{"orpha":294971,"name":"Isolated tetra-amelia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated total amelia"],"definition":"A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294971/","orphanet_url":"https://www.orpha.net/en/disease/detail/294971","names":{"fr":{"name":"Tétra-amélie isolée","synonyms":["Amélie complète isolée"],"definition":"Anomalie réductionnelle des membres non syndromique rare, caractérisée par l'absence complète ou partielle des quatre membres. D'autres malformations peuvent parfois être associées."},"de":{"name":"Tetraamelie, isolierte","synonyms":["Amelie, isolierte totale"],"definition":"Ein seltener, nicht-syndromaler Gliedmaßenreduktionsdefekt, der durch das teilweise oder vollständige Fehlen aller vier Gliedmaßen gekennzeichnet ist. In einigen Fällen können weitere Fehlbildungen assoziiert sein."},"es":{"name":"Tetra-amelia aislada","synonyms":["Amelia total aislada"],"definition":"Es un defecto no sindrómico y poco frecuente de reducción de las extremidades caracterizado por la ausencia parcial o total de las mismas. En ocasiones puede asociar otras malformaciones."},"it":{"name":"Tetra-amelia isolata","synonyms":["Amelia totale isolata"],"definition":"È un difetto non sindromico raro da riduzione degli arti, caratterizzato dall'aplasia parziale o completa dei quattro arti. Può associarsi ad altri difetti."},"nl":{"name":"Geïsoleerde tetra-amelie","synonyms":["Geïsoleerde totale amelie"],"definition":"Een zeldzaam, niet-syndromaal ledemaatreductiedefect gekarakteriseerd door partiële of volledige afwezigheid van alle vier de ledematen. Soms kunnen andere malformaties geassocieerd zijn."},"pt":{"name":"Tetra-amelia isolada","synonyms":["Amelia total isolada"]},"pl":{"name":"Izolowany brak wszystkich kończyn","synonyms":["Całkowity brak kończyn"]},"cs":{"name":"Tetraamelie","synonyms":["Totální amelie"]},"uk":{"name":"Ізольована тетраамелія","synonyms":["Ізольована тотальна амелія"],"definition":"A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated."},"zh":{"name":"四肢残缺","synonyms":["全无肢"],"definition":"一种罕见的非综合征性肢体复位缺陷，特征是四肢部分或完全缺如。有时可伴其他畸形。"},"tr":{"name":"Tetra-ameli","synonyms":["Total amelia"]}},"xrefs":[{"source":"ICD-10","code":"Q73.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB9B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1245444478"},{"source":"MONDO","code":"0017439","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536498","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925028","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294925,"name":"Non-syndromic amelia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}