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Help with capturing some statements in PXF #94

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tudorgroza opened this issue Mar 10, 2017 · 1 comment
Open

Help with capturing some statements in PXF #94

tudorgroza opened this issue Mar 10, 2017 · 1 comment

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@tudorgroza
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  • Patient had: Skeletal muscle biopsy (SCTID: 430213002), which led to findings such as: Ragged red fibers (HP:0003200)
  • Patient had: Heart muscle biopsy, which led to findings such as: Ragged red fibers (HP:0003200) | Myocardial steatosis (HP:0006693)

Some more complicated ones:

  • Age of development regression
  • EEG findings (e.g., abnormal) at epilepsy onset
  • EEG findings (e.g., abnormal) at epilepsy evolution
  • Feeding assistance -> Improvement over time.
@cmungall
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Here the the biopsy would serve as the evidence, in this spot: https://github.com/phenopackets/phenopacket-reference-implementation/blob/master/src/test/resources/person-variant-phenotype-example1.yaml#L20-L21

The relevant branch of SNOMED would go where we also put ECO classes.

More later..

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