{"orpha":98415,"name":"Vitamin B12- and folate-independent constitutional megaloblastic 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-98415/","orphanet_url":"https://www.orpha.net/en/disease/detail/98415","names":{"fr":{"name":"Anémie mégaloblastique constitutionnelle indépendante de la vitamine B12 ou du folate"},"de":{"name":"Anämie, megaloblastische, Vitamin B12- und Folat-unabhängig"},"es":{"name":"Anemia megaloblástica constitucional independiente de la vitamina B12 o del folato"},"it":{"name":"Anemia megaloblastica costituzionale vitamina B12- e folati-indipendente"},"nl":{"name":"Vitamine B12- en folaatonafhankelijke constitutionele megaloblastische anemie"},"pt":{"name":"Anemia megaloblástica independente de vitamina B12 e de folato"},"pl":{"name":"Niedokrwistość megaloblastyczna konstytucjonalna zależna od witaminy B12 i kwasu foliowego"},"cs":{"name":"Konstituční megaloblastická anémie nezávislá na vitaminu B12 a folátech"},"uk":{"name":"Вітамін В12- та фолат-незалежна конституціональна мегалобластна анемія"},"zh":{"name":"维他命B12和叶酸代谢紊乱原发性巨幼细胞贫血"},"tr":{"name":"B12 vitamini ve folattan bağımsız yapısal megaloblastik anemi"}},"xrefs":[{"source":"ICD-11","code":"3A03.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"968262607"},{"source":"MONDO","code":"0020112","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681710","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":248296,"name":"Constitutional deficiency anemia","classifications":[156,194]}],"children":[{"orpha":30,"name":"Hereditary orotic aciduria","type":"Disease"},{"orpha":206428,"name":"Hypoxanthine-guanine phosphoribosyltransferase deficiency","type":"Clinical group"},{"orpha":49827,"name":"Thiamine-responsive megaloblastic anemia syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}