| PDX Collection 0534 (continued) |
| 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 |
| E708 | 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 |
| 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 |
| E748 | 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 |
| E8889 | Other specified metabolic disorders |
| |
| PDX Collection 0535 |
| C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
| C966 | Unifocal Langerhans-cell histiocytosis |
| 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 |
| E8849 | Other mitochondrial metabolism disorders |
| 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 0536 |
| C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
| C966 | Unifocal Langerhans-cell histiocytosis |
| 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 |
| 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 |
| E8849 | Other mitochondrial metabolism disorders |
| 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 0537 |
| 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 |
| G132 | Systemic atrophy primarily affecting the central nervous system in myxedema |
| G138 | Systemic atrophy primarily affecting central nervous system in other diseases classified elsewhere |
| 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 dementia |
| G311 | Senile degeneration of brain, not elsewhere classified |
| G312 | Degeneration of nervous system due to alcohol |
| G3181 | Alpers disease |
| G3182 | Leigh's disease |
| G3184 | Mild cognitive impairment, so stated |
| G3185 | Corticobasal degeneration |
| G3189 | Other specified degenerative diseases of nervous system |
| G319 | Degenerative disease of nervous system, unspecified |
| G914 | Hydrocephalus in diseases classified elsewhere |
| G94 | Other disorders of brain in diseases classified elsewhere |
| |
| PDX Collection 0538 |
| 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 |
| E7529 | Other sphingolipidosis |
| E754 | Neuronal ceroid lipofuscinosis |
| F842 | Rett's syndrome |
| G132 | Systemic atrophy primarily affecting the central nervous system in myxedema |
| G138 | Systemic atrophy primarily affecting central nervous system in other diseases classified elsewhere |
| G312 | Degeneration of nervous system due to alcohol |
| G3181 | Alpers disease |
| G3182 | Leigh's disease |
| G3289 | Other specified degenerative disorders of nervous system in diseases classified elsewhere |
| G914 | Hydrocephalus in diseases classified elsewhere |
| G9381 | Temporal sclerosis |
| G9389 | Other specified disorders of brain |
| G939 | Disorder of brain, unspecified |
| G94 | Other disorders of brain in diseases classified elsewhere |
| G968 | Other specified disorders of central nervous system |
| G969 | Disorder of central nervous system, unspecified |
| G980 | Neurogenic arthritis, not elsewhere classified |
| G988 | Other disorders of nervous system |
| G998 | Other specified disorders of nervous system in diseases classified elsewhere |
| |
| PDX Collection 0539 |
| D813 | Adenosine deaminase [ADA] 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 |
| E798 | Other 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 |
| E8881 | Metabolic syndrome |
| |
| PDX Collection 0540 |
| E7871 | Barth syndrome |
| E7872 | Smith-Lemli-Opitz syndrome |
| Q871 | Congenital malformation syndromes predominantly associated with short stature |
| Q872 | Congenital malformation syndromes predominantly involving limbs |
| Q873 | Congenital malformation syndromes involving early overgrowth |
| Q8740 | Marfan's syndrome, unspecified |
| Q87410 | Marfan's syndrome with aortic dilation |
| Q87418 | Marfan's syndrome with other cardiovascular manifestations |
| Q8742 | Marfan's syndrome with ocular manifestations |
| Q8743 | Marfan's syndrome with skeletal manifestation |
| Q875 | Other congenital malformation syndromes with other skeletal changes |
| Q8781 | Alport syndrome |
| Q8782 | Arterial tortuosity syndrome |
| Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q898 | Other specified congenital malformations |
| Q992 | Fragile X chromosome |
| |
| PDX Collection 0541 |
| 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 0542 |
| 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 |
| E8881 | Metabolic syndrome |
| |
| PDX Collection 0543 |
| E860 | Dehydration |
| E861 | Hypovolemia |
| E869 | Volume depletion, unspecified |
| E870 | Hyperosmolality and hypernatremia |
| E871 | Hypo-osmolality and hyponatremia |
| E872 | 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 0544 |
| E0821 | Diabetes mellitus due to underlying condition with diabetic nephropathy |
| E0822 | Diabetes mellitus due to underlying condition with diabetic chronic kidney disease |
| E0829 | Diabetes mellitus due to underlying condition with other diabetic kidney complication |
| E0921 | Drug or chemical induced diabetes mellitus with diabetic nephropathy |
| E0922 | Drug or chemical induced diabetes mellitus with diabetic chronic kidney disease |
| E0929 | Drug or chemical induced diabetes mellitus with other diabetic kidney complication |
| E883 | Tumor lysis syndrome |
| N000 | Acute nephritic syndrome with minor glomerular abnormality |
| N001 | Acute nephritic syndrome with focal and segmental glomerular lesions |
| N002 | Acute nephritic syndrome with diffuse membranous glomerulonephritis |
| N003 | Acute nephritic syndrome with diffuse mesangial proliferative glomerulonephritis |
| N004 | Acute nephritic syndrome with diffuse endocapillary proliferative glomerulonephritis |
| N005 | Acute nephritic syndrome with diffuse mesangiocapillary glomerulonephritis |
| N006 | Acute nephritic syndrome with dense deposit disease |
| N007 | Acute nephritic syndrome with diffuse crescentic glomerulonephritis |
| N008 | Acute nephritic syndrome with other morphologic changes |
| N009 | Acute nephritic syndrome with unspecified morphologic changes |
| N010 | Rapidly progressive nephritic syndrome with minor glomerular abnormality |
| N011 | Rapidly progressive nephritic syndrome with focal and segmental glomerular lesions |
| N012 | Rapidly progressive nephritic syndrome with diffuse membranous glomerulonephritis |
| N013 | Rapidly progressive nephritic syndrome with diffuse mesangial proliferative glomerulonephritis |
| N014 | Rapidly progressive nephritic syndrome with diffuse endocapillary proliferative glomerulonephritis |
| N015 | Rapidly progressive nephritic syndrome with diffuse mesangiocapillary glomerulonephritis |
| N016 | Rapidly progressive nephritic syndrome with dense deposit disease |
| N017 | Rapidly progressive nephritic syndrome with diffuse crescentic glomerulonephritis |
| N018 | Rapidly progressive nephritic syndrome with other morphologic changes |
| N019 | Rapidly progressive nephritic syndrome with unspecified morphologic changes |
| N028 | Recurrent and persistent hematuria with other morphologic changes |
| N029 | Recurrent and persistent hematuria with unspecified morphologic changes |
| N047 | Nephrotic syndrome with diffuse crescentic glomerulonephritis |
| N048 | Nephrotic syndrome with other morphologic changes |
| N049 | Nephrotic syndrome with unspecified morphologic changes |
| N050 | Unspecified nephritic syndrome with minor glomerular abnormality |
| N051 | Unspecified nephritic syndrome with focal and segmental glomerular lesions |
| N056 | Unspecified nephritic syndrome with dense deposit disease |
| N057 | Unspecified nephritic syndrome with diffuse crescentic glomerulonephritis |
| N058 | Unspecified nephritic syndrome with other morphologic changes |
| N059 | Unspecified nephritic syndrome with unspecified morphologic changes |
| N060 | Isolated proteinuria with minor glomerular abnormality |
| N061 | Isolated proteinuria with focal and segmental glomerular lesions |
| N066 | Isolated proteinuria with dense deposit disease |
| N067 | Isolated proteinuria with diffuse crescentic glomerulonephritis |
| N068 | Isolated proteinuria with other morphologic lesion |
| N069 | Isolated proteinuria with unspecified morphologic lesion |
| N070 | Hereditary nephropathy, not elsewhere classified with minor glomerular abnormality |
| N071 | Hereditary nephropathy, not elsewhere classified with focal and segmental glomerular lesions |
| N076 | Hereditary nephropathy, not elsewhere classified with dense deposit disease |
| N077 | Hereditary nephropathy, not elsewhere classified with diffuse crescentic glomerulonephritis |
| N078 | Hereditary nephropathy, not elsewhere classified with other morphologic lesions |
| N079 | Hereditary nephropathy, not elsewhere classified with unspecified morphologic lesions |
| N08 | Glomerular disorders in diseases classified elsewhere |
| N140 | Analgesic nephropathy |
| N141 | Nephropathy induced by other drugs, medicaments and biological substances |
| N142 | Nephropathy induced by unspecified drug, medicament or biological substance |
| N143 | Nephropathy induced by heavy metals |
| N144 | Toxic nephropathy, not elsewhere classified |
| N150 | Balkan nephropathy |
| N158 | Other specified renal tubulo-interstitial diseases |
| N159 | Renal tubulo-interstitial disease, unspecified |
| N16 | Renal tubulo-interstitial disorders in diseases classified elsewhere |
| N170 | Acute kidney failure with tubular necrosis |
| N171 | Acute kidney failure with acute cortical necrosis |
| N172 | Acute kidney failure with medullary necrosis |
| N178 | Other acute kidney failure |
| N179 | Acute kidney failure, unspecified |
| |
| PDX Collection 0545 |
| C965 | Multifocal and unisystemic Langerhans-cell histiocytosis |
| C966 | Unifocal Langerhans-cell histiocytosis |
| 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 |
| 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 |
| E8889 | Other specified metabolic disorders |
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