Orphanet classification: Rare surgical thoracic disease (ORPHA:97962)
Disorder type: Category
Subcategories and diseases:
Name: Thoracic outlet syndrome
OrphaCode: 97330
DisorderType: Disease
Children: Name: Neurogenic thoracic outlet syndrome
OrphaCode: 100073
DisorderType: Clinical subtype
Name: Arterial thoracic outlet syndrome
OrphaCode: 357107
DisorderType: Clinical subtype
Name: Venous thoracic outlet syndrome
OrphaCode: 357131
DisorderType: Clinical subtype
Name: Non-syndromic respiratory or mediastinal malformation
OrphaCode: 108993
DisorderType: Category
Children: Name: Tracheal agenesis
OrphaCode: 3346
DisorderType: Morphological anomaly
Name: Congenital lobar emphysema
OrphaCode: 1928
DisorderType: Morphological anomaly
Name: Laryngotracheoesophageal cleft
OrphaCode: 2004
DisorderType: Morphological anomaly
Children: Name: Laryngotracheoesophageal cleft type 1
OrphaCode: 93938
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 2
OrphaCode: 93939
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 3
OrphaCode: 93940
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 4
OrphaCode: 93941
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 0
OrphaCode: 280205
DisorderType: Clinical subtype
Name: Congenital pulmonary lymphangiectasia
OrphaCode: 2414
DisorderType: Disease
Name: Congenital pulmonary airway malformation
OrphaCode: 2444
DisorderType: Malformation syndrome
Children: Name: Congenital pulmonary airway malformation type 0
OrphaCode: 280827
DisorderType: Clinical subtype
Name: Congenital pulmonary airway malformation type 1
OrphaCode: 280832
DisorderType: Clinical subtype
Name: Congenital pulmonary airway malformation type 2
OrphaCode: 280840
DisorderType: Clinical subtype
Name: Congenital pulmonary airway malformation type 3
OrphaCode: 280847
DisorderType: Clinical subtype
Name: Congenital pulmonary airway malformation type 4
OrphaCode: 280854
DisorderType: Clinical subtype
Name: Pulmonary agenesis
OrphaCode: 984
DisorderType: Morphological anomaly
Name: Congenital respiratory-biliary fistula
OrphaCode: 2040
DisorderType: Morphological anomaly
Name: Primary pulmonary hypoplasia
OrphaCode: 2257
DisorderType: Morphological anomaly
Name: Pulmonary arteriovenous malformation
OrphaCode: 2038
DisorderType: Morphological anomaly
Name: Congenital pulmonary sequestration
OrphaCode: 3161
DisorderType: Malformation syndrome
Children: Name: Intralobar congenital pulmonary sequestration
OrphaCode: 280802
DisorderType: Clinical subtype
Name: Extralobar congenital pulmonary sequestration
OrphaCode: 280811
DisorderType: Clinical subtype
Name: Communicating congenital bronchopulmonary-foregut malformation
OrphaCode: 280821
DisorderType: Clinical subtype
Name: Bronchopulmonary dysplasia
OrphaCode: 70589
DisorderType: Malformation syndrome
Name: Congenital tracheomalacia
OrphaCode: 95430
DisorderType: Morphological anomaly
Name: Williams-Campbell syndrome
OrphaCode: 411501
DisorderType: Morphological anomaly
Name: Bronchial malformation
OrphaCode: 649014
DisorderType: Clinical group
Children: Name: Non-syndromic bridging bronchus
OrphaCode: 648992
DisorderType: Morphological anomaly
Name: Non-syndromic congenital bronchial atresia
OrphaCode: 649010
DisorderType: Morphological anomaly
Name: Isolated left bronchial isomerism
OrphaCode: 649029
DisorderType: Morphological anomaly
Name: Bronchogenic cyst
OrphaCode: 2357
DisorderType: Morphological anomaly
Name: Isolated tracheoesophageal fistula
OrphaCode: 454750
DisorderType: Morphological anomaly
Name: Syndromic respiratory or mediastinal malformation
OrphaCode: 108995
DisorderType: Category
Children: Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Fetal akinesia deformation sequence
OrphaCode: 994
DisorderType: Malformation syndrome
Name: Lung agenesis-heart defect-thumb anomalies syndrome
OrphaCode: 1120
DisorderType: Malformation syndrome
Name: Aortic arch defects
OrphaCode: 1132
DisorderType: Category
Children: Name: Encircling double aortic arch
OrphaCode: 99075
DisorderType: Morphological anomaly
Name: Persistent fifth aortic arch
OrphaCode: 99076
DisorderType: Morphological anomaly
Name: Kommerell diverticulum
OrphaCode: 99077
DisorderType: Morphological anomaly
Name: Neuhauser anomaly
OrphaCode: 99078
DisorderType: Morphological anomaly
Name: Cervical aortic arch
OrphaCode: 99079
DisorderType: Morphological anomaly
Name: Right aortic arch
OrphaCode: 99081
DisorderType: Morphological anomaly
Name: Dysphagia lusoria
OrphaCode: 99082
DisorderType: Morphological anomaly
Name: Growth delay-hydrocephaly-lung hypoplasia syndrome
OrphaCode: 3035
DisorderType: Malformation syndrome
Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 1
OrphaCode: 1486
DisorderType: Malformation syndrome
Name: Non-syndromic diaphragmatic or thoracic malformation
OrphaCode: 180776
DisorderType: Category
Children: Name: Congenital diaphragmatic hernia
OrphaCode: 2140
DisorderType: Morphological anomaly
Name: Sternal cleft
OrphaCode: 2017
DisorderType: Morphological anomaly
Name: Syndromic diaphragmatic or thoracic malformation
OrphaCode: 180779
DisorderType: Category
Children: Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Lethal hydranencephaly-diaphragmatic hernia syndrome
OrphaCode: 480528
DisorderType: Malformation syndrome
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Pentalogy of Cantrell
OrphaCode: 1335
DisorderType: Malformation syndrome
Name: Diaphragmatic defect-limb deficiency-skull defect syndrome
OrphaCode: 2141
DisorderType: Malformation syndrome
Name: Donnai-Barrow syndrome
OrphaCode: 2143
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Cutis laxa
OrphaCode: 209
DisorderType: Clinical group
Children: Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: Autosomal dominant cutis laxa
OrphaCode: 90348
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 1
OrphaCode: 90349
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
OrphaCode: 221145
DisorderType: Malformation syndrome
Name: Lethal arteriopathy syndrome due to fibulin-4 deficiency
OrphaCode: 314718
DisorderType: Disease
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Emanuel syndrome
OrphaCode: 96170
DisorderType: Malformation syndrome
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Diaphragmatic hernia-short bowel-asplenia syndrome
OrphaCode: 527468
DisorderType: Malformation syndrome
Name: Rare disease with thoracic aortic aneurysm and aortic dissection
OrphaCode: 285014
DisorderType: Category
Children: Name: X-linked severe syndromic thoracic aortic aneurysm and dissection
OrphaCode: 622925
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Vascular Ehlers-Danlos syndrome
OrphaCode: 286
DisorderType: Disease
Name: Loeys-Dietz syndrome
OrphaCode: 60030
DisorderType: Malformation syndrome
Name: Familial thoracic aortic aneurysm and aortic dissection
OrphaCode: 91387
DisorderType: Disease
Name: Neonatal Marfan syndrome
OrphaCode: 284979
DisorderType: Disease
Name: Aneurysm-osteoarthritis syndrome
OrphaCode: 284984
DisorderType: Disease
Name: Familial bicuspid aortic valve
OrphaCode: 402075
DisorderType: Morphological anomaly
Name: Familial aortic dissection
OrphaCode: 229
DisorderType: Disease
Name: Multisystemic smooth muscle dysfunction syndrome
OrphaCode: 404463
DisorderType: Disease