{"orpha":98362,"name":"Constitutional sideroblastic anemia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-98362/","orphanet_url":"https://www.orpha.net/en/disease/detail/98362","names":{"fr":{"name":"Anémie sidéroblastique constitutionnelle"},"de":{"name":"Anämie, konstitutionelle sideroblastische"},"es":{"name":"Anemia sideroblástica constitucional"},"it":{"name":"Anemia sideroblastica costituzionale"},"nl":{"name":"Constitutionele sideroblastische anemie"},"pt":{"name":"Anemia sideroblástica genética"},"pl":{"name":"Niedokrwistość sideroblastyczna konstytucjonalna"},"cs":{"name":"Konstituční sideroblastické anémie"},"uk":{"name":"Конституційна сидеробластна анемія"},"zh":{"name":"原发性铁粒幼细胞性贫血"},"tr":{"name":"Yapısal sideroblastik anemi"}},"xrefs":[{"source":"ICD-10","code":"D64.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3A72.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"789053868"},{"source":"UMLS","code":"C0221018","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":183651,"name":"Rare constitutional anemia","classifications":[156]},{"orpha":1047,"name":"Sideroblastic anemia","classifications":[194]}],"children":[{"orpha":255132,"name":"Adult-onset autosomal recessive sideroblastic anemia","type":"Disease"},{"orpha":260305,"name":"Autosomal recessive sideroblastic anemia","type":"Disease"},{"orpha":369861,"name":"Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome","type":"Disease"},{"orpha":2598,"name":"Mitochondrial myopathy and sideroblastic anemia","type":"Disease"},{"orpha":699,"name":"Pearson syndrome","type":"Disease"},{"orpha":300298,"name":"Severe congenital hypochromic anemia with ringed sideroblasts","type":"Disease"},{"orpha":49827,"name":"Thiamine-responsive megaloblastic anemia syndrome","type":"Disease"},{"orpha":75563,"name":"X-linked sideroblastic anemia","type":"Disease"},{"orpha":2802,"name":"X-linked sideroblastic anemia and spinocerebellar ataxia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}