These notes are for BINF 4003 - Methods III: Symbolic Methods, taught in the Fall of 2020 at Columbia University.
Overview
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Introduction: What are symbolic methods? Data-Information-Knowledge hierarchy, interoperability, “curly braces problem”.
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Knowledge representation: Medical knowledge representations, closed vs open world assumptions, reference vs interface terminologies, pre- vs post-coordination.
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Desiderata for medical vocabularies: Characteristics of high-quality controlled medical vocabularies.
Specific terminologies and tools
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ICD: Design, structure, limitations, adoption, versions: ICD-9, ICD-10, clinical modification.
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SNOMED: Design, structure, limitations, adoption, SNOMED clinical terms (SNOMED CT).
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RxNorm: Design, structure, data sources, use cases. RxNorm vs RxTerm.
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LOINC: Design, purpose, structure
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HPO: Human Phenotype Ontology
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UMLS: Three knowledge sources: Metathesaurus, Semantic Network, SPECIALIST Lexicon and Lexical Tools. Purpose, data sources, use cases.
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Concept mapping: MetaMap, Usagi, BioAnnotator