| PDX Collection 1485 (continued) |
| 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 1486 |
| E7871 | Barth syndrome |
| E7872 | Smith-Lemli-Opitz syndrome |
| Q209 | Congenital malformation of cardiac chambers and connections, unspecified |
| Q2381 | Bicuspid aortic valve |
| Q2382 | Congenital mitral valve cleft leaflet |
| Q2388 | Other congenital malformations of aortic and mitral valves |
| Q239 | Congenital malformation of aortic and mitral valves, unspecified |
| Q240 | Dextrocardia |
| Q241 | Levocardia |
| Q242 | Cor triatriatum |
| Q243 | Pulmonary infundibular stenosis |
| Q244 | Congenital subaortic stenosis |
| 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 |
| Q872 | Congenital malformation syndromes predominantly involving limbs |
| Q873 | Congenital malformation syndromes involving early overgrowth |
| 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 |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q8981 | Kabuki syndrome |
| Q8989 | Other specified congenital malformations |
| 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 1487 |
| 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 |
| Q2381 | Bicuspid aortic valve |
| Q2382 | Congenital mitral valve cleft leaflet |
| Q2388 | Other congenital malformations of aortic and mitral valves |
| Q239 | Congenital malformation of aortic and mitral valves, unspecified |
| Q242 | Cor triatriatum |
| Q243 | Pulmonary infundibular stenosis |
| Q244 | Congenital subaortic stenosis |
| 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 |
| Q8786 | Kleefstra syndrome |
| Q8787 | Hao-Fountain Syndrome |
| Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q897 | Multiple congenital malformations, 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 1488 |
| Q209 | Congenital malformation of cardiac chambers and connections, unspecified |
| Q2381 | Bicuspid aortic valve |
| Q2382 | Congenital mitral valve cleft leaflet |
| Q2388 | Other congenital malformations of aortic and mitral valves |
| Q239 | Congenital malformation of aortic and mitral valves, unspecified |
| Q245 | Malformation of coronary vessels |
| Q248 | Other specified congenital malformations of heart |
| Q249 | Congenital malformation of heart, unspecified |
| |
| PDX Collection 1489 |
| 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 |
| Q2381 | Bicuspid aortic valve |
| Q2382 | Congenital mitral valve cleft leaflet |
| Q2388 | Other congenital malformations of aortic and mitral valves |
| Q239 | Congenital malformation of aortic and mitral valves, unspecified |
| Q246 | Congenital heart block |
| 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 |
| Q8786 | Kleefstra syndrome |
| Q8787 | Hao-Fountain Syndrome |
| Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q897 | Multiple congenital malformations, 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 1490 |
| Q250 | Patent ductus arteriosus |
| 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 |
| |
| PDX Collection 1491 |
| E7871 | Barth syndrome |
| E7872 | Smith-Lemli-Opitz syndrome |
| Q251 | Coarctation of aorta |
| Q2521 | Interruption of aortic arch |
| Q2529 | Other atresia of aorta |
| Q253 | Supravalvular aortic stenosis |
| 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 |
| Q872 | Congenital malformation syndromes predominantly involving limbs |
| Q873 | Congenital malformation syndromes involving early overgrowth |
| 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 |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q8981 | Kabuki syndrome |
| Q8989 | Other specified congenital malformations |
| 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 1492 |
| E7871 | Barth syndrome |
| E7872 | Smith-Lemli-Opitz syndrome |
| P2930 | Pulmonary hypertension of newborn |
| P2938 | Other persistent fetal circulation |
| Q251 | Coarctation of aorta |
| Q2521 | Interruption of aortic arch |
| Q2529 | Other atresia of aorta |
| Q253 | Supravalvular aortic stenosis |
| 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 |
| Q8786 | Kleefstra syndrome |
| Q8787 | Hao-Fountain Syndrome |
| Q8789 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q897 | Multiple congenital malformations, 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 1493 |
| E7871 | Barth syndrome |
| E7872 | Smith-Lemli-Opitz syndrome |
| Q251 | Coarctation of aorta |
| Q2521 | Interruption of aortic arch |
| Q2529 | Other atresia of aorta |
| Q253 | Supravalvular aortic stenosis |
| Q2540 | Congenital malformation of aorta unspecified |
| Q2541 | Absence and aplasia of aorta |
| Q2542 | Hypoplasia of aorta |
| Q2543 | Congenital aneurysm of aorta |
| Q2544 | Congenital dilation of aorta |
| Q2545 | Double aortic arch |
| Q2546 | Tortuous aortic arch |
| Q2547 | Right aortic arch |
| Q2548 | Anomalous origin of subclavian artery |
| Q2549 | Other congenital malformations of aorta |
| Q258 | Other congenital malformations of other great arteries |
| Q259 | Congenital malformation of great arteries, 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 |
| Q872 | Congenital malformation syndromes predominantly involving limbs |
| Q873 | Congenital malformation syndromes involving early overgrowth |
| 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 |
| Q897 | Multiple congenital malformations, not elsewhere classified |
| Q8981 | Kabuki syndrome |
| Q8989 | Other specified congenital malformations |
| 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 1494 |
| Q255 | Atresia of pulmonary artery |
| Q256 | Stenosis of pulmonary artery |
| Q2571 | Coarctation of pulmonary artery |
| Q2572 | Congenital pulmonary arteriovenous malformation |
| Q2579 | Other congenital malformations of pulmonary artery |
| 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 |
| |
| PDX Collection 1495 |
| Q260 | Congenital stenosis of vena cava |
| Q261 | Persistent left superior vena cava |
| Q268 | Other congenital malformations of great veins |
| 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 |
| |
| PDX Collection 1496 |
| Q262 | Total anomalous pulmonary venous connection |
| 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 |
| |
| PDX Collection 1497 |
| Q263 | Partial anomalous pulmonary venous connection |
| Q264 | Anomalous pulmonary venous connection, 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 |
| |
| PDX Collection 1498 |
| Q269 | Congenital malformation of great vein, 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 |