There is a newer version of the record available.

Published March 31, 2022 | Version v2022-03-31
Software Open

monarch-initiative/MAxO: March 2022 release

Authors/Creators

  • 1. The Jackson Laboratory for Genomic Medicine
  • 2. semanticly Ltd
  • 3. Jackson Laboratory for Genomic Medicine
  • 4. Harvard Medical School

Description

Many new terms and updates!

  • ODK 1.3.0 update
  • updated link to the license
New Terms
  • add preimplantation genetic testing
  • add clinical whole genome sequencing and clinical whole exome sequencing
  • add Doppler ultrasonography
  • add fetal echocardiography
  • add botox injection terms
  • add intrauterine fetal transfusion
  • add FAP terms, particularly surgical removal terms
  • add serum alpha-fetoprotein measurement
  • add cognitive assessment branch
  • add copper and iron chelator treatment terms
New Patterns or updates to patterns
  • add new endoscopy pattern
    • add protein ontology import ### Other
  • synonym to audiometric procedure
  • add synonyms to echocardiography
    • obsolete fetal Doppler monitoring
  • obsolete Doppler velocimetry
    • update errors in vitamin supplementation/FOODON obsoleted terms

Files

monarch-initiative/MAxO-v2022-03-31.zip

Files (67.5 MB)

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md5:b8325a04859e0046e80c9c41967d8e25
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Additional details

Related works

Is supplement to
https://github.com/monarch-initiative/MAxO/tree/v2022-03-31 (URL)