| PDX Collection 6527 (continued) |
| 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 |
| Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q898 | Other specified congenital malformations |
| Q992 | Fragile X chromosome |
| |
| PDX Collection 6528 |
| C880 | Waldenstrom macroglobulinemia |
| 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 |
| 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 |
| 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 |
| E8889 | Other specified metabolic disorders |
| |
| PDX Collection 6529 |
| M800AXA | Age-related osteoporosis with current pathological fracture, other site, initial encounter for fracture |
| M800AXK | Age-related osteoporosis with current pathological fracture, other site, subsequent encounter for fracture with nonunion |
| M800AXP | Age-related osteoporosis with current pathological fracture, other site, subsequent encounter for fracture with malunion |
| M808AXA | Other osteoporosis with current pathological fracture, other site, initial encounter for fracture |
| M808AXK | Other osteoporosis with current pathological fracture, other site, subsequent encounter for fracture with nonunion |
| M808AXP | Other osteoporosis with current pathological fracture, other site, subsequent encounter for fracture with malunion |
| M808B1K | Other osteoporosis with current pathological fracture, right pelvis, subsequent encounter for fracture with nonunion |
| |
| PDX Collection 6530 |
| K903 | Pancreatic steatorrhea |
| K9041 | Non-celiac gluten sensitivity |
| K9049 | Malabsorption due to intolerance, not elsewhere classified |
| K90821 | Short bowel syndrome with colon in continuity |
| K90822 | Short bowel syndrome without colon in continuity |
| K90829 | Short bowel syndrome, unspecified |
| K9083 | Intestinal failure |
| K9089 | Other intestinal malabsorption |
| K909 | Intestinal malabsorption, unspecified |
| K912 | Postsurgical malabsorption, not elsewhere classified |
| |
| PDX Collection 6531 |
| M4840XA | Fatigue fracture of vertebra, site unspecified, initial encounter for fracture |
| M4841XA | Fatigue fracture of vertebra, occipito-atlanto-axial region, initial encounter for fracture |
| M4842XA | Fatigue fracture of vertebra, cervical region, initial encounter for fracture |
| M4843XA | Fatigue fracture of vertebra, cervicothoracic region, initial encounter for fracture |
| M4844XA | Fatigue fracture of vertebra, thoracic region, initial encounter for fracture |
| M4845XA | Fatigue fracture of vertebra, thoracolumbar region, initial encounter for fracture |
| M4846XA | Fatigue fracture of vertebra, lumbar region, initial encounter for fracture |
| M4847XA | Fatigue fracture of vertebra, lumbosacral region, initial encounter for fracture |
| M4848XA | Fatigue fracture of vertebra, sacral and sacrococcygeal region, initial encounter for fracture |
| M4850XA | Collapsed vertebra, not elsewhere classified, site unspecified, initial encounter for fracture |
| M4851XA | Collapsed vertebra, not elsewhere classified, occipito-atlanto-axial region, initial encounter for fracture |
| M4852XA | Collapsed vertebra, not elsewhere classified, cervical region, initial encounter for fracture |
| M4853XA | Collapsed vertebra, not elsewhere classified, cervicothoracic region, initial encounter for fracture |
| M4854XA | Collapsed vertebra, not elsewhere classified, thoracic region, initial encounter for fracture |
| M4855XA | Collapsed vertebra, not elsewhere classified, thoracolumbar region, initial encounter for fracture |
| M4856XA | Collapsed vertebra, not elsewhere classified, lumbar region, initial encounter for fracture |
| M4857XA | Collapsed vertebra, not elsewhere classified, lumbosacral region, initial encounter for fracture |
| M4858XA | Collapsed vertebra, not elsewhere classified, sacral and sacrococcygeal region, initial encounter for fracture |
| M8000XA | Age-related osteoporosis with current pathological fracture, unspecified site, initial encounter for fracture |
| M80011A | Age-related osteoporosis with current pathological fracture, right shoulder, initial encounter for fracture |
| M80012A | Age-related osteoporosis with current pathological fracture, left shoulder, initial encounter for fracture |
| M80019A | Age-related osteoporosis with current pathological fracture, unspecified shoulder, initial encounter for fracture |
| M80021A | Age-related osteoporosis with current pathological fracture, right humerus, initial encounter for fracture |
| M80022A | Age-related osteoporosis with current pathological fracture, left humerus, initial encounter for fracture |
| M80029A | Age-related osteoporosis with current pathological fracture, unspecified humerus, initial encounter for fracture |
| M80031A | Age-related osteoporosis with current pathological fracture, right forearm, initial encounter for fracture |
| M80032A | Age-related osteoporosis with current pathological fracture, left forearm, initial encounter for fracture |
| M80039A | Age-related osteoporosis with current pathological fracture, unspecified forearm, initial encounter for fracture |
| M80041A | Age-related osteoporosis with current pathological fracture, right hand, initial encounter for fracture |
| M80042A | Age-related osteoporosis with current pathological fracture, left hand, initial encounter for fracture |
| M80049A | Age-related osteoporosis with current pathological fracture, unspecified hand, initial encounter for fracture |
| M80051A | Age-related osteoporosis with current pathological fracture, right femur, initial encounter for fracture |
| M80052A | Age-related osteoporosis with current pathological fracture, left femur, initial encounter for fracture |
| M80059A | Age-related osteoporosis with current pathological fracture, unspecified femur, initial encounter for fracture |
| M80061A | Age-related osteoporosis with current pathological fracture, right lower leg, initial encounter for fracture |
| M80062A | Age-related osteoporosis with current pathological fracture, left lower leg, initial encounter for fracture |
| M80069A | Age-related osteoporosis with current pathological fracture, unspecified lower leg, initial encounter for fracture |
| M80071A | Age-related osteoporosis with current pathological fracture, right ankle and foot, initial encounter for fracture |
| M80072A | Age-related osteoporosis with current pathological fracture, left ankle and foot, initial encounter for fracture |
| M80079A | Age-related osteoporosis with current pathological fracture, unspecified ankle and foot, initial encounter for fracture |
| M8008XA | Age-related osteoporosis with current pathological fracture, vertebra(e), initial encounter for fracture |
| M800AXA | Age-related osteoporosis with current pathological fracture, other site, initial encounter for fracture |
| M800AXK | Age-related osteoporosis with current pathological fracture, other site, subsequent encounter for fracture with nonunion |
| M800AXP | Age-related osteoporosis with current pathological fracture, other site, subsequent encounter for fracture with malunion |
| M800B1A | Age-related osteoporosis with current pathological fracture, right pelvis, initial encounter for fracture |
| M800B1K | Age-related osteoporosis with current pathological fracture, right pelvis, subsequent encounter for fracture with nonunion |
| M800B1P | Age-related osteoporosis with current pathological fracture, right pelvis, subsequent encounter for fracture with malunion |
| M800B2A | Age-related osteoporosis with current pathological fracture, left pelvis, initial encounter for fracture |
| M800B2K | Age-related osteoporosis with current pathological fracture, left pelvis, subsequent encounter for fracture with nonunion |
| M800B2P | Age-related osteoporosis with current pathological fracture, left pelvis, subsequent encounter for fracture with malunion |
| M800B9A | Age-related osteoporosis with current pathological fracture, unspecified pelvis, initial encounter for fracture |
| M800B9K | Age-related osteoporosis with current pathological fracture, unspecified pelvis, subsequent encounter for fracture with nonunion |
| M800B9P | Age-related osteoporosis with current pathological fracture, unspecified pelvis, subsequent encounter for fracture with malunion |
| M8080XA | Other osteoporosis with current pathological fracture, unspecified site, initial encounter for fracture |
| M80811A | Other osteoporosis with current pathological fracture, right shoulder, initial encounter for fracture |
| M80812A | Other osteoporosis with current pathological fracture, left shoulder, initial encounter for fracture |
| M80819A | Other osteoporosis with current pathological fracture, unspecified shoulder, initial encounter for fracture |
| M80821A | Other osteoporosis with current pathological fracture, right humerus, initial encounter for fracture |
| M80822A | Other osteoporosis with current pathological fracture, left humerus, initial encounter for fracture |
| M80829A | Other osteoporosis with current pathological fracture, unspecified humerus, initial encounter for fracture |
| M80831A | Other osteoporosis with current pathological fracture, right forearm, initial encounter for fracture |
| M80832A | Other osteoporosis with current pathological fracture, left forearm, initial encounter for fracture |
| M80839A | Other osteoporosis with current pathological fracture, unspecified forearm, initial encounter for fracture |
| M80841A | Other osteoporosis with current pathological fracture, right hand, initial encounter for fracture |
| M80842A | Other osteoporosis with current pathological fracture, left hand, initial encounter for fracture |
| M80849A | Other osteoporosis with current pathological fracture, unspecified hand, initial encounter for fracture |
| M80851A | Other osteoporosis with current pathological fracture, right femur, initial encounter for fracture |
| M80852A | Other osteoporosis with current pathological fracture, left femur, initial encounter for fracture |
| M80859A | Other osteoporosis with current pathological fracture, unspecified femur, initial encounter for fracture |
| M80861A | Other osteoporosis with current pathological fracture, right lower leg, initial encounter for fracture |
| M80862A | Other osteoporosis with current pathological fracture, left lower leg, initial encounter for fracture |
| M80869A | Other osteoporosis with current pathological fracture, unspecified lower leg, initial encounter for fracture |
| M80871A | Other osteoporosis with current pathological fracture, right ankle and foot, initial encounter for fracture |
| M80872A | Other osteoporosis with current pathological fracture, left ankle and foot, initial encounter for fracture |
| M80879A | Other osteoporosis with current pathological fracture, unspecified ankle and foot, initial encounter for fracture |
| M8088XA | Other osteoporosis with current pathological fracture, vertebra(e), initial encounter for fracture |
| M808AXA | Other osteoporosis with current pathological fracture, other site, initial encounter for fracture |
| M808AXK | Other osteoporosis with current pathological fracture, other site, subsequent encounter for fracture with nonunion |
| M808AXP | Other osteoporosis with current pathological fracture, other site, subsequent encounter for fracture with malunion |
| M808B1A | Other osteoporosis with current pathological fracture, right pelvis, initial encounter for fracture |
| M808B1K | Other osteoporosis with current pathological fracture, right pelvis, subsequent encounter for fracture with nonunion |
| M808B1P | Other osteoporosis with current pathological fracture, right pelvis, subsequent encounter for fracture with malunion |
| M808B2A | Other osteoporosis with current pathological fracture, left pelvis, initial encounter for fracture |
| M808B2K | Other osteoporosis with current pathological fracture, left pelvis, subsequent encounter for fracture with nonunion |
| M808B2P | Other osteoporosis with current pathological fracture, left pelvis, subsequent encounter for fracture with malunion |
| M808B9A | Other osteoporosis with current pathological fracture, unspecified pelvis, initial encounter for fracture |
| M808B9K | Other osteoporosis with current pathological fracture, unspecified pelvis, subsequent encounter for fracture with nonunion |
| M808B9P | Other osteoporosis with current pathological fracture, unspecified pelvis, subsequent encounter for fracture with malunion |
| M8430XA | Stress fracture, unspecified site, initial encounter for fracture |
| M84311A | Stress fracture, right shoulder, initial encounter for fracture |
| M84312A | Stress fracture, left shoulder, initial encounter for fracture |
| M84319A | Stress fracture, unspecified shoulder, initial encounter for fracture |
| M84321A | Stress fracture, right humerus, initial encounter for fracture |
| M84322A | Stress fracture, left humerus, initial encounter for fracture |
| M84329A | Stress fracture, unspecified humerus, initial encounter for fracture |
| M84331A | Stress fracture, right ulna, initial encounter for fracture |
| M84332A | Stress fracture, left ulna, initial encounter for fracture |
| M84333A | Stress fracture, right radius, initial encounter for fracture |
| M84334A | Stress fracture, left radius, initial encounter for fracture |
| M84339A | Stress fracture, unspecified ulna and radius, initial encounter for fracture |
| M84341A | Stress fracture, right hand, initial encounter for fracture |
| M84342A | Stress fracture, left hand, initial encounter for fracture |
| M84343A | Stress fracture, unspecified hand, initial encounter for fracture |
| M84344A | Stress fracture, right finger(s), initial encounter for fracture |
| M84345A | Stress fracture, left finger(s), initial encounter for fracture |
| M84346A | Stress fracture, unspecified finger(s), initial encounter for fracture |
| M84350A | Stress fracture, pelvis, initial encounter for fracture |
| M84351A | Stress fracture, right femur, initial encounter for fracture |
| M84352A | Stress fracture, left femur, initial encounter for fracture |
| M84353A | Stress fracture, unspecified femur, initial encounter for fracture |
| M84359A | Stress fracture, hip, unspecified, initial encounter for fracture |
| M84361A | Stress fracture, right tibia, initial encounter for fracture |
| M84362A | Stress fracture, left tibia, initial encounter for fracture |
| M84363A | Stress fracture, right fibula, initial encounter for fracture |
| M84364A | Stress fracture, left fibula, initial encounter for fracture |
| M84369A | Stress fracture, unspecified tibia and fibula, initial encounter for fracture |
| M84371A | Stress fracture, right ankle, initial encounter for fracture |
| M84372A | Stress fracture, left ankle, initial encounter for fracture |
| M84373A | Stress fracture, unspecified ankle, initial encounter for fracture |
| M84374A | Stress fracture, right foot, initial encounter for fracture |
| M84375A | Stress fracture, left foot, initial encounter for fracture |
| M84376A | Stress fracture, unspecified foot, initial encounter for fracture |
| M84377A | Stress fracture, right toe(s), initial encounter for fracture |
| M84378A | Stress fracture, left toe(s), initial encounter for fracture |
| M84379A | Stress fracture, unspecified toe(s), initial encounter for fracture |
| M8438XA | Stress fracture, other site, initial encounter for fracture |
| M8440XA | Pathological fracture, unspecified site, initial encounter for fracture |
| M84411A | Pathological fracture, right shoulder, initial encounter for fracture |
| M84412A | Pathological fracture, left shoulder, initial encounter for fracture |
| M84419A | Pathological fracture, unspecified shoulder, initial encounter for fracture |
| M84421A | Pathological fracture, right humerus, initial encounter for fracture |
| M84422A | Pathological fracture, left humerus, initial encounter for fracture |
| M84429A | Pathological fracture, unspecified humerus, initial encounter for fracture |
| M84431A | Pathological fracture, right ulna, initial encounter for fracture |
| M84432A | Pathological fracture, left ulna, initial encounter for fracture |
| M84433A | Pathological fracture, right radius, initial encounter for fracture |
| M84434A | Pathological fracture, left radius, initial encounter for fracture |
| M84439A | Pathological fracture, unspecified ulna and radius, initial encounter for fracture |
| M84441A | Pathological fracture, right hand, initial encounter for fracture |
| M84442A | Pathological fracture, left hand, initial encounter for fracture |
| M84443A | Pathological fracture, unspecified hand, initial encounter for fracture |
| M84444A | Pathological fracture, right finger(s), initial encounter for fracture |
| M84445A | Pathological fracture, left finger(s), initial encounter for fracture |
| M84446A | Pathological fracture, unspecified finger(s), initial encounter for fracture |
| M84451A | Pathological fracture, right femur, initial encounter for fracture |
| M84452A | Pathological fracture, left femur, initial encounter for fracture |
| M84453A | Pathological fracture, unspecified femur, initial encounter for fracture |
| M84454A | Pathological fracture, pelvis, initial encounter for fracture |
| M84459A | Pathological fracture, hip, unspecified, initial encounter for fracture |
| M84461A | Pathological fracture, right tibia, initial encounter for fracture |
| M84462A | Pathological fracture, left tibia, initial encounter for fracture |
| M84463A | Pathological fracture, right fibula, initial encounter for fracture |
| M84464A | Pathological fracture, left fibula, initial encounter for fracture |
| M84469A | Pathological fracture, unspecified tibia and fibula, initial encounter for fracture |
| M84471A | Pathological fracture, right ankle, initial encounter for fracture |
| M84472A | Pathological fracture, left ankle, initial encounter for fracture |
| M84473A | Pathological fracture, unspecified ankle, initial encounter for fracture |
| M84474A | Pathological fracture, right foot, initial encounter for fracture |
| M84475A | Pathological fracture, left foot, initial encounter for fracture |
| M84476A | Pathological fracture, unspecified foot, initial encounter for fracture |
| M84477A | Pathological fracture, right toe(s), initial encounter for fracture |
| M84478A | Pathological fracture, left toe(s), initial encounter for fracture |
| M84479A | Pathological fracture, unspecified toe(s), initial encounter for fracture |
| M8448XA | Pathological fracture, other site, initial encounter for fracture |
| |
| PDX Collection 6532 |
| E7871 | Barth syndrome |
| E7872 | Smith-Lemli-Opitz syndrome |
| P2930 | Pulmonary hypertension of newborn |
| P2938 | Other persistent fetal circulation |
| Q209 | Congenital malformation of cardiac chambers and connections, unspecified |
| Q220 | Pulmonary valve atresia |
| Q221 | Congenital pulmonary valve stenosis |
| Q222 | Congenital pulmonary valve insufficiency |
| Q223 | Other congenital malformations of pulmonary valve |
| Q238 | Other congenital malformations of aortic and mitral valves |
| Q239 | Congenital malformation of aortic and mitral valves, unspecified |
| Q248 | Other specified congenital malformations of heart |
| Q249 | Congenital malformation of heart, unspecified |
| Q2730 | Arteriovenous malformation, site unspecified |
| Q274 | Congenital phlebectasia |
| Q280 | Arteriovenous malformation of precerebral vessels |
| Q281 | Other malformations of precerebral vessels |
| Q288 | Other specified congenital malformations of circulatory system |
| Q289 | Congenital malformation of circulatory system, unspecified |
| 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 |
| Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q898 | Other specified congenital malformations |
| Q992 | Fragile X chromosome |
| |
| PDX Collection 6533 |
| 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 |
| 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 |
| 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 |
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