RobertJCarroll
commented
3 years ago Profile Observation Fields:
- Code stores the phenotype code. Bound at
requiredto HPO - Value stores assertions about finding present or absent
- Interpretation also indicates the positive and negative
Requester information
Name- Eric Torstenson
Affiliations- VUMC/Anvil
Request Details
Purpose- Profiling these will permit us to clarify the purpose and the code system's that one can expect to be used. It also will clarify our usage of values and interpretation to indicate presence/absence of the specified phenotype.
Who it benefits- Any group that captures information regarding the presence or absence of HPOs or other phenotypic traits.
Use case- A patient may have one or more phenotypes that have been observed to be either present or absent. These can be annotated currently using Observations, but using a HumanPhenotype profile, there will be an added level of clarity as to what those entries represent.