specified disorders of amino-acid metabolism |
E729 | Disorder of amino-acid metabolism, unspecified |
E730 | Congenital lactase deficiency |
E731 | Secondary lactase deficiency |
E738 | Other lactose intolerance |
E739 | Lactose intolerance, unspecified |
E7400 | Glycogen storage disease, unspecified |
E7401 | von Gierke disease |
E7402 | Pompe disease |
E7403 | Cori disease |
E7404 | McArdle disease |
E7409 | Other glycogen storage disease |
E7410 | Disorder of fructose metabolism, unspecified |
E7411 | Essential fructosuria |
E7412 | Hereditary fructose intolerance |
E7419 | Other disorders of fructose metabolism |
E7420 | Disorders of galactose metabolism, unspecified |
E7421 | Galactosemia |
E7429 | Other disorders of galactose metabolism |
E7431 | Sucrase-isomaltase deficiency |
E7439 | Other disorders of intestinal carbohydrate absorption |
E744 | Disorders of pyruvate metabolism and gluconeogenesis |
E74810 | Glucose transporter protein type 1 deficiency |
E74818 | Other disorders of glucose transport |
E74819 | Disorders of glucose transport, unspecified |
E7489 | Other specified disorders of carbohydrate metabolism |
E749 | Disorder of carbohydrate metabolism, unspecified |
E7500 | GM2 gangliosidosis, unspecified |
E7501 | Sandhoff disease |
E7502 | Tay-Sachs disease |
E7509 | Other GM2 gangliosidosis |
E7510 | Unspecified gangliosidosis |
E7511 | Mucolipidosis IV |
E7519 | Other gangliosidosis |
E7521 | Fabry (-Anderson) disease |
E7522 | Gaucher disease |
E7523 | Krabbe 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 |
E75244 | Niemann-Pick disease type A/B |
E75248 | Other Niemann-Pick disease |
Subsets and Splits