Representing Patient Family Health History

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Type Standard Implementation/Specification Standards Process Maturity Implementation Maturity Adoption Level Federally required Cost Test Tool Availability
Standard for observations
Final
Production
Rating 3
No
Free
N/A
Standard for observation values
Final
Production
Rating 3
Yes
Free
N/A
Limitations, Dependencies, and Preconditions for Consideration Applicable Value Set(s) and Starter Set(s)
  • Some details around family genomic health history may not be captured by SNOMED CT®
  • See LOINC projects in the Interoperability Proving Ground.
  • For more information about observations and observation values, see Appendix II for an informational resource developed by the Health IT Standards Committee. 

Diagnosis and Conditions:

  • Problem Type 2.16.840.1.113883.3.88.12.3221.7.2 (LOINC® code system)
  • Problem urn:oid:2.16.840.1.113883.3.88.12.3221.7.4 (SNOMED CT® code system)

For genomic data:

  • Gene Identifier: HGNC Value Set (2.16.840.1.113883.4.642.2.468)
  • Transcript Reference Sequence Identifier: NCBI vocabulary
  • DNA Sequence Variation Identifier: NCBI vocabulary
  • DNA Sequence Variation: HGVS nomenclature (2.16.840.1.113883.4.642.2.392)

For family relationships and roles:

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NCBI resources for sequences, including RefSeq, dbVar, and dbSNP,  can be found here:

https://www.ncbi.nlm.nih.gov/guide/all/