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Condition Naming Guidelines

GOAL: For each condition summary to be added to the Genetics Home Reference (GHR) web site, GHR staff will choose a name that is scientifically sound and reflects terminology used by researchers, clinicians, and patients.

Many conditions have multiple names associated with them because of scientific, idiosyncratic and historical reasons. GHR staff use the following guidelines to select the condition name that will be featured in the GHR topic:

  1. Determine whether there is agreement in naming among a majority of key resources, including:

    1. Gene ReviewsThis link leads to a site outside Genetics Home Reference.
    2. OMIMThis link leads to a site outside Genetics Home Reference.
    3. ORDR/GARDThis link leads to a site outside Genetics Home Reference.
    4. MeSHThis link leads to a site outside Genetics Home Reference./ UMLSThis link leads to a site outside Genetics Home Reference.
    5. OrphanetThis link leads to a site outside Genetics Home Reference.
    6. ACMG terminology for conditions related to newborn screening (as presented in Sweetman et al., 2006This link leads to a site outside Genetics Home Reference., Tables 1 and 2 )

    When there is majority agreement among those resources, GHR will use this condition name.

  2. If there is no agreement among those resources, GHR staff will look to the following sources for additional guidance:

    1. Input from GHR's expert reviewers.
    2. Terminology used by relevant advocacy groups.
    3. Majority use terminology as identified via a broad search of the scientific literature.
  3. In cases where there is no clear majority after a thorough review of the findings from items 1 and 2, GHR staff will discuss the different naming options for a condition and use their professional judgment to make a final decision.

 
Published: December 16, 2014