{"orpha":99931,"name":"Idiopathic pulmonary hemosiderosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99931/","orphanet_url":"https://www.orpha.net/en/disease/detail/99931","names":{"fr":{"name":"Hémosidérose pulmonaire idiopathique","definition":"L'hémosidérose pulmonaire idiopathique est une maladie respiratoire due à des épisodes répétés d'hémorragie alvéolaire diffuse sans cause sous-jacente apparente, le plus souvent chez des enfants. Une anémie, une toux et une infiltration pulmonaire révélée par une radiographie du thorax se retrouvent chez la majorité des patients."},"de":{"name":"Lungen-Hämosiderose, idiopathische","definition":"Die Idiopathische Lungen-Hämosiderose ist eine Atemwegserkrankung durch wiederholte Episoden diffuser Einblutungen in die Alveolen ohne erkennbare Ursache. Am häufigsten tritt die Krankheit bei Kindern auf. Bei den meisten Patienten bestehen Anämie, Husten und diffuse parenchymatöse Lungeninfiltrate im Röntgenthorax."},"es":{"name":"Hemosiderosis pulmonar idiopática","definition":"La hemosiderosis pulmonar idiopática es una enfermedad respiratoria debida a episodios repetidos de hemorragia alveolar difusa sin una causa subyacente aparente, y afecta principalmente a niños. La mayoría de pacientes presenta anemia, tos e infiltrados pulmonares en radiografías torácicas."},"it":{"name":"Emosiderosi polmonare idiopatica","definition":"L'emosiderosi polmonare idiopatica è una malattia respiratoria caratterizzata da episodi ricorrenti di emorragia alveolare diffusa, in assenza di una causa apparente. Si manifesta di solito nei bambini. Nella maggior parte dei casi sono presenti anemia, tosse e infiltrati polmonari sulle radiografie del torace."},"nl":{"name":"Idiopathische pulmonale hemosiderose","definition":"Een respiratoire aandoening, te wijten aan herhaaldelijke episodes van diffuse alveolaire hemorragie zonder enige merkbare onderliggende oorzaak, meestal optredend bij kinderen. Anemie, hoest, en pulmonale infiltraten bij radiografie van borstkas worden aangetroffen bij de meerderheid van de patiënten."},"pt":{"name":"Hemossiderose pulmonar, idiopática"},"pl":{"name":"Idiopatyczna hemosyderoza płuc"},"cs":{"name":"Idiopatická plicní hemosideróza"},"uk":{"name":"Ідіопатичний гемосидероз легень","definition":"Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients."},"zh":{"name":"特发性肺含铁血黄素沉积","definition":"特发性肺含铁血黄素沉着症是一种呼吸系统疾病，由反复发作的弥漫性肺泡出血引起，没有任何潜在的明显原因，最常见于儿童。大多数患者存在贫血、咳嗽的临床表现和肺浸润的影像学特征。"},"tr":{"name":"İdiyopatik pulmoner hemosideroz"}},"xrefs":[{"source":"OMIM","code":"178550","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"235500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.1+","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-10","code":"J99.8*","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"CB04.30","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1542272036"},{"source":"MeSH","code":"C536281","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020807","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6763","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":264762,"name":"Primary interstitial lung disease in childhood and adulthood","classifications":[184,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0425,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-28","source":"30278795[PMID] _33246295[PMID] _32644388[PMID]","terms":[{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","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:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","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:0030057","label":"Autoimmune antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030830","label":"Crackles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025420","label":"Diffuse alveolar hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025392","label":"Nodular pattern on pulmonary HRCT","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025390","label":"Reticular pattern on pulmonary HRCT","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003262","label":"Smooth muscle antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100327","label":"Cow milk allergy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Very rare (<4-1%)","criteria":null}]}}