{"id":"http://purl.bioontology.org/ontology/SNOMEDCT/410053003","synonym":["Clinical manifestation of enzyme deficiency (disorder)"],"notation":"410053003","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1444206"],"prefLabel":"Clinical manifestation of enzyme deficiency","subClassOf":["http://purl.bioontology.org/ontology/SNOMEDCT/75934005"],"parents":[{"id":"http://purl.bioontology.org/ontology/SNOMEDCT/75934005","synonym":["Metabolic disorder","MD - Metabolic disorders","Metabolic disease (disorder)"],"notation":"75934005","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0025517"],"prefLabel":"Metabolic disease","subClassOf":["http://purl.bioontology.org/ontology/SNOMEDCT/64572001"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/SNOMEDCT/75934005","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F75934005","ontology":"https://data.bioontology.org/ontologies/SNOMEDCT","children":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F75934005/children","parents":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F75934005/parents","descendants":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F75934005/descendants","ancestors":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F75934005/ancestors","instances":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F75934005/instances","tree":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F75934005/tree","notes":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F75934005/notes","mappings":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F75934005/mappings","ui":"http://bioportal.bioontology.org/ontologies/SNOMEDCT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F75934005","@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":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://purl.bioontology.org/ontology/SNOMEDCT/TYPE_ID":["900000000000003001","900000000000013009"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/SNOMEDCT/EFFECTIVE_TIME":["20040731"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1444206"],"http://purl.bioontology.org/ontology/SNOMEDCT/CTV3ID":["XUbRE"],"http://purl.bioontology.org/ontology/SNOMEDCT/DEFINITION_STATUS_ID":["900000000000074008"],"http://purl.bioontology.org/ontology/SNOMEDCT/CASE_SIGNIFICANCE_ID":["900000000000448009"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/SNOMEDCT/ACTIVE":["1"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Clinical manifestation of enzyme deficiency"],"http://www.w3.org/2004/02/skos/core#altLabel":["Clinical manifestation of enzyme deficiency (disorder)"],"http://www.w3.org/2004/02/skos/core#notation":["410053003"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/SNOMEDCT/75934005"],"http://purl.bioontology.org/ontology/SNOMEDCT/due_to":["http://purl.bioontology.org/ontology/SNOMEDCT/78548001"],"http://purl.bioontology.org/ontology/SNOMEDCT/SUBSET_MEMBER":["447562003~MAPRULE~TRUE","6011000124106~MAPRULE~IFA 410052008 &#x7C; Carnosinemia &#x7C;","6011000124106~MAPRULE~IFA 314467007 &#x7C; Gyrate atrophy (disorder) &#x7C;","6011000124106~MAPADVICE~IF CLINICAL MANIFESTATION OF CARNOSINASE DEFICIENCY CHOOSE E70.89 &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","6011000124106~MAPPRIORITY~7","6011000124106~MAPPRIORITY~4","6011000124106~MAPRULE~IFA 410058007 &#x7C; Histidinemia &#x7C;","6011000124106~MAPADVICE~IF CLINICAL MANIFESTATION OF CARNOSINASE DEFICIENCY CHOOSE E70.8 &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","6011000124106~MAPADVICE~IF HYPERIMIDODIPEPTIDURIA DUE TO PROLINE DIPEPTIDASE DEFICIENCY CHOOSE E88.89 &#x7C; CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","6011000124106~MAPGROUP~1","6011000124106~MAPTARGET~E70.89","447562003~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA","6011000124106~MAPRULE~IFA 410051001 &#x7C; Carnosinuria &#x7C;","6011000124106~MAPPRIORITY~8","6011000124106~MAPADVICE~IF CARNOSINURIA CHOOSE E70.89 &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","6011000124106~MAPADVICE~IF HYPERIMIDODIPEPTIDURIA CHOOSE E88.89 &#x7C; CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","6011000124106~MAPTARGET~E71.19","6011000124106~MAPRULE~IFA 410055005 &#x7C; Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder) &#x7C;","447562003~MAPGROUP~1","6011000124106~MAPTARGET~H31.23","6011000124106~MAPTARGET~E70.41","6011000124106~MAPRULE~IFA 410050000 &#x7C; Clinical manifestation of carnosinase deficiency (disorder) &#x7C;","447562003~CORRELATIONID~447561005","6011000124106~MAPTARGET~E70.8","6011000124106~MAPADVICE~IF TYROSINEMIA TYPE I CHOOSE E70.21 &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","6011000124106~MAPCATEGORYID~447637006","900000000000509007~ACCEPTABILITYID~900000000000548007","6011000124106~MAPADVICE~IF HYDROXYMETHYLGLUTARIC ACIDURIA CHOOSE E71.19 &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","900000000000508004~ACCEPTABILITYID~900000000000548007","6011000124106~MAPADVICE~ALWAYS E88.9 &#x7C; CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE","447562003~MAPTARGET~","447562003~MAPPRIORITY~1","6011000124106~MAPRULE~IFA 410058007 &#x7C; Histidinemia (disorder) &#x7C;","6011000124106~MAPRULE~IFA 410056006 &#x7C; Tyrosinemia type 1 &#x7C;","6011000124106~MAPRULE~OTHERWISE TRUE","6011000124106~MAPPRIORITY~5","6011000124106~MAPRULE~IFA 314467007 &#x7C; Gyrate atrophy &#x7C;","6011000124106~MAPPRIORITY~9","6011000124106~MAPRULE~IFA 410055005 &#x7C; Hyperimidodipeptiduria &#x7C;","6011000124106~MAPCATEGORYID~447639009","6011000124106~MAPADVICE~IF TYROSINEMIA TYPE 1 CHOOSE E70.21 &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","6011000124106~MAPTARGET~E88.9","6011000124106~MAPPRIORITY~1","6011000124106~MAPADVICE~IF GYRATE ATROPHY CHOOSE H31.23 &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","6011000124106~MAPPRIORITY~6","6011000124106~CORRELATIONID~447561005","6011000124106~MAPRULE~IFA 410056006 &#x7C; Tyrosinemia type I (disorder) &#x7C;","6011000124106~MAPTARGET~E88.89","6011000124106~MAPRULE~IFA 410059004 &#x7C; Hydroxymethylglutaric aciduria &#x7C;","6011000124106~MAPTARGET~E70.21","6011000124106~MAPPRIORITY~3","6011000124106~MAPRULE~IFA 410059004 &#x7C; Hydroxymethylglutaric aciduria (disorder) &#x7C;","6011000124106~MAPRULE~IFA 410056006 &#x7C; Tyrosinemia type I &#x7C;","6011000124106~MAPPRIORITY~2","6011000124106~MAPADVICE~IF CARNOSINEMIA CHOOSE E70.89 &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","900000000000497000~MAPTARGET~XUbRE","6011000124106~MAPADVICE~IF HISTIDINEMIA CHOOSE E70.41 &#x7C; MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT","447562003~MAPCATEGORYID~447638001","6011000124106~MAPRULE~IFA 410050000 &#x7C; Clinical manifestation of carnosinase deficiency &#x7C;"]},"@id":"http://purl.bioontology.org/ontology/SNOMEDCT/410053003","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F410053003","ontology":"https://data.bioontology.org/ontologies/SNOMEDCT","children":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F410053003/children","parents":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F410053003/parents","descendants":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F410053003/descendants","ancestors":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F410053003/ancestors","instances":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F410053003/instances","tree":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F410053003/tree","notes":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F410053003/notes","mappings":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F410053003/mappings","ui":"http://bioportal.bioontology.org/ontologies/SNOMEDCT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F410053003","@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:0x00007f5be471fc18 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-4e1a2c81a965/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":[]}}