Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162709 Orphanet classification of rare surgical thoracic diseases 97962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97962 Rare surgical thoracic disease Category 97330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97330 Thoracic outlet syndrome Disease 100073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100073 Neurogenic thoracic outlet syndrome Clinical subtype 357107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357107 Arterial thoracic outlet syndrome Clinical subtype 357131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357131 Venous thoracic outlet syndrome Clinical subtype 108993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108993 Non-syndromic respiratory or mediastinal malformation Category 3346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 Tracheal agenesis Morphological anomaly 1928 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928 Congenital lobar emphysema Morphological anomaly 2004 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 Laryngotracheoesophageal cleft Morphological anomaly 93938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 Laryngotracheoesophageal cleft type 1 Clinical subtype 93939 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939 Laryngotracheoesophageal cleft type 2 Clinical subtype 93940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940 Laryngotracheoesophageal cleft type 3 Clinical subtype 93941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 Laryngotracheoesophageal cleft type 4 Clinical subtype 280205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 Laryngotracheoesophageal cleft type 0 Clinical subtype 2414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414 Congenital pulmonary lymphangiectasia Disease 2444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444 Congenital pulmonary airway malformation Malformation syndrome 280827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827 Congenital pulmonary airway malformation type 0 Clinical subtype 280832 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832 Congenital pulmonary airway malformation type 1 Clinical subtype 280840 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840 Congenital pulmonary airway malformation type 2 Clinical subtype 280847 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847 Congenital pulmonary airway malformation type 3 Clinical subtype 280854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854 Congenital pulmonary airway malformation type 4 Clinical subtype 984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984 Pulmonary agenesis Morphological anomaly 2040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 Congenital respiratory-biliary fistula Morphological anomaly 2257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257 Primary pulmonary hypoplasia Morphological anomaly 2038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038 Pulmonary arteriovenous malformation Morphological anomaly 3161 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161 Congenital pulmonary sequestration Malformation syndrome 280802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280802 Intralobar congenital pulmonary sequestration Clinical subtype 280811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280811 Extralobar congenital pulmonary sequestration Clinical subtype 280821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280821 Communicating congenital bronchopulmonary-foregut malformation Clinical subtype 70589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589 Bronchopulmonary dysplasia Malformation syndrome 95430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430 Congenital tracheomalacia Morphological anomaly 411501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411501 Williams-Campbell syndrome Morphological anomaly 700286 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700286 Congenital high airway obstruction syndrome Clinical syndrome 649014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649014 Bronchial malformation Clinical group 648992 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648992 Non-syndromic bridging bronchus Morphological anomaly 649010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649010 Non-syndromic congenital bronchial atresia Morphological anomaly 649029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649029 Isolated left bronchial isomerism Morphological anomaly 2357 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357 Bronchogenic cyst Morphological anomaly 454750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750 Isolated tracheoesophageal fistula Morphological anomaly 108995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108995 Syndromic respiratory or mediastinal malformation Category 2470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 Matthew-Wood syndrome Malformation syndrome 994 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 Fetal akinesia deformation sequence Malformation syndrome 1120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120 Lung agenesis-heart defect-thumb anomalies syndrome Malformation syndrome 1132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 Aortic arch defects Category 99075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075 Encircling double aortic arch Morphological anomaly 99076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076 Persistent fifth aortic arch Morphological anomaly 99077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077 Kommerell diverticulum Morphological anomaly 99078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078 Neuhauser anomaly Morphological anomaly 99079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079 Cervical aortic arch Morphological anomaly 99081 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081 Right aortic arch Morphological anomaly 99082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082 Dysphagia lusoria Morphological anomaly 3035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035 Growth delay-hydrocephaly-lung hypoplasia syndrome Malformation syndrome 2407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 Laryngo-onycho-cutaneous syndrome Disease 2745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 Opitz GBBB syndrome Malformation syndrome 1486 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 Lethal congenital contracture syndrome type 1 Malformation syndrome 180776 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180776 Non-syndromic diaphragmatic or thoracic malformation Category 2140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140 Congenital diaphragmatic hernia Morphological anomaly 2017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2017 Sternal cleft Morphological anomaly 180779 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180779 Syndromic diaphragmatic or thoracic malformation Category 496693 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Malformation syndrome 480528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 Lethal hydranencephaly-diaphragmatic hernia syndrome Malformation syndrome 280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 Wolf-Hirschhorn syndrome Malformation syndrome 199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 Cornelia de Lange syndrome Malformation syndrome 884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 Pallister-Killian syndrome Malformation syndrome 287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 Classical Ehlers-Danlos syndrome Disease 373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 Simpson-Golabi-Behmel syndrome Malformation syndrome 991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 PAGOD syndrome Malformation syndrome 1335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335 Pentalogy of Cantrell Malformation syndrome 2141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141 Diaphragmatic defect-limb deficiency-skull defect syndrome Malformation syndrome 2143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 Donnai-Barrow syndrome Malformation syndrome 2322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 Kabuki syndrome Malformation syndrome 2470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 Matthew-Wood syndrome Malformation syndrome 209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209 Cutis laxa Clinical group 2078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 Geroderma osteodysplastica Malformation syndrome 2962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 De Barsy syndrome Disease 35664 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 ALDH18A1-related De Barsy syndrome Etiological subtype 293633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 PYCR1-related De Barsy syndrome Etiological subtype 3134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 SCARF syndrome Malformation syndrome 3342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 Arterial tortuosity syndrome Malformation syndrome 198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 Occipital horn syndrome Disease 90348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 Autosomal dominant cutis laxa Disease 90349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 Autosomal recessive cutis laxa type 1 Disease 90350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 Autosomal recessive cutis laxa type 2 Clinical group 357058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 Autosomal recessive cutis laxa type 2A Disease 2834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 Wrinkly skin syndrome Clinical subtype 357074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 Autosomal recessive cutis laxa type 2, classic type Clinical subtype 357064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 Autosomal recessive cutis laxa type 2B Disease 217335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 RIN2 syndrome Malformation syndrome 221145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Malformation syndrome 314718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency Disease 363705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 Craniofaciofrontodigital syndrome Disease 96170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170 Emanuel syndrome Malformation syndrome 230839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 Classical-like Ehlers-Danlos syndrome type 1 Disease 527468 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 Diaphragmatic hernia-short bowel-asplenia syndrome Malformation syndrome 285014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285014 Rare disease with thoracic aortic aneurysm and aortic dissection Category 622925 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925 X-linked severe syndromic thoracic aortic aneurysm and dissection Malformation syndrome 558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 Marfan syndrome Disease 284963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 Marfan syndrome type 1 Clinical subtype 284973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 Marfan syndrome type 2 Clinical subtype 3342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 Arterial tortuosity syndrome Malformation syndrome 286 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 Vascular Ehlers-Danlos syndrome Disease 60030 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030 Loeys-Dietz syndrome Malformation syndrome 91387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91387 Familial thoracic aortic aneurysm and aortic dissection Disease 284979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979 Neonatal Marfan syndrome Disease 284984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984 Aneurysm-osteoarthritis syndrome Disease 402075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 Familial bicuspid aortic valve Morphological anomaly 229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229 Familial aortic dissection Disease 404463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 Multisystemic smooth muscle dysfunction syndrome Disease