The Unified Medical Language SystemWhat is it and how to use it?Carolyn TilleyCarolyn TilleyJan WillisJan WillisNov. 1, 2004Nov. 1, 2004Part IWhat is the UMLS?(2) Overview through an example12Addison’s diseaseAddison’s diseaseXXAddison's disease is a rare Addison's disease is a rare endocrine disorderendocrine disorderXXAddison's disease occurs Addison's disease occurs when the when the adrenal glandsadrenal glandsdo not produce enough of do not produce enough of the hormone the hormone cortisolcortisolXXFor this reason, the For this reason, the disease is sometimes disease is sometimes calledcalledchronic adrenal chronic adrenal insufficiencyinsufficiency, or , or hypocortisolismhypocortisolism13Adrenal insufficiencyAdrenal insufficiencyClinical variantsClinical variantsXXPrimary / SecondaryPrimary / SecondaryOOPrimary: lesion of the Primary: lesion of the adrenal glands themselvesadrenal glands themselvesOOSecondary: inadequate Secondary: inadequate secretion of ACTH by the secretion of ACTH by the pituitary glandpituitary glandXXAcute / ChronicAcute / ChronicXXIsolated / Isolated / PolyendocrinePolyendocrinedeficiency syndromedeficiency syndromeACTH14Addison’s disease: Addison’s disease: SymptomsSymptomsXXFatigueFatigueXXWeaknessWeaknessXXLow blood pressureLow blood pressureXXPigmentation of the skin (exposed and nonPigmentation of the skin (exposed and non--exposed parts of the body)exposed parts of the body)XX……15AD in medical vocabulariesAD in medical vocabulariesXXSynonyms:Synonyms:different termsdifferent termsOOAddisonianAddisoniansyndromesyndromeOOBronzed diseaseBronzed diseaseOOAddisonAddisonmelanodermamelanodermaOOAstheniaAstheniapigmentosapigmentosaOOPrimary adrenal deficiencyPrimary adrenal deficiencyOOPrimary adrenal insufficiencyPrimary adrenal insufficiencyOOPrimary adrenocortical insufficiencyPrimary adrenocortical insufficiencyOOChronic adrenocortical insufficiencyChronic adrenocortical insufficiencyXXContexts:Contexts:different hierarchiesdifferent hierarchiessymptomsclinicalvariantseponym16Organize termsOrganize termsXXSynonymous terms clustered into a conceptSynonymous terms clustered into a conceptXXPreferred termPreferred termXXUnique identifier (CUI)Unique identifier (CUI)Adrenal Gland DiseasesAdrenal gland diseases MeSH D000307Adrenal disorder AOD 0000005418Disorder of adrenal gland Read C15z.Diseases of the adrenal glands SNOMED DB-70000C0001621Diseases of the endocrine systemDiseases of the Adrenal GlandsAddison’s DiseaseDiseases/DiagnosesSNOMED InternationalEndocrine DiseasesAdrenal Gland DiseasesAddison’s DiseaseDiseasesMeSHAdrenal Gland HypofunctionEndocrine disorderAdrenal disorderAdrenal cortical disorderAdrenal cortical hypofunctionAddison’s DiseaseAODEndocrine disorderDisorder of adrenal glandHypoadrenalismAdrenal HypofunctionCorticoadrenal insufficiencyAddison’s DiseaseRead CodesPrimary adrenocortical insufficiencyOther disorders ofadrenal glandDisorders of otherendocrine glandICD-1022Organize conceptsOrganize conceptsXXInterInter--conceptconceptrelationships: hierarchies relationships: hierarchies from the source from the source vocabulariesvocabulariesXXRedundancy: multiple Redundancy: multiple pathspathsXXOneOnegraphgraphinstead of instead of multiplemultipletreestrees(multiple inheritance)(multiple inheritance)AB D E H D EBG HE F HCB CAE FDG HAdrenal Cortex DiseasesHypoadrenalismAdrenal Gland HypofunctionAdrenal cortical hypofunctionEndocrine DiseasesAdrenal Gland Diseasesorganize conceptsAddison’s DiseaseUMLSSNOMEDMeSHAODRead Codes24Relate to other conceptsRelate to other conceptsXXAdditional hierarchical relationshipsAdditional hierarchical relationshipsOOlink to other treeslink to other treesOOmake relationships explicitmake relationships explicitXXNonNon--hierarchical relationshipshierarchical relationshipsXXCoCo--occurring conceptsoccurring conceptsXXMapping relationshipsMapping relationshipsEndocrine DiseasesAdrenal Gland DiseasesAdrenal Cortex DiseasesHypoadrenalismAdrenal Gland HypofunctionAdrenal cortical hypofunctionAddison’s DiseaseAdrenal Cortex DysfunctionAdrenal DysfunctionAddison’s disease due to autoimmunitySecondary hypocortisolismOther disorders ofadrenal glandDisorders of otherendocrine glandAdrenal GlandsAdrenal CortexEndocrine SystemEndocrine GlandsAbdominal organ Diseasesrelate to other concepts26Categorize conceptsCategorize conceptsXXHighHigh--level categories level categories (semantic types)(semantic types)XXAssigned by the Assigned by the Metathesaurus editorsMetathesaurus editorsXXIndependently of the Independently of the hierarchies in which these hierarchies in which these concepts are locatedconcepts are locatedDisease or SyndromeEndocrine DiseasesAdrenal Gland DiseasesAddison’s DiseaseDiseasesAdrenal Gland