| PDX Collection 0576 (continued) |
| 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 |
| E78010 | Homozygous familial hypercholesterolemia [HoFH] |
| E78011 | Heterozygous familial hypercholesterolemia [HeFH] |
| E78019 | Familial hypercholesterolemia, unspecified |
| 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 |
| E8810 | Lipodystrophy, unspecified |
| E8811 | Partial lipodystrophy |
| E8812 | Generalized lipodystrophy |
| E8813 | Localized lipodystrophy |
| E8814 | HIV-associated lipodystrophy |
| E8819 | Other lipodystrophy, not elsewhere classified |
| E882 | Lipomatosis, not elsewhere classified |
| E8882 | Obesity due to disruption of MC4R pathway |
| E8889 | Other specified metabolic disorders |
| |
| PDX Collection 0577 |
| E7081 | Aromatic L-amino acid decarboxylase deficiency |
| E7089 | Other disorders of aromatic amino-acid metabolism |
| E7250 | Disorder of glycine metabolism, unspecified |
| E7251 | Non-ketotic hyperglycinemia |
| E7252 | Trimethylaminuria |
| E72530 | Primary hyperoxaluria, type 1 |
| E72538 | Other specified primary hyperoxaluria |
| E72539 | Primary hyperoxaluria, unspecified |
| 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 |
| |
| PDX Collection 0578 |
| E7500 | GM2 gangliosidosis, unspecified |
| E7501 | Sandhoff disease |
| E7502 | Tay-Sachs disease |
| E7509 | Other GM2 gangliosidosis |
| E7510 | Unspecified gangliosidosis |
| E7511 | Mucolipidosis IV |
| E7519 | Other gangliosidosis |
| E754 | Neuronal ceroid lipofuscinosis |
| F842 | Rett's syndrome |
| G300 | Alzheimer's disease with early onset |
| G301 | Alzheimer's disease with late onset |
| G308 | Other Alzheimer's disease |
| G309 | Alzheimer's disease, unspecified |
| G3101 | Pick's disease |
| G3109 | Other frontotemporal neurocognitive disorder |
| G311 | Senile degeneration of brain, not elsewhere classified |
| G312 | Degeneration of nervous system due to alcohol |
| G3180 | Leukodystrophy, unspecified |
| G3181 | Alpers disease |
| G3182 | Leigh's disease |
| G3184 | Mild cognitive impairment of uncertain or unknown etiology |
| G3185 | Corticobasal degeneration |
| G3186 | Alexander disease |
| G3187 | Primary progressive apraxia of speech |
| G3189 | Other specified degenerative diseases of nervous system |
| G319 | Degenerative disease of nervous system, unspecified |
| |
| PDX Collection 0579 |
| E7500 | GM2 gangliosidosis, unspecified |
| E7501 | Sandhoff disease |
| E7502 | Tay-Sachs disease |
| E7509 | Other GM2 gangliosidosis |
| E7510 | Unspecified gangliosidosis |
| E7511 | Mucolipidosis IV |
| E7519 | Other gangliosidosis |
| E7523 | Krabbe disease |
| E7525 | Metachromatic leukodystrophy |
| E7526 | Sulfatase deficiency |
| E7527 | Pelizaeus-Merzbacher disease |
| E7528 | Canavan disease |
| E7529 | Other sphingolipidosis |
| E754 | Neuronal ceroid lipofuscinosis |
| F842 | Rett's syndrome |
| G312 | Degeneration of nervous system due to alcohol |
| G3181 | Alpers disease |
| G3182 | Leigh's disease |
| G9381 | Temporal sclerosis |
| G9389 | Other specified disorders of brain |
| G939 | Disorder of brain, unspecified |
| G969 | Disorder of central nervous system, unspecified |
| G980 | Neurogenic arthritis, not elsewhere classified |
| G988 | Other disorders of nervous system |
| |
| PDX Collection 0580 |
| D8130 | Adenosine deaminase deficiency, unspecified |
| D8131 | Severe combined immunodeficiency due to adenosine deaminase deficiency |
| D8132 | Adenosine deaminase 2 deficiency |
| D8139 | Other adenosine deaminase deficiency |
| D815 | Purine nucleoside phosphorylase [PNP] deficiency |
| D81810 | Biotinidase deficiency |
| D841 | Defects in the complement system |
| E7601 | Hurler's syndrome |
| E7602 | Hurler-Scheie syndrome |
| E7603 | Scheie's syndrome |
| E761 | Mucopolysaccharidosis, type II |
| E76210 | Morquio A mucopolysaccharidoses |
| E76211 | Morquio B mucopolysaccharidoses |
| E76219 | Morquio mucopolysaccharidoses, unspecified |
| E7622 | Sanfilippo mucopolysaccharidoses |
| E7629 | Other mucopolysaccharidoses |
| E763 | Mucopolysaccharidosis, unspecified |
| E768 | Other disorders of glucosaminoglycan metabolism |
| E769 | Glucosaminoglycan metabolism disorder, unspecified |
| E791 | Lesch-Nyhan syndrome |
| E792 | Myoadenylate deaminase deficiency |
| E7981 | Aicardi-Goutieres syndrome |
| E7982 | Hereditary xanthinuria |
| E7989 | Other specified disorders of purine and pyrimidine metabolism |
| E799 | Disorder of purine and pyrimidine metabolism, unspecified |
| E800 | Hereditary erythropoietic porphyria |
| E801 | Porphyria cutanea tarda |
| E8020 | Unspecified porphyria |
| E8021 | Acute intermittent (hepatic) porphyria |
| E8029 | Other porphyria |
| E804 | Gilbert syndrome |
| E805 | Crigler-Najjar syndrome |
| E806 | Other disorders of bilirubin metabolism |
| E807 | Disorder of bilirubin metabolism, unspecified |
| E850 | Non-neuropathic heredofamilial amyloidosis |
| E859 | Amyloidosis, unspecified |
| E88810 | Metabolic syndrome |
| |
| PDX Collection 0581 |
| E7871 | Barth syndrome |
| E7872 | Smith-Lemli-Opitz syndrome |
| Q8711 | Prader-Willi syndrome |
| Q8719 | Other congenital malformation syndromes predominantly associated with short stature |
| Q872 | Congenital malformation syndromes predominantly involving limbs |
| Q873 | Congenital malformation syndromes involving early overgrowth |
| Q8740 | Marfan syndrome, unspecified |
| Q87410 | Marfan syndrome with aortic dilation |
| Q87418 | Marfan syndrome with other cardiovascular manifestations |
| Q8742 | Marfan syndrome with ocular manifestations |
| Q8743 | Marfan syndrome with skeletal manifestation |
| Q875 | Other congenital malformation syndromes with other skeletal changes |
| Q8781 | Alport syndrome |
| Q8782 | Arterial tortuosity syndrome |
| Q8783 | Bardet-Biedl syndrome |
| Q8784 | Laurence-Moon syndrome |
| Q8785 | MED13L syndrome |
| Q8786 | Kleefstra syndrome |
| Q8787 | Hao-Fountain Syndrome |
| Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q8981 | Kabuki syndrome |
| Q8989 | Other specified congenital malformations |
| Q992 | Fragile X chromosome |
| Q99811 | Usher syndrome, type 1 |
| Q99812 | Usher syndrome, type 2 |
| Q99813 | Usher syndrome, type 3 |
| Q99818 | Other Usher syndrome |
| Q99819 | Usher syndrome, unspecified |
| QA00101 | SCN2A-related neurodevelopmental disorder |
| QA00102 | CACNA1A-related neurodevelopmental disorder |
| QA00109 | Neurodevelopmental disorder related to pathogenic variant in other ion channel gene |
| QA0011 | Neurodevelopmental disorders, related to pathogenic variants in glutamate receptor genes |
| QA0012 | Neurodevelopmental disorders, related to pathogenic variants in other receptor genes |
| QA00131 | SLC6A1-related disorder |
| QA00139 | Neurodevelopmental disorder, related to pathogenic variant in other transporter or solute carrier gene |
| QA00141 | Syntaxin-binding protein 1-related disorder |
| QA00142 | DLG4-related synaptopathy |
| QA00149 | Neurodevelopmental disorder, related to pathogenic variant in other synapse related gene |
| QA00151 | FOXG1 syndrome |
| QA00159 | Neurodevelopmental disorder, related to other genes associated with transcription and gene expression |
| QA08 | Other neurodevelopmental disorders related to pathogenic variants in other specific genes |
| |
| PDX Collection 0582 |
| 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 |
| 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 |
| E804 | Gilbert syndrome |
| E805 | Crigler-Najjar syndrome |
| E806 | Other disorders of bilirubin metabolism |
| E807 | Disorder of bilirubin metabolism, unspecified |
| E8840 | Mitochondrial metabolism disorder, unspecified |
| E8841 | MELAS syndrome |
| E8842 | MERRF syndrome |
| E8843 | Disorders of mitochondrial tRNA synthetases |
| E8849 | Other mitochondrial metabolism 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 0583 |
| E83820 | Generalized arterial calcification of infancy with unspecified genetic causality |
| E83821 | ENPP1 deficiency causing generalized arterial calcification of infancy |
| E83823 | ABCC6 deficiency causing generalized arterial calcification of infancy |
| E83825 | CD73 deficiency causing arterial calcification |
| |
| PDX Collection 0584 |
| E840 | Cystic fibrosis with pulmonary manifestations |
| E8411 | Meconium ileus in cystic fibrosis |
| E8419 | Cystic fibrosis with other intestinal manifestations |
| E848 | Cystic fibrosis with other manifestations |
| E849 | Cystic fibrosis, unspecified |
| |
| PDX Collection 0585 |
| E850 | Non-neuropathic heredofamilial amyloidosis |
| E851 | Neuropathic heredofamilial amyloidosis |
| E852 | Heredofamilial amyloidosis, unspecified |
| E853 | Secondary systemic amyloidosis |
| E854 | Organ-limited amyloidosis |
| E8581 | Light chain (AL) amyloidosis |
| E8582 | Wild-type transthyretin-related (ATTR) amyloidosis |
| E8589 | Other amyloidosis |
| E859 | Amyloidosis, unspecified |
| E88810 | Metabolic syndrome |
| |
| PDX Collection 0586 |
| E860 | Dehydration |
| E861 | Hypovolemia |
| E869 | Volume depletion, unspecified |
| E870 | Hyperosmolality and hypernatremia |
| E871 | Hypo-osmolality and hyponatremia |
| E8720 | Acidosis, unspecified |
| E8721 | Acute metabolic acidosis |
| E8722 | Chronic metabolic acidosis |
| E8729 | Other acidosis |
| E873 | Alkalosis |
| E874 | Mixed disorder of acid-base balance |
| E875 | Hyperkalemia |
| E876 | Hypokalemia |
| E8770 | Fluid overload, unspecified |
| E8771 | Transfusion associated circulatory overload |
| E8779 | Other fluid overload |
| E878 | Other disorders of electrolyte and fluid balance, not elsewhere classified |
| |
| PDX Collection 0587 |
| C8800 | Waldenstrom macroglobulinemia not having achieved remission |
| C8801 | Waldenstrom macroglobulinemia, in remission |
| D472 | Monoclonal gammopathy |
| D890 | Polyclonal hypergammaglobulinemia |
| D891 | Cryoglobulinemia |
| E700 | Classical phenylketonuria |
| E701 | Other hyperphenylalaninemias |
| E7020 | Disorder of tyrosine metabolism, unspecified |
| E7021 | Tyrosinemia |
| E7029 | Other disorders of tyrosine metabolism |
| E7030 | Albinism, unspecified |
| E70310 | X-linked ocular albinism |
| E70311 | Autosomal recessive ocular albinism |
| E70318 | Other ocular albinism |
| E70319 | Ocular albinism, unspecified |
| E70320 | Tyrosinase negative oculocutaneous albinism |
| E70321 | Tyrosinase positive oculocutaneous albinism |
| E70328 | Other oculocutaneous albinism |
| E70329 | Oculocutaneous albinism, unspecified |
| E70330 | Chediak-Higashi syndrome |
| E70331 | Hermansky-Pudlak syndrome |
| E70338 | Other albinism with hematologic abnormality |
| E70339 | Albinism with hematologic abnormality, unspecified |
| E7039 | Other specified albinism |
| E7040 | Disorders of histidine metabolism, unspecified |
| E7041 | Histidinemia |
| E7049 | Other disorders of histidine metabolism |
| E705 | Disorders of tryptophan metabolism |
| E7081 | Aromatic L-amino acid decarboxylase deficiency |
| E7089 | Other disorders of aromatic amino-acid metabolism |
| E709 | Disorder of aromatic amino-acid metabolism, unspecified |
| E710 | Maple-syrup-urine disease |
| E71110 | Isovaleric acidemia |
| E71111 | 3-methylglutaconic aciduria |
| E71118 | Other branched-chain organic acidurias |
| 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 |
| E7200 | Disorders of amino-acid transport, unspecified |
| E7201 | Cystinuria |
| E7202 | Hartnup's disease |
| 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 |
| E72530 | Primary hyperoxaluria, type 1 |
| E72538 | Other specified primary hyperoxaluria |
| E72539 | Primary hyperoxaluria, unspecified |
| 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 |
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