{"id":"http://purl.bioontology.org/ontology/SCTSPA/725049005","prefLabel":"fibromatosis agresiva","synonym":["fibromatosis agresiva (trastorno)","fibromatosis profunda"],"notation":"725049005","semanticType":["http://purl.bioontology.org/ontology/STY/T191"],"cui":["C0079218"],"definition":["Los tumores desmoides pueden producirse en cualquier parte del cuerpo: extraabdominales (cuello, hombros, miembros superiores, región glútea), abdominales (originados en la fascia muscular o en la pared abdominal/torácica) y más raramente, intraabdominales, en el mesenterio o el retroperitoneo. Según la localización del tumor, los síntomas pueden incluir dolor, fiebre y alteración funcional o pérdida de la función del órgano afectado. Los tumores desmoides son el resultado de la proliferación de miofibroblastos bien diferenciados. Aún se desconoce el mecanismo etiopatogénico exacto, pero tendrían un origen multifuncional con participación de factores hormonales y genéticos. Se hallaron mutaciones somáticas en el gen CTNNB1 (3q21) que codifica a la beta-catenina en alrededor de 85% de los casos esporádicos."],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/94805002","http://purl.bioontology.org/ontology/SCTSPA/723976005"],"parents":[{"id":"http://purl.bioontology.org/ontology/SCTSPA/94805002","prefLabel":"neoplasia de comportamiento incierto de partes blandas","synonym":["neoplasia de comportamiento incierto de partes blandas (trastorno)"],"notation":"94805002","semanticType":["http://purl.bioontology.org/ontology/STY/T191"],"cui":["C0154125"],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/387837005","http://purl.bioontology.org/ontology/SCTSPA/118616009"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/SCTSPA/94805002","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F94805002","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F94805002/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F94805002/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F94805002/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F94805002/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F94805002/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F94805002/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F94805002/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F94805002/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F94805002","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}},{"id":"http://purl.bioontology.org/ontology/SCTSPA/723976005","prefLabel":"fibromatosis","synonym":["fibromatosis (trastorno)"],"notation":"723976005","semanticType":["http://purl.bioontology.org/ontology/STY/T191"],"cui":["C0016048"],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/64572001"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/SCTSPA/723976005","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F723976005","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F723976005/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F723976005/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F723976005/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F723976005/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F723976005/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F723976005/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F723976005/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F723976005/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F723976005","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}],"label":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"prefLabelXl":[],"isInActiveScheme":[],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#notation":["725049005"],"http://purl.bioontology.org/ontology/SCTSPA/DEFINITION_STATUS_ID":["900000000000073002"],"http://purl.bioontology.org/ontology/SCTSPA/EFFECTIVE_TIME":["20170731"],"http://purl.bioontology.org/ontology/SCTSPA/ACTIVE":["1"],"http://www.w3.org/2004/02/skos/core#altLabel":["fibromatosis agresiva (trastorno)","fibromatosis profunda"],"http://purl.bioontology.org/ontology/SCTSPA/SUBSET_MEMBER":["450828004~ACCEPTABILITYID~900000000000549004","450828004~ACCEPTABILITYID~900000000000548007"],"http://www.w3.org/2004/02/skos/core#prefLabel":["fibromatosis agresiva"],"http://purl.bioontology.org/ontology/SCTSPA/TYPE_ID":["900000000000003001","900000000000013009"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/94805002","http://purl.bioontology.org/ontology/SCTSPA/723976005"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T191"],"http://purl.bioontology.org/ontology/SCTSPA/has_finding_site":["http://purl.bioontology.org/ontology/SCTSPA/87784001"],"http://www.w3.org/2004/02/skos/core#definition":["Los tumores desmoides pueden producirse en cualquier parte del cuerpo: extraabdominales (cuello, hombros, miembros superiores, región glútea), abdominales (originados en la fascia muscular o en la pared abdominal/torácica) y más raramente, intraabdominales, en el mesenterio o el retroperitoneo. Según la localización del tumor, los síntomas pueden incluir dolor, fiebre y alteración funcional o pérdida de la función del órgano afectado. Los tumores desmoides son el resultado de la proliferación de miofibroblastos bien diferenciados. Aún se desconoce el mecanismo etiopatogénico exacto, pero tendrían un origen multifuncional con participación de factores hormonales y genéticos. Se hallaron mutaciones somáticas en el gen CTNNB1 (3q21) que codifica a la beta-catenina en alrededor de 85% de los casos esporádicos."],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"https://data.bioontology.org/metadata/def/prefLabel":["725049005"],"http://purl.bioontology.org/ontology/SCTSPA/MODULE_ID":["450829007"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T191"],"http://purl.bioontology.org/ontology/SCTSPA/has_associated_morphology":["http://purl.bioontology.org/ontology/SCTSPA/47284001"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0079218"],"http://purl.bioontology.org/ontology/SCTSPA/CASE_SIGNIFICANCE_ID":["900000000000448009"]},"@id":"http://purl.bioontology.org/ontology/SCTSPA/725049005","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F725049005","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F725049005/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F725049005/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F725049005/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F725049005/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F725049005/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F725049005/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F725049005/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F725049005/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F725049005","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","parents":"http://www.w3.org/2000/01/rdf-schema##<Proc:0x00007fb3b17ff1b8 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-daf04082c829/lib/ontologies_linked_data/models/class.rb:67 (lambda)>","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}