SI – Representation of Human Genes in SNOMED CT

Hello,

The SNOMED International Content Team is seeking feedback on the Representation of Human Genes in SNOMED CT.

The purpose of this proposal is to introduce a suggested structure for the proper representation of human gene names and their associated chromosomal locations in the context of body structures, specifically as subcellular structures.

It does not intend to replicate all of the genomic relationships that might be represented in a gene ontology such as HUGO, but only those necessary to position clinically relevant genes appropriately. This proposal does not include any other relationships of genes such as the association of genes or gene variants with their associated clinical conditions.

This proposal also does not address the notion of a gene as an informational artifact, but focuses on the structural relationship of a gene to its associated chromosome to allow for queries that may identify all conditions associated with mutations in a specific chromosome.

For more details, please see the attached briefing note .

Please provide feedback on this proposal via this forum before June 10th.

Thank you,