Adding ordr rare diseases terms to mesh tree structure
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Adding ORDR Rare Diseases Terms to MeSH Tree Structure. Stephen C. Groft, Pharm. D. Director, office of Rare Diseases Research National Institutes of Health Department of Health and Human Services, USA ICORD 2009 Rome, Italy February 23-25, 2009. Scientific Disease Coding Within NIH.

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Adding ORDR Rare Diseases Terms to MeSH Tree Structure

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Adding ordr rare diseases terms to mesh tree structure

Adding ORDR Rare Diseases Terms to MeSH Tree Structure

Stephen C. Groft, Pharm. D.

Director, office of Rare Diseases Research

National Institutes of Health

Department of Health and Human Services, USA

ICORD 2009

Rome, Italy

February 23-25, 2009


Scientific disease coding within nih

Scientific Disease Coding Within NIH

  • NIH is developing the application of Knowledge Management (KM) tools for Research, Disease and Condition Coding

    • Building on expert science knowledge of NIH to develop standard definitions of topic areas

    • Automate the disease reporting across the NIH

    • Standardize the budget reporting by disease and condition areas

    • Provide technological infrastructure for additional forms of portfolio analyses

    • ~350 Categories Including Orphan Drugs, AT ,OI, CF,CMT

    • http://report.nih.gov/rcdc/categories/


Expanding mesh tree with rare diseases terms at the nlm nih

Expanding MeSH Tree with Rare Diseases Terms at the NLM/NIH

  • >6500 Rare Diseases Related Terms

  • ~ 2500 Disease Terms Present in MeSH Tree Structure as Main Headings or Entry Terms

  • Supplemental Concept Records Class III Includes Terms Intended for Adoption into MeSH 2010

  • Marked as In Progress>Provisional>Marked for Review>Authorized for Acceptance

  • New Terms can be Main Headings or Entry Terms Based on Frequency in Literature


Expanding mesh tree with rare diseases terms at the nlm nih1

Expanding MeSH Tree with Rare Diseases Terms at the NLM/NIH

  • Value of Expansion

  • Enhance Information Retrieval - Pub Med Articles And Others Will Have Terms Added During Indexing

  • Linked to International Language Equivalents

  • Part of UMLS linked to terms in

    • OMIM

    • SNOMED

    • HUGO

    • Other Databases


Adding ordr rare diseases terms to mesh tree structure

An Approach to Coordinated Efforts for Successful Orphan Products Development/Rare Diseases Research – Limiting the Risk


Moving towards a collaborative global approach

Moving Towards A Collaborative Global Approach


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