PDX Collection 0550 (continued) |
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 |
E7405 | Lysosome-associated membrane protein 2 [LAMP2] deficiency |
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 |
E74820 | SLC13A5 Citrate Transporter Disorder |
E74829 | Other disorders of citrate metabolism |
E7489 | 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 |
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 |
E7800 | Pure hypercholesterolemia, unspecified |
E7801 | Familial hypercholesterolemia |
E781 | Pure hyperglyceridemia |
E782 | Mixed hyperlipidemia |
E783 | Hyperchylomicronemia |
E7841 | Elevated Lipoprotein(a) |
E7849 | 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 |
E8802 | Plasminogen deficiency |
E8809 | Other disorders of plasma-protein metabolism, not elsewhere classified |
E881 | Lipodystrophy, not elsewhere classified |
E882 | Lipomatosis, not elsewhere classified |
E88811 | Insulin resistance syndrome, Type A |
E88818 | Other insulin resistance |
E88819 | Insulin resistance, unspecified |
E8882 | Obesity due to disruption of MC4R pathway |
E8889 | Other specified metabolic disorders |
|
PDX Collection 0551 |
E7081 | Aromatic L-amino acid decarboxylase deficiency |
E7089 | Other disorders of aromatic amino-acid metabolism |
E74810 | Glucose transporter protein type 1 deficiency |
E74818 | Other disorders of glucose transport |
E74819 | Disorders of glucose transport, unspecified |
E74820 | SLC13A5 Citrate Transporter Disorder |
E74829 | Other disorders of citrate metabolism |
E7489 | Other specified disorders of carbohydrate metabolism |
|
PDX Collection 0552 |
C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
C966 | Unifocal Langerhans-cell histiocytosis |
E71310 | Long chain/very long chain acyl CoA dehydrogenase deficiency |
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 |
E803 | Defects of catalase and peroxidase |
E8840 | Mitochondrial metabolism disorder, unspecified |
E8841 | MELAS syndrome |
E8842 | MERRF syndrome |
E8843 | Disorders of mitochondrial tRNA synthetases |
E8849 | Other mitochondrial metabolism disorders |
E88811 | Insulin resistance syndrome, Type A |
E88818 | Other insulin resistance |
E88819 | Insulin resistance, unspecified |
E8882 | Obesity due to disruption of MC4R pathway |
E8889 | Other specified metabolic disorders |
H49811 | Kearns-Sayre syndrome, right eye |
H49812 | Kearns-Sayre syndrome, left eye |
H49813 | Kearns-Sayre syndrome, bilateral |
H49819 | Kearns-Sayre syndrome, unspecified eye |
|
PDX Collection 0553 |
C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
C966 | Unifocal Langerhans-cell histiocytosis |
E71311 | Medium chain acyl CoA dehydrogenase deficiency |
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 |
E803 | Defects of catalase and peroxidase |
E8840 | Mitochondrial metabolism disorder, unspecified |
E8841 | MELAS syndrome |
E8842 | MERRF syndrome |
E8843 | Disorders of mitochondrial tRNA synthetases |
E8849 | Other mitochondrial metabolism disorders |
E88811 | Insulin resistance syndrome, Type A |
E88818 | Other insulin resistance |
E88819 | Insulin resistance, unspecified |
E8882 | Obesity due to disruption of MC4R pathway |
E8889 | Other specified metabolic disorders |
H49811 | Kearns-Sayre syndrome, right eye |
H49812 | Kearns-Sayre syndrome, left eye |
H49813 | Kearns-Sayre syndrome, bilateral |
H49819 | Kearns-Sayre syndrome, unspecified eye |
|
PDX Collection 0554 |
C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
C966 | Unifocal Langerhans-cell histiocytosis |
E71312 | Short chain acyl CoA dehydrogenase deficiency |
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 |
E803 | Defects of catalase and peroxidase |
E8840 | Mitochondrial metabolism disorder, unspecified |
E8841 | MELAS syndrome |
E8842 | MERRF syndrome |
E8843 | Disorders of mitochondrial tRNA synthetases |
E8849 | Other mitochondrial metabolism disorders |
E88811 | Insulin resistance syndrome, Type A |
E88818 | Other insulin resistance |
E88819 | Insulin resistance, unspecified |
E8882 | Obesity due to disruption of MC4R pathway |
E8889 | Other specified metabolic disorders |
H49811 | Kearns-Sayre syndrome, right eye |
H49812 | Kearns-Sayre syndrome, left eye |
H49813 | Kearns-Sayre syndrome, bilateral |
H49819 | Kearns-Sayre syndrome, unspecified eye |
|
PDX Collection 0555 |
C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
C966 | Unifocal Langerhans-cell histiocytosis |
E71313 | Glutaric aciduria type II |
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 |
E803 | Defects of catalase and peroxidase |
E8840 | Mitochondrial metabolism disorder, unspecified |
E8841 | MELAS syndrome |
E8842 | MERRF syndrome |
E8843 | Disorders of mitochondrial tRNA synthetases |
E8849 | Other mitochondrial metabolism disorders |
E88811 | Insulin resistance syndrome, Type A |
E88818 | Other insulin resistance |
E88819 | Insulin resistance, unspecified |
E8882 | Obesity due to disruption of MC4R pathway |
E8889 | Other specified metabolic disorders |
H49811 | Kearns-Sayre syndrome, right eye |
H49812 | Kearns-Sayre syndrome, left eye |
H49813 | Kearns-Sayre syndrome, bilateral |
H49819 | Kearns-Sayre syndrome, unspecified eye |
|
PDX Collection 0556 |
C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
C966 | Unifocal Langerhans-cell histiocytosis |
E71314 | Muscle carnitine palmitoyltransferase deficiency |
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 |
E803 | Defects of catalase and peroxidase |
E8840 | Mitochondrial metabolism disorder, unspecified |
E8841 | MELAS syndrome |
E8842 | MERRF syndrome |
E8843 | Disorders of mitochondrial tRNA synthetases |
E8849 | Other mitochondrial metabolism disorders |
E88811 | Insulin resistance syndrome, Type A |
E88818 | Other insulin resistance |
E88819 | Insulin resistance, unspecified |
E8882 | Obesity due to disruption of MC4R pathway |
E8889 | Other specified metabolic disorders |
H49811 | Kearns-Sayre syndrome, right eye |
H49812 | Kearns-Sayre syndrome, left eye |
H49813 | Kearns-Sayre syndrome, bilateral |
H49819 | Kearns-Sayre syndrome, unspecified eye |
|
PDX Collection 0557 |
C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
C966 | Unifocal Langerhans-cell histiocytosis |
E71318 | Other disorders of fatty-acid oxidation |
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 |
E803 | Defects of catalase and peroxidase |
E8840 | Mitochondrial metabolism disorder, unspecified |
E8841 | MELAS syndrome |
E8842 | MERRF syndrome |
E8843 | Disorders of mitochondrial tRNA synthetases |
E8849 | Other mitochondrial metabolism disorders |
E88811 | Insulin resistance syndrome, Type A |
E88818 | Other insulin resistance |
E88819 | Insulin resistance, unspecified |
E8882 | Obesity due to disruption of MC4R pathway |
E8889 | Other specified metabolic disorders |
H49811 | Kearns-Sayre syndrome, right eye |
H49812 | Kearns-Sayre syndrome, left eye |
H49813 | Kearns-Sayre syndrome, bilateral |
H49819 | Kearns-Sayre syndrome, unspecified eye |
|
PDX Collection 0558 |
C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
C966 | Unifocal Langerhans-cell histiocytosis |
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 |
E803 | Defects of catalase and peroxidase |
E8840 | Mitochondrial metabolism disorder, unspecified |
E8841 | MELAS syndrome |
E8842 | MERRF syndrome |
E8843 | Disorders of mitochondrial tRNA synthetases |
E8849 | Other mitochondrial metabolism disorders |
E88811 | Insulin resistance syndrome, Type A |
E88818 | Other insulin resistance |
E88819 | Insulin resistance, unspecified |
E8882 | Obesity due to disruption of MC4R pathway |
E8889 | Other specified metabolic disorders |
H49811 | Kearns-Sayre syndrome, right eye |
H49812 | Kearns-Sayre syndrome, left eye |
H49813 | Kearns-Sayre syndrome, bilateral |
H49819 | Kearns-Sayre syndrome, unspecified eye |
|
PDX Collection 0559 |
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 |
E804 | Gilbert syndrome |
E805 | Crigler-Najjar syndrome |
E806 | Other disorders of bilirubin metabolism |
E807 | Disorder of bilirubin metabolism, unspecified |