{"id":"http://purl.bioontology.org/ontology/SCTSPA/716745004","prefLabel":"síndrome de livedo reticularis y accidente cerebrovascular","synonym":["síndrome de livedo reticularis y accidente cerebrovascular (trastorno)","livedo racemosa y accidente cerebrovascular","síndrome de Ehrmann Sneddon"],"notation":"716745004","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0282492"],"definition":["Una vasculopatía trombótica no inflamatoria rara que afecta en forma predominante a las mujeres adultas jóvenes. La livedo racemosa es una alteración de la coloración cutánea moteada persistente, de color violáceo-cianótico, de aspecto semejante a una red, que se exacerba por el frío o el embarazo. Las manifestaciones neurológicas incluyen ataques isquémicos transitorios recurrentes e infartos. Aunque alrededor de 50% de los casos son idiopáticos, la enfermedad puede asociarse con enfermedades autoinmunitarias como lupus eritematoso sistémico y síndrome antifosfolipídico. Los factores genéticos pueden desempeñar un papel en la patogenia. Se hallaron mutaciones de pérdida de la función en la región cromosómica candidata al síndrome de ojos de gato 1 CECR1 (22q11.2) que codifica la adenosina desaminasa 2. La mayoría de los casos son esporádicos pero se informaron algunos casos familiares con herencia autosómica dominante."],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/62914000","http://purl.bioontology.org/ontology/SCTSPA/238772004"],"parents":[{"id":"http://purl.bioontology.org/ontology/SCTSPA/62914000","prefLabel":"enfermedad cerebrovascular","synonym":["enfermedad cerebrovascular (trastorno)"],"notation":"62914000","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0007820"],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/49601007"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/SCTSPA/62914000","@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%2F62914000","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F62914000/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F62914000/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F62914000/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F62914000/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F62914000/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F62914000/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F62914000/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F62914000/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F62914000","@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/238772004","prefLabel":"livedo reticularis","synonym":["livedo reticularis (trastorno)"],"notation":"238772004","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0085642"],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/11263005"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/SCTSPA/238772004","@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%2F238772004","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F238772004/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F238772004/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F238772004/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F238772004/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F238772004/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F238772004/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F238772004/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F238772004/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F238772004","@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://purl.bioontology.org/ontology/SCTSPA/EFFECTIVE_TIME":["20160731"],"https://data.bioontology.org/metadata/def/prefLabel":["716745004"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/SCTSPA/TYPE_ID":["900000000000003001","900000000000013009"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0282492"],"http://purl.bioontology.org/ontology/SCTSPA/DEFINITION_STATUS_ID":["900000000000074008"],"http://purl.bioontology.org/ontology/SCTSPA/CASE_SIGNIFICANCE_ID":["900000000000448009","900000000000017005"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://www.w3.org/2004/02/skos/core#prefLabel":["síndrome de livedo reticularis y accidente cerebrovascular"],"http://www.w3.org/2004/02/skos/core#altLabel":["síndrome de livedo reticularis y accidente cerebrovascular (trastorno)","livedo racemosa y accidente cerebrovascular","síndrome de Ehrmann Sneddon"],"http://www.w3.org/2004/02/skos/core#notation":["716745004"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://purl.bioontology.org/ontology/SCTSPA/MODULE_ID":["450829007"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/62914000","http://purl.bioontology.org/ontology/SCTSPA/238772004"],"http://purl.bioontology.org/ontology/SCTSPA/has_finding_site":["http://purl.bioontology.org/ontology/SCTSPA/397018003","http://purl.bioontology.org/ontology/SCTSPA/28661005"],"http://purl.bioontology.org/ontology/SCTSPA/SUBSET_MEMBER":["450828004~ACCEPTABILITYID~900000000000549004","450828004~ACCEPTABILITYID~900000000000548007"],"http://www.w3.org/2004/02/skos/core#definition":["Una vasculopatía trombótica no inflamatoria rara que afecta en forma predominante a las mujeres adultas jóvenes. La livedo racemosa es una alteración de la coloración cutánea moteada persistente, de color violáceo-cianótico, de aspecto semejante a una red, que se exacerba por el frío o el embarazo. Las manifestaciones neurológicas incluyen ataques isquémicos transitorios recurrentes e infartos. Aunque alrededor de 50% de los casos son idiopáticos, la enfermedad puede asociarse con enfermedades autoinmunitarias como lupus eritematoso sistémico y síndrome antifosfolipídico. Los factores genéticos pueden desempeñar un papel en la patogenia. Se hallaron mutaciones de pérdida de la función en la región cromosómica candidata al síndrome de ojos de gato 1 CECR1 (22q11.2) que codifica la adenosina desaminasa 2. La mayoría de los casos son esporádicos pero se informaron algunos casos familiares con herencia autosómica dominante."],"http://purl.bioontology.org/ontology/SCTSPA/ACTIVE":["1"]},"@id":"http://purl.bioontology.org/ontology/SCTSPA/716745004","@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%2F716745004","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F716745004/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F716745004/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F716745004/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F716745004/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F716745004/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F716745004/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F716745004/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F716745004/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F716745004","@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:0x00007f8911cfd158 /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":[]}}