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Identify patterns that need a normal alternate #1027

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Identify patterns that need a normal alternate#1027
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@sbello

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@sbello
sbello
opened on Apr 17, 2026

Discussed at the editors' call on 4/17/2026 https://docs.google.com/document/d/1WrQanAMuccS-oaoAIb9yWQAd4Rvy3R3mU01v9wHbriM/edit?tab=t.0#bookmark=id.ls07jxhg0jp7

As UPheno is intended to cover all phenotypes with respect to some reference we should add normal patterns for some set of the existing abnormal patterns.

  • We need to identify the patterns that need a normal version. Not all patterns will need this. We want to be able to say 'normal liver weight' we do not need to say 'normal increased liver weight'. Withing UPheno increased and decreased are always abnormal.
  • We need to generate the new patterns. To do this we need to change the modifier from abnormal to normal AND change the definition AND review the synonyms
  • Need to decide where the split between abnormal and normal should be in UPheno. The group discussed and thought this should be a high-level split. So we would have a neutral term at a very high level like 'cardiovascular system phenotype' then split right under that into normal and abnormal
  • We still need to figure out what words to use in place of abnormal/normal
    - changed doesn't work, it implies that your started with state a then changed to state b
    - atypical/typical doesn't work, has a very specific meaning in medicine
    - abnormal/normal doesn't work, too many negative meanings when applied to humans

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