Details
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Change Request
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Resolution: Persuasive with Modification
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Medium
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Genomics Reporting (FHIR)
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1.0.0
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Clinical Genomics
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Diagnostic Implication
Therapeutic Implication -
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Arthur Herman / Bret Heale : 14-0-0
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Clarification
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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.