{"orpha":93890,"name":"Rare developmental defect during embryogenesis","type":"Category","group":"Group of disorders","status":"active","flags":["Head of classification"],"synonyms":["Malformation syndrome"],"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-93890/","orphanet_url":"https://www.orpha.net/en/disease/detail/93890","names":{"fr":{"name":"Anomalie rare du développement embryonnaire","synonyms":["Syndrome malformatif"]},"de":{"name":"Seltener Entwicklungsdefekt während der Embryogenese"},"es":{"name":"Defectos raros del desarrollo embrionario"},"it":{"name":"Anomalie dello sviluppo durante l'embriogenesi"},"nl":{"name":"Zeldzame ontwikkelingsstoornis tijdens embryogenese","synonyms":["Malformatiesyndroom"]},"pt":{"name":"Defeito de desenvolvimento durante a embriogenese"},"pl":{"name":"Rzadkie zaburzenia rozwoju podczas embriogenezy","synonyms":["Zespół malformacji"]},"cs":{"name":"Vzácné poruchy vývoje v průběhu embryogeneze","synonyms":["Malformační syndromy"]},"uk":{"name":"Рідкісна вада розвитку під час ембріогенезу","synonyms":["Синдром мальформації"]},"zh":{"name":"罕见胚胎发育缺陷","synonyms":["畸形综合征"]},"tr":{"name":"Embriyojenez sırasında nadir görülen gelişimsel defekt","synonyms":["Malformasyon sendromu"]}},"xrefs":[{"source":"UMLS","code":"C5680284","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2161,"name":"OBSOLETE: Holoacardius amorphus","status":"inactive"},{"type":"Referred to","orpha":3160,"name":"OBSOLETE: Vascular disruption sequence","status":"inactive"},{"type":"Referred to","orpha":139006,"name":"OBSOLETE: Sequence or association","status":"inactive"}],"preferential_parent":null,"parents":[],"children":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","type":"Category"},{"orpha":98044,"name":"Central nervous system malformation","type":"Category"},{"orpha":730421,"name":"Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder","type":"Disease"},{"orpha":68378,"name":"Congenital limb malformation","type":"Category"},{"orpha":647916,"name":"Conjoined twins","type":"Malformation syndrome"},{"orpha":98038,"name":"Cranial malformation","type":"Category"},{"orpha":139009,"name":"Developmental anomaly of metabolic origin","type":"Category"},{"orpha":98553,"name":"Developmental defect of the eye","type":"Category"},{"orpha":98043,"name":"Diaphragmatic or abdominal wall malformation","type":"Category"},{"orpha":90771,"name":"Difference of sex development","type":"Category"},{"orpha":98039,"name":"Digestive tract malformation","type":"Category"},{"orpha":728725,"name":"Fetus in fetu","type":"Disease"},{"orpha":1041,"name":"Hydrops fetalis","type":"Malformation syndrome"},{"orpha":98196,"name":"Malformation syndrome with hamartosis","type":"Category"},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","type":"Category"},{"orpha":139021,"name":"Malformation syndrome with short stature","type":"Category"},{"orpha":68341,"name":"Multiple congenital anomalies/dysmorphic syndrome","type":"Category"},{"orpha":139024,"name":"Overgrowth/obesity syndrome","type":"Category"},{"orpha":139033,"name":"Progeroid syndrome","type":"Category"},{"orpha":139012,"name":"Rare bone development disorder","type":"Category"},{"orpha":68335,"name":"Rare chromosomal anomaly","type":"Category"},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","type":"Category"},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","type":"Category"},{"orpha":155832,"name":"Rare head and neck malformation","type":"Category"},{"orpha":97965,"name":"Rare surgical cardiac disease","type":"Category"},{"orpha":90642,"name":"Rare syndromic genetic deafness","type":"Category"},{"orpha":52662,"name":"Rare teratologic disease","type":"Category"},{"orpha":68419,"name":"Rare vascular anomaly","type":"Category"},{"orpha":93545,"name":"Renal or urinary tract malformation","type":"Category"},{"orpha":98045,"name":"Respiratory or mediastinal malformation","type":"Category"},{"orpha":83001,"name":"Urogenital tract malformation","type":"Category"},{"orpha":98041,"name":"Visceral malformation of the liver, biliary tract, pancreas or spleen","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"France","status":"Validated","source":"22939647[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.42,"area":"France","status":"Validated","source":"22939647[PMID]"}],"phenotypes":null}