| PDX Collection 1491 (continued) |
| 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 |
| Q87A | Loeys-Dietz syndrome |
| 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 |
| Q87A | Loeys-Dietz syndrome |
| 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 |
| |
| PDX Collection 1499 |
| Q200 | Common arterial trunk |
| Q201 | Double outlet right ventricle |
| Q202 | Double outlet left ventricle |
| Q203 | Discordant ventriculoarterial connection |
| Q204 | Double inlet ventricle |
| Q205 | Discordant atrioventricular connection |
| Q206 | Isomerism of atrial appendages |
| Q208 | Other congenital malformations of cardiac chambers and connections |
| Q210 | Ventricular septal defect |
| Q2110 | Atrial septal defect, unspecified |
| Q2111 | Secundum atrial septal defect |
| Q2112 | Patent foramen ovale |
| Q2113 | Coronary sinus atrial septal defect |
| Q2114 | Superior sinus venosus atrial septal defect |
| Q2115 | Inferior sinus venosus atrial septal defect |
| Q2116 | Sinus venosus atrial septal defect, unspecified |
| Q2119 | Other specified atrial septal defect |
| Q2120 | Atrioventricular septal defect, unspecified as to partial or complete |
| Q2121 | Partial atrioventricular septal defect |
| Q2122 | Transitional atrioventricular septal defect |
| Q2123 | Complete atrioventricular septal defect |
| Q213 | Tetralogy of Fallot |
| Q214 | Aortopulmonary septal defect |
| Q218 | Other congenital malformations of cardiac septa |
| Q219 | Congenital malformation of cardiac septum, 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 |
| |
| PDX Collection 1500 |
| Q2730 | Arteriovenous malformation, site unspecified |
| Q274 | Congenital phlebectasia |
| Q280 | Arteriovenous malformation of precerebral vessels |
| Q281 | Other malformations of precerebral vessels |
| Q282 | Arteriovenous malformation of cerebral vessels |
| Q283 | Other malformations of cerebral vessels |
| Q288 | Other specified congenital malformations of circulatory system |
| Q289 | Congenital malformation of circulatory system, unspecified |
| |
| PDX Collection 1501 |
| Q200 | Common arterial trunk |
| Q201 | Double outlet right ventricle |
| Q202 | Double outlet left ventricle |
| Q203 | Discordant ventriculoarterial connection |
| Q204 | Double inlet ventricle |
| Q205 | Discordant atrioventricular connection |
| Q206 | Isomerism of atrial appendages |
| Q208 | Other congenital malformations of cardiac chambers and connections |
| Q209 | Congenital malformation of cardiac chambers and connections, unspecified |
| Q210 | Ventricular septal defect |
| Q2110 | Atrial septal defect, unspecified |
| Q2111 | Secundum atrial septal defect |
| Q2112 | Patent foramen ovale |
| Q2113 | Coronary sinus atrial septal defect |
| Q2114 | Superior sinus venosus atrial septal defect |
| Q2115 | Inferior sinus venosus atrial septal defect |
| Q2116 | Sinus venosus atrial septal defect, unspecified |
| Q2119 | Other specified atrial septal defect |
| Q2120 | Atrioventricular septal defect, unspecified as to partial or complete |
| Q2121 | Partial atrioventricular septal defect |
| Q2122 | Transitional atrioventricular septal defect |
| Q2123 | Complete atrioventricular septal defect |
| Q213 | Tetralogy of Fallot |
| Q214 | Aortopulmonary septal defect |
| Q218 | Other congenital malformations of cardiac septa |
| Q219 | Congenital malformation of cardiac septum, unspecified |
| Q220 | Pulmonary valve atresia |
| Q221 | Congenital pulmonary valve stenosis |
| Q222 | Congenital pulmonary valve insufficiency |
| Q223 | Other congenital malformations of pulmonary valve |
| Q224 | Congenital tricuspid stenosis |
| Q225 | Ebstein's anomaly |
| Q226 | Hypoplastic right heart syndrome |
| Q228 | Other congenital malformations of tricuspid valve |
| Q229 | Congenital malformation of tricuspid valve, unspecified |
| Q230 | Congenital stenosis of aortic valve |
| Q231 | Congenital insufficiency of aortic valve |
| Q232 | Congenital mitral stenosis |
| Q233 | Congenital mitral insufficiency |
| Q234 | Hypoplastic left heart syndrome |
| 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 |
| Q245 | Malformation of coronary vessels |
| Q246 | Congenital heart block |
| Q248 | Other specified congenital malformations of heart |
| Q249 | Congenital malformation of heart, unspecified |
| Q250 | Patent ductus arteriosus |
| 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 |
| 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 |
| Q258 | Other congenital malformations of other great arteries |
| Q259 | Congenital malformation of great arteries, unspecified |
| Q260 | Congenital stenosis of vena cava |
| Q261 | Persistent left superior vena cava |
| Q262 | Total anomalous pulmonary venous connection |
| Q263 | Partial anomalous pulmonary venous connection |
| Q264 | Anomalous pulmonary venous connection, unspecified |
| Q265 | Anomalous portal venous connection |
| Q266 | Portal vein-hepatic artery fistula |
| Q268 | Other congenital malformations of great veins |
| Q269 | Congenital malformation of great vein, unspecified |
| Q270 | Congenital absence and hypoplasia of umbilical artery |
| Q271 | Congenital renal artery stenosis |
| Q272 | Other congenital malformations of renal artery |
| Q2730 | Arteriovenous malformation, site unspecified |
| Q2731 | Arteriovenous malformation of vessel of upper limb |
| Q2732 | Arteriovenous malformation of vessel of lower limb |
| Q2733 | Arteriovenous malformation of digestive system vessel |
| Q2734 | Arteriovenous malformation of renal vessel |
| Q2739 | Arteriovenous malformation, other site |
| Q274 | Congenital phlebectasia |
| Q278 | Other specified congenital malformations of peripheral vascular system |
| Q279 | Congenital malformation of peripheral vascular system, unspecified |
| Q280 | Arteriovenous malformation of precerebral vessels |
| Q281 | Other malformations of precerebral vessels |
| Q282 | Arteriovenous malformation of cerebral vessels |
| Q283 | Other malformations of cerebral vessels |
| Q288 | Other specified congenital malformations of circulatory system |
| Q289 | Congenital malformation of circulatory system, unspecified |
| |
| PDX Collection 1502 |
| J398 | Other specified diseases of upper respiratory tract |
| J45990 | Exercise induced bronchospasm |
| J9809 | Other diseases of bronchus, not elsewhere classified |
| Q311 | Congenital subglottic stenosis |
| Q312 | Laryngeal hypoplasia |
| Q313 | Laryngocele |
| Q315 | Congenital laryngomalacia |
| Q318 | Other congenital malformations of larynx |
| Q319 | Congenital malformation of larynx, unspecified |
| Q320 | Congenital tracheomalacia |
| Q321 | Other congenital malformations of trachea |
| Q322 | Congenital bronchomalacia |
| Q323 | Congenital stenosis of bronchus |
| Q324 | Other congenital malformations of bronchus |
| Q340 | Anomaly of pleura |
| Q341 | Congenital cyst of mediastinum |
| Q348 | Other specified congenital malformations of respiratory system |
| Q349 | Congenital malformation of respiratory system, unspecified |
| |
| PDX Collection 1503 |
| Q330 | Congenital cystic lung |
| Q331 | Accessory lobe of lung |
| Q332 | Sequestration of lung |
| Q333 | Agenesis of lung |
| Q334 | Congenital bronchiectasis |
| Q335 | Ectopic tissue in lung |
| Q336 | Congenital hypoplasia and dysplasia of lung |
| Q338 | Other congenital malformations of lung |
| Q339 | Congenital malformation of lung, unspecified |
| Q340 | Anomaly of pleura |
| Q341 | Congenital cyst of mediastinum |
| Q348 | Other specified congenital malformations of respiratory system |
| Q349 | Congenital malformation of respiratory system, unspecified |
| |
| PDX Collection 1504 |
| J4481 | Bronchiolitis obliterans and bronchiolitis obliterans syndrome |
| J4489 | Other specified chronic obstructive pulmonary disease |
| J449 | Chronic obstructive pulmonary disease, unspecified |
| J470 | Bronchiectasis with acute lower respiratory infection |
| J471 | Bronchiectasis with (acute) exacerbation |
| J479 | Bronchiectasis, uncomplicated |
| J4A0 | Restrictive allograft syndrome |
| J4A8 | Other chronic lung allograft dysfunction |
| J4A9 | Chronic lung allograft dysfunction, unspecified |
| J681 | Pulmonary edema due to chemicals, gases, fumes and vapors |
| J684 | Chronic respiratory conditions due to chemicals, gases, fumes and vapors |
| J688 | Other respiratory conditions due to chemicals, gases, fumes and vapors |
| J689 | Unspecified respiratory condition due to chemicals, gases, fumes and vapors |
| Q334 | Congenital bronchiectasis |
| |
| PDX Collection 1505 |
| Q390 | Atresia of esophagus without fistula |
| Q391 | Atresia of esophagus with tracheo-esophageal fistula |
| Q392 | Congenital tracheo-esophageal fistula without atresia |
| Q393 | Congenital stenosis and stricture of esophagus |
| Q394 | Esophageal web |
| Q395 | Congenital dilatation of esophagus |
| Q396 | Congenital diverticulum of esophagus |
| Q398 | Other congenital malformations of esophagus |
| Q399 | Congenital malformation of esophagus, unspecified |
| Q458 | Other specified congenital malformations of digestive system |
| Q459 | Congenital malformation of digestive system, unspecified |
| |
| PDX Collection 1506 |
| Q395 | Congenital dilatation of esophagus |
| Q396 | Congenital diverticulum of esophagus |
| Q398 | Other congenital malformations of esophagus |
| Q399 | Congenital malformation of esophagus, unspecified |
| Q458 | Other specified congenital malformations of digestive system |
| Q459 | Congenital malformation of digestive system, unspecified |
| |
| PDX Collection 1507 |
| Q410 | Congenital absence, atresia and stenosis of duodenum |
| Q411 | Congenital absence, atresia and stenosis of jejunum |
| Q412 | Congenital absence, atresia and stenosis of ileum |
| Q418 | Congenital absence, atresia and stenosis of other specified parts of small intestine |
| Q419 | Congenital absence, atresia and stenosis of small intestine, part unspecified |
| Q458 | Other specified congenital malformations of digestive system |
| Q459 | Congenital malformation of digestive system, unspecified |
| |
| PDX Collection 1508 |
| Q420 | Congenital absence, atresia and stenosis of rectum with fistula |
| Q421 | Congenital absence, atresia and stenosis of rectum without fistula |
| Q422 | Congenital absence, atresia and stenosis of anus with fistula |
| Q423 | Congenital absence, atresia and stenosis of anus without fistula |
| Q428 | Congenital absence, atresia and stenosis of other parts of large intestine |
| Q429 | Congenital absence, atresia and stenosis of large intestine, part unspecified |
| Q458 | Other specified congenital malformations of digestive system |
| Q459 | Congenital malformation of digestive system, unspecified |
| |
| PDX Collection 1509 |
| Q431 | Hirschsprung's disease |
| Q432 | Other congenital functional disorders of colon |
| Q458 | Other specified congenital malformations of digestive system |
| Q459 | Congenital malformation of digestive system, unspecified |
| |
| PDX Collection 1510 |
| Q433 | Congenital malformations of intestinal fixation |
| Q434 | Duplication of intestine |
| Q435 | Ectopic anus |
| Q436 | Congenital fistula of rectum and anus |
| Q437 | Persistent cloaca |
| Q438 | Other specified congenital malformations of intestine |
| Q439 | Congenital malformation of intestine, unspecified |
| |
| PDX Collection 1511 |
| Q410 | Congenital absence, atresia and stenosis of duodenum |
| Q411 | Congenital absence, atresia and stenosis of jejunum |
| Q412 | Congenital absence, atresia and stenosis of ileum |
| Q418 | Congenital absence, atresia and stenosis of other specified parts of small intestine |
| Q419 | Congenital absence, atresia and stenosis of small intestine, part unspecified |
| Q420 | Congenital absence, atresia and stenosis of rectum with fistula |
| Q421 | Congenital absence, atresia and stenosis of rectum without fistula |
| Q422 | Congenital absence, atresia and stenosis of anus with fistula |
| Q423 | Congenital absence, atresia and stenosis of anus without fistula |
| Q428 | Congenital absence, atresia and stenosis of other parts of large intestine |
| Q429 | Congenital absence, atresia and stenosis of large intestine, part unspecified |
| Q430 | Meckel's diverticulum (displaced) (hypertrophic) |
| Q431 | Hirschsprung's disease |
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