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  1. FHIR Specification Feedback
  2. FHIR-32794

Consider renaming Associated-Phenotype to Associated-Condition

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    • Icon: Change Request Change Request
    • Resolution: Persuasive with Modification
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • 1.0.0
    • Clinical Genomics
    • Diagnostic Implication
      Therapeutic Implication
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      • Persuasive with mod
      • Rename diagnosticImplication associated-phenotype to predicted-phenotype.
      • Change cardinality from 0..1 to 0..*
      • Component definition: An observable characteristic (e.g., condition; disease) of an individual, as predicted by the presence of associated molecular finding(s)associated with the variant.  A code set is not specified, but it is ideal to use terms related to medical findings.  Some examples are SNOMED CT descendants of "Clinical finding" (404684003), ICD-10-CM chapters 1-18 (codes starting with letters A-R), and/or all of Human Phenotype Ontology (HPO). For example, if an individual's variant is associated with Type I Ehlers-Danlos syndrome, a valid response from SNOMED CT would be "Ehlers-Danlos syndrome, type 1 (code 83470009)".
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      Persuasive with mod Rename diagnosticImplication associated-phenotype to predicted-phenotype. Change cardinality from 0..1 to 0..* Component definition: An observable characteristic (e.g., condition; disease) of an individual, as predicted by the presence of associated molecular finding(s)associated with the variant.  A code set is not specified, but it is ideal to use terms related to medical findings.  Some examples are SNOMED CT descendants of "Clinical finding" (404684003), ICD-10-CM chapters 1-18 (codes starting with letters A-R), and/or all of Human Phenotype Ontology (HPO). For example, if an individual's variant is associated with Type I Ehlers-Danlos syndrome, a valid response from SNOMED CT would be "Ehlers-Danlos syndrome, type 1 (code 83470009)".
    • Arthur Herman / Bret Heale : 14-0-0
    • Clarification
    • Compatible, substantive

    Description

      In line with ClinVar's definition (and use of "condition" to represent medical phenotypes), I propose to rename Observation.component:associated-phenotype to associated-condition. The definition of "the possible phenotype associated with the genetic variant found in this study" could also be updated in LOINC 81259-4.

      From ClinVar:

      Represents medical phenotypes

      ClinVar aggregates the names of medical conditions with a genetic basis from such sources as SNOMED CT, GeneReviews, Genetic Home Reference, Office of Rare Diseases, MeSH, and OMIM®. ClinVar also aggregates descriptions of associated traits from Human Phenotype Ontology (HPO), OMIM, and other sources.

       

      Consider additional guidance for value example binding to SNOMED CT, OMIM, HPO, MeSH, etc. 

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            Unassigned Unassigned
            liz.amos Liz Amos
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