{"orpha":90002,"name":"Undifferentiated connective tissue syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["UCTD"],"definition":"A rare systemic autoimmune disease characterized by the presence of signs and symptoms suggestive of a systemic autoimmune disease that do not fulfil the existing classification criteria. The main clinical manifestations are arthritis with arthralgia, Raynaud's phenomenon, xerostomia, xerophthalmia, and leukopenia, while neurologic or renal involvement are virtually absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90002/","orphanet_url":"https://www.orpha.net/en/disease/detail/90002","names":{"fr":{"name":"Connectivite indifférenciée","definition":"Maladie systémique rare caractérisée par la présence de signes et de symptômes évocateurs d'une maladie auto-immune systémique qui ne répondent pas aux critères de classification existants. Les principaux signes cliniques sont l'arthrite avec une arthralgie, le phénomène de Raynaud, la xérostomie, la xérophtalmie et la leucopénie, et la quasi-absence d'atteintes neurologiques ou rénales."},"de":{"name":"Undifferenzierte Kollagenosen","synonyms":["UCTD"],"definition":"Eine seltene systemische Autoimmunerkrankung, die durch das Vorhandensein von Anzeichen und Symptomen gekennzeichnet ist, die auf eine systemische Autoimmunerkrankung hindeuten, aber nicht den bestehenden Klassifikationskriterien entsprechen. Die wichtigsten klinischen Manifestationen sind Arthritis mit Arthralgien, Raynaud-Phänomen, Xerostomie, Xerophthalmie und Leukopenie, während eine neurologische oder renale Beteiligung praktisch fehlt."},"es":{"name":"Enfermedad indiferenciada del tejido conectivo","synonyms":["Enfermedad del tejido conectivo no diferenciada","Síndrome del tejido conectivo no diferenciado","Síndrome indiferenciado del tejido conectivo"],"definition":"Es una enfermedad autoinmune sistémica poco frecuente caracterizada por la presencia de signos y síntomas sugestivos de una enfermedad autoinmune sistémica que no cumplen con los criterios de clasificación existentes. Las principales manifestaciones clínicas son artritis con artralgia, fenómeno de Raynaud, xerostomía, xeroftalmia y leucopenia, mientras que la afectación neurológica o renal está prácticamente ausente."},"it":{"name":"Connettivite indifferenziata","definition":"Si tratta di una malattia autoimmune sistemica rara, caratterizzata dai sintomi suggestivi di una malattia autoimmune sistemica che tuttavia non rispondono ai criteri di classificazione esistenti. I principali segni clinici sono l'artrite con artralgia, il fenomeno di Raynaud, la xerostomia, la xeroftalmia e la leucopenia. I pazienti non presentano interessamento neurologico o renale."},"nl":{"name":"Ongedifferentieerd bindweefselsyndroom","synonyms":["UCTD"],"definition":"Een zeldzame systemische auto-immuunziekte, gekarakteriseerd door aanwezigheid van verschijnselen en symptomen die wijzen op een systemische auto-immuunziekte die niet voldoet aan de bestaande classificatiecriteria. De voornaamste klinische manifestaties zijn artritis met artralgie, fenomeen van Raynaud, xerostomie, xeroftalmie, en leukopenie, terwijl neurologische of renale betrokkenheid vrijwel afwezig is."},"pt":{"name":"Síndromes do tecido conjuntivo, indiferenciados"},"pl":{"name":"Zespół niezróżnicowanej tkanki łącznej","synonyms":["UCTD"]},"cs":{"name":"Nediferencovaný syndrom pojiva","synonyms":["UCTD"]},"uk":{"name":"Недиференційований синдром сполучної тканини","synonyms":["UCTD"],"definition":"A rare systemic autoimmune disease characterized by the presence of signs and symptoms suggestive of a systemic autoimmune disease that do not fulfil the existing classification criteria. The main clinical manifestations are arthritis with arthralgia, Raynaud's phenomenon, xerostomia, xerophthalmia, and leukopenia, while neurologic or renal involvement are virtually absent."},"zh":{"name":"未分化结缔组织综合征","synonyms":["UCTD"]},"tr":{"name":"Farklılaşmamış bağ dokusu sendromu","synonyms":["UCTD"]}},"xrefs":[{"source":"ICD-10","code":"M35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019527","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000074079","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0409999","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071575","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":251316,"name":"OBSOLETE: Unclassified overlapping connective tissue disease","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-16","source":null,"terms":[{"hpo":"HP:0034093","label":"Anti-Ro52/TRIM21 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020151","label":"Anti-dsDNA antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034076","label":"Anti-ribosome Po antibody positivity","frequency":"Frequent (79-30%)","criteria":null}]}}