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ID

45890

Description

Principal Investigator: Rex Chisholm, PhD, Northwestern University MeSH: Arthritis, Rheumatoid https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000983 Rheumatoid arthritis (RA) is the most common autoimmune inflammatory arthritis worldwide and affects 1.3 million adults in the USA. It has previously been studied using phenotype algorithms to identify electronic health records (EHR) case cohorts. Early genetic studies of EHR-linked cohorts of RA patients have been replicated in known associations. Further development of collections of EHR-linked cohorts for RA and other phenotypes may enable not only enhanced understanding of disease risks but also the investigation of outcomes and treatment responses.

Link

dbGaP study = phs000983

Keywords

  1. 12/1/23 12/1/23 - Simon Heim
Copyright Holder

Rex Chisholm, PhD, Northwestern University

Uploaded on

December 1, 2023

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000983 Pharmacogenomics of Rheumatoid Arthritis Therapy

    This sample attributes data table includes body site where sample was collected, analyte type, tumor status, and histological type.

    pht005007
    Description

    pht005007

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    De-identified Sample ID
    Description

    SAMPID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Body site where sample was collected
    Description

    BODY_SITE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0449705 (Site of sampling)
    SNOMED
    246317007
    LOINC
    MTHU008875
    Analyte Type
    Description

    ANALYTE_TYPE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4744818 (Analyte Type)
    Tumor status
    Description

    IS_TUMOR

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0475752 (Tumor status)
    SNOMED
    277058005
    Cell or tissue type or subtype of sample
    Description

    HISTOLOGICAL_TYPE

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2347026 (Biospecimen)
    UMLS CUI [1,2]
    C0007634 (Cells)
    SNOMED
    4421005
    LOINC
    LP14738-6
    UMLS CUI [1,3]
    C0332307 (Type - attribute)
    SNOMED
    261664005
    UMLS CUI [2,1]
    C2347026 (Biospecimen)
    UMLS CUI [2,2]
    C0007634 (Cells)
    SNOMED
    4421005
    LOINC
    LP14738-6
    UMLS CUI [2,3]
    C0449560 (Subtype (attribute))
    SNOMED
    260837004
    UMLS CUI [3,1]
    C1292533 (Tissue specimen)
    SNOMED
    119376003
    UMLS CUI [3,2]
    C0332307 (Type - attribute)
    SNOMED
    261664005
    UMLS CUI [4,1]
    C1292533 (Tissue specimen)
    SNOMED
    119376003
    UMLS CUI [4,2]
    C0449560 (Subtype (attribute))
    SNOMED
    260837004

    Similar models

    This sample attributes data table includes body site where sample was collected, analyte type, tumor status, and histological type.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht005007
    C3846158 (UMLS CUI [1,1])
    SAMPID
    Item
    De-identified Sample ID
    string
    C4684638 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    BODY_SITE
    Item
    Body site where sample was collected
    string
    C0449705 (UMLS CUI [1,1])
    ANALYTE_TYPE
    Item
    Analyte Type
    string
    C4744818 (UMLS CUI [1,1])
    Item
    Tumor status
    text
    C0475752 (UMLS CUI [1,1])
    Code List
    Tumor status
    CL Item
    Is not a tumor (N)
    C0027651 (UMLS CUI [1,1])
    C1518422 (UMLS CUI [1,2])
    CL Item
    Is Tumor (Y)
    C0027651 (UMLS CUI [1,1])
    HISTOLOGICAL_TYPE
    Item
    Cell or tissue type or subtype of sample
    string
    C2347026 (UMLS CUI [1,1])
    C0007634 (UMLS CUI [1,2])
    C0332307 (UMLS CUI [1,3])
    C2347026 (UMLS CUI [2,1])
    C0007634 (UMLS CUI [2,2])
    C0449560 (UMLS CUI [2,3])
    C1292533 (UMLS CUI [3,1])
    C0332307 (UMLS CUI [3,2])
    C1292533 (UMLS CUI [4,1])
    C0449560 (UMLS CUI [4,2])

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