Human Genes

Human genes are modeled as cell structures in the Body structure hierarchy. Genes are named according to the HUGO Gene Nomenclature Committee (HGNC).

Naming

• FSN: <HGNC Approved Name> gene (cell structure)

  • Note: Only add gene if the HGNC Approved Name does not already include it.

  • Case sensitivity = CS

• PT: <HGNC Gene Symbol> gene

  • Note the PT does not include a semantic tag.

  • The HGNC gene symbol is always UPPER CASE.

  • Case sensitivity = CS

• All HGNC Alias symbols must be added as additional descriptions.

Case Sensitivity

Conform to HGNC naming conventions. Note that HGNC approved names begin with a lowercase letter; the SNOMED FSN should retain this initial lowercase. This is an exception to SNOMED CT policy for descriptions.

Modeling

Human genes are modeled with the following two IS A relationships:

• 382391000210108 |Gene structure (cell structure)|

  • Exception: Proto-oncogenes must be a subtype of 1396287006 |Proto-oncogene structure (cell structure)|.

• The specific Chromosomal band structure identified in the HGNC chromosomal location field.

  • Structure of chromosome band <X> (cell structure)

  • If the specific band does not exist, it must be added.

Attribution

Each concept must include an attribution to the HGNC URI of the gene symbol report, stored in the [Insert Specific Field/Refset Name].

Example 1: COQ4

• IS A Structure of chromosome band 9q34.11 (cell structure)

• IS A 382391000210108 |Gene structure (cell structure)|

• FSN: coenzyme Q4 gene (cell structure)

• PT: COQ4 gene

• SY: CGI-92 gene

• Attribution: HGNC: Gene symbol report | HUGO Gene Nomenclature Committee

Example 2: RET

• IS A Structure of chromosome band 10q11.21 (cell structure)

• IS A 1396287006 |Proto-oncogene structure (cell structure)|

• FSN: ret proto-oncogene (cell structure)

• PT: RET gene

• SY: PTC gene

• SY: CDHF12 gene

• SY: RET51 gene

• SY: CDHR16 gene

• Attribution: HGNC: Gene symbol report | HUGO Gene Nomenclature Committee

Previous symbols and alias symbols

Previous symbols and alias symbols are added to gene concepts, followed by the word gene, where they are unique to a specific approved gene name. Where the same previous or alias symbols appear on multiple genes, they are to be omitted.