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UMLSs not in Node Norm #425

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sstemann opened this issue Jul 13, 2023 · 2 comments
Closed

UMLSs not in Node Norm #425

sstemann opened this issue Jul 13, 2023 · 2 comments
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@sstemann
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sstemann commented Jul 13, 2023

On Today's (7/13) Data Modeling Test Hour, MVP1 for disease Ehlers-danlos Syndrome, Vascular Type, has UMLS results that are not in Node Norm

https://ui.test.transltr.io/results?l=Ehlers-danlos%20Syndrome,%20Vascular%20Type&i=MONDO:0010808&t=0&q=02cb5889-94ce-4551-a901-83d601332a1b

image

UMLS:c0038818 - Sunscreening Agents
{
"UMLS:C0038818": null
}

UMLC:c0593554 - Depigmenting Agent

{
"Umls:c0593554": null
}

There was another result set here: https://ui.test.transltr.io/results?l=Ehlers-danlos%20Syndrome,%20Hypermobility%20Type&i=MONDO%3A0010808&t=0&q=1be6e36e-f8a5-421a-ac8c-531a4548ad25

with UMLS:C1533054

{
"UMLS:C1533054": null
}

image
@gaurav
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gaurav commented Aug 1, 2023

As far as I can tell, UMLS:C1533054 has been obsoleted (as indicated by the lack of any non-obsolete/suppressible atoms) -- I think you're supposed to use UMLS:C4020582 "Mood Stabilizers" or UMLS:C1276998 "mood stabilizing drug".

UMLS:C0038818 and UMLS:C0593554 are both missing for the same reason, which is that UMLS categorizes them as semantic type T167 "Substance", which is not currently mapped to a Biolink type (There are actually 18,360 UMLS concepts being skipped because they are of this semantic type, and ~35K UMLS concepts being skipped because of unmapped types, as listed at TranslatorSRI/NodeNormalization#119 (comment)). It looks like biolink:ChemicalEntity was mapped to T167 at some point, but this mapping has since been removed. I've made a request at Biolink to have them add a mapping for STY:T167 (biolink/biolink-model#1370); if they can't, I can add one just for this semantic type in Babel.

@sstemann
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overcome by events. cannot replicate

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