{"orpha":90060,"name":"Diffuse alveolar hemorrhage","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare clinical situation for which there is a European and/or American orphan designation. Characteristics include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90060/","orphanet_url":"https://www.orpha.net/en/disease/detail/90060","names":{"fr":{"name":"Hémorragie alvéolaire diffuse","definition":"Situation clinique rare pour laquelle une désignation européenne et/ou américaine orpheline existe. Les caractéristiques sont une hémorragie diffuse dans les espaces alvéolaires, qui prend son origine dans la microvasculature pulmonaire (capillaires alvéolaires, artérioles et veinules). Les patients présentent toux, dyspnée, douleurs thoraciques, fièvre, anémie et hémoptysie."},"de":{"name":"Hämorrhagie, alveoläre diffuse","definition":"Seltene klinische Situation, für die eine europäische und/oder US-amerikanische Orphan Designation vorliegt. Charakteristisch ist eine diffuse Blutung in den Alveolarräumen, die ihren Ursprung in der Mikrovaskulatur der Lunge (Alveolarkapillaren, Arteriolen und Venolen) hat. Die Patienten leiden unter Husten, Dyspnoe, Brustschmerzen, Fieber, Anämie und Hämoptysen."},"es":{"name":"Hemorragia alveolar difusa","definition":"Es una enfermedad poco frecuente catalogada como enfermedad huérfana en los registros europeos y estadounidense. Los hallazgos incluyen sangrado difuso en los espacios alveolares, que se origina en la microvasculatura pulmonar, incluyendo los capilares alveolares, las arteriolas y las vénulas. Los pacientes presentan tos, disnea, dolor torácico, fiebre, anemia y hemoptisis."},"it":{"name":"Emorragia alveolare diffusa","definition":"Si tratta di una condizione clinica rara per la quale esiste una designazione orfana europea e/o americana. È caratterizzata da emorragia diffusa negli spazi alveolari, che origina dalla microvascolatura polmonare, compresi i capillari, le arteriole e le venule alveolari. I pazienti presentano tosse, dispnea, dolore toracico, febbre, anemia ed emottisi."},"nl":{"name":"Diffuse alveolaire hemorragie","definition":"Een zeldzame klinische situatie waarvoor een Europese en/of Amerikaanse aanduiding als weesziekte bestaat. Kenmerken zijn onder meer diffuse bloeding in de alveolaire ruimten die hun oorsprong vinden in de pulmonale microvasculatuur, waaronder de alveolaire capillairen, arteriolen en venulen. Patiënten presenteren zich met hoest, dyspneu, thoracale pijn, koorts, anemie en hemoptoë."},"pt":{"name":"Hemorragia alveolar difusa"},"pl":{"name":"Rozlane krwawienie pęcherzykowe"},"cs":{"name":"Difuzní alveolární hemoragie"},"uk":{"name":"Дифузний альвеолярний крововилив","definition":"A rare clinical situation for which there is a European and/or American orphan designation. Characteristics include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis."},"zh":{"name":"弥漫性肺泡出血"},"tr":{"name":"Yaygın alveolar kanama"}},"xrefs":[{"source":"ICD-10","code":"R04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MD23","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2008581556"},{"source":"MONDO","code":"0019540","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4476767","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-12","source":"28732837[PMID]_20442117[PMID]_24791616[PMID]_22963805[PMID]","terms":[{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025179","label":"Ground-glass opacification on pulmonary HRCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000152","label":"Abnormality of head or neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003453","label":"Antineutrophil antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003613","label":"Antiphospholipid antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005421","label":"Decreased circulating complement C3 concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045042","label":"Decreased circulating complement C4 concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045050","label":"Increased DLCO","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025174","label":"Irregular septal thickening on pulmonary HRCT","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030950","label":"Pulmonary venous hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Very rare (<4-1%)","criteria":null}]}}