{"id":"http://purl.bioontology.org/ontology/SCTSPA/1172838005","prefLabel":"neuropatía sensitiva autonómica hereditaria tipo 8","synonym":["neuropatía sensitiva autonómica hereditaria tipo 8 (trastorno)"],"notation":"1172838005","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C4225308"],"definition":["Neuropatía autonómica y sensitiva hereditaria poco frecuente caracterizada por una alteración congénita de la sensación de dolor agudo o inflamatorio en combinación con una incapacidad para identificar el calor o el frío nocivos, lo que da lugar a numerosos daños y lesiones mutilantes indoloras. Otras manifestaciones son la ausencia del reflejo corneal que resulta en cicatrices corneales, reducción de la sudoración y lagrimeo e infecciones cutáneas recurrentes. Las modalidades sensitivas de fibras grandes como el tacto ligero, la vibración y la propiocepción son normales."],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/128205005","http://purl.bioontology.org/ontology/SCTSPA/85995004"],"parents":[{"id":"http://purl.bioontology.org/ontology/SCTSPA/128205005","prefLabel":"neuropatía sensitiva y autónoma hereditaria","synonym":["NSAH - neuropatía sensitiva y autonómica hereditaria","neuropatía sensitiva y autónoma hereditaria (trastorno)"],"notation":"128205005","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0027889"],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/722997000","http://purl.bioontology.org/ontology/SCTSPA/65017003","http://purl.bioontology.org/ontology/SCTSPA/386033004"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/SCTSPA/128205005","@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%2F128205005","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F128205005/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F128205005/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F128205005/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F128205005/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F128205005/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F128205005/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F128205005/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F128205005/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F128205005","@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/85995004","prefLabel":"trastorno hereditario autosómico recesivo","synonym":["trastorno hereditario autosómico recesivo (trastorno)","rasgo de trastorno hereditario (autosómico)"],"notation":"85995004","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0265388"],"subClassOf":["http://purl.bioontology.org/ontology/SCTSPA/1899006"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/SCTSPA/85995004","@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%2F85995004","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F85995004/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F85995004/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F85995004/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F85995004/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F85995004/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F85995004/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F85995004/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F85995004/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F85995004","@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":["20210930"],"https://data.bioontology.org/metadata/def/prefLabel":["1172838005"],"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":["C4225308"],"http://purl.bioontology.org/ontology/SCTSPA/DEFINITION_STATUS_ID":["900000000000074008"],"http://purl.bioontology.org/ontology/SCTSPA/CASE_SIGNIFICANCE_ID":["900000000000448009"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://www.w3.org/2004/02/skos/core#prefLabel":["neuropatía sensitiva autonómica hereditaria tipo 8"],"http://www.w3.org/2004/02/skos/core#altLabel":["neuropatía sensitiva autonómica hereditaria tipo 8 (trastorno)"],"http://www.w3.org/2004/02/skos/core#notation":["1172838005"],"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/128205005","http://purl.bioontology.org/ontology/SCTSPA/85995004"],"http://purl.bioontology.org/ontology/SCTSPA/has_finding_site":["http://purl.bioontology.org/ontology/SCTSPA/3058005","http://purl.bioontology.org/ontology/SCTSPA/72167002","http://purl.bioontology.org/ontology/SCTSPA/3057000"],"http://purl.bioontology.org/ontology/SCTSPA/SUBSET_MEMBER":["450828004~ACCEPTABILITYID~900000000000548007"],"http://www.w3.org/2004/02/skos/core#definition":["Neuropatía autonómica y sensitiva hereditaria poco frecuente caracterizada por una alteración congénita de la sensación de dolor agudo o inflamatorio en combinación con una incapacidad para identificar el calor o el frío nocivos, lo que da lugar a numerosos daños y lesiones mutilantes indoloras. Otras manifestaciones son la ausencia del reflejo corneal que resulta en cicatrices corneales, reducción de la sudoración y lagrimeo e infecciones cutáneas recurrentes. Las modalidades sensitivas de fibras grandes como el tacto ligero, la vibración y la propiocepción son normales."],"http://purl.bioontology.org/ontology/SCTSPA/ACTIVE":["1"]},"@id":"http://purl.bioontology.org/ontology/SCTSPA/1172838005","@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%2F1172838005","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F1172838005/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F1172838005/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F1172838005/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F1172838005/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F1172838005/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F1172838005/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F1172838005/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F1172838005/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F1172838005","@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:0x00007f68514d53f8 /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":[]}}