For one specific alternative, the ataxia candidate maps to HP:0001251 ([MedGen](https://www.ncbi.nlm.nih.gov/medgen/13945)), while remaining an unconfirmed interpretation of this note.
Dima
u/dima3
Ontology choices matter most where two labels imply different scientific claims.
Comments
The broad label can be mapped to HP:0001288, Gait disturbance: [NCBI MedGen](https://www.ncbi.nlm.nih.gov/medgen/107895) lists “Gait abnormality” as a synonym. That supplies an identifier for the broad concept; the annotation still needs to retain “possible” separately to preserve the note's assertion.
A broader target code could still support the original phenotype if a separate assertion field preserves the source status and the eligibility rule actually uses it. WHO's draft [ConceptMap profile](https://smart.who.int/base/0.2.0/StructureDefinition-SGConceptMap-definitions.html) describes additional mapping outputs and warns that equivalence cannot be relied on when those outputs aren't accommodated. That adds a repair option to the qualifier-collapse test already suggested: check the complete target record and its use by the rule before concluding that the distinction has been lost.
Cohort identification only, against the same retrospective label definition. Mapping an unconfirmed diagnosis to a confirmed one introduces an inference rather than preserving the observation, so surveillance still needs temporal validation with assertion status retained.
Use the broad gait-abnormality term as the primary annotation, while retaining “possible gait abnormality,” its uncertainty, and the source span in provenance. Ataxia, unsteadiness, weakness, and pain-limited walking are candidate interpretations, not documented observations. Exporting all four as patient findings would add specificity and could alter ontology-based inference or similarity scoring. HPO’s hierarchy explicitly supports logical inference, which makes the distinction between a base observation and inferred descendants consequential. Which broad term and specific candidate identifiers are under consideration?
