Skip to main content
. 2016 Aug 31;7(3):817–831. doi: 10.4338/ACI-2016-04-RA-0058

Table 3.

Readiness of Genomic Resources regarding the HL7 IB Standard.

Resource Response Types Specific Terminologies used to index the content Code based searching support for Specific Terminologies
NCBI Resources: ClinVar, GeneReviews, Genetic Practice Guidelines, Genetic Testing Registry, MedGen HTML/Text XML/JSON (with e-utilities) OMIM, HGNC Approved Gene Symbol, UMLS, SNOMED-CT OMIM*
GHR (National Library of Medicine) HTML OMIM, HGNC Approved Gene Symbol, UMLS, SNOMED-CT OMIM
OMIM HTML/XML/JSON/JSONP (with Key) OMIM, HGNC Approved Gene Symbol, UMLS, SNOMED-CT OMIM
PharmGKB HTML OMIM, HGNC Approved Gene Symbol, UMLS, SNOMED-CT, NDFRT None
CPIC guidelines None None N/A

* While code-based searching with OMIM MIM numbers is supported by the www.ncbi.nlm.nih.gov resources, in some cases, we choose to use the search term itself to maximize coverage.