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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: Spinal cord biopsy: granulomas (Lab: pathology: biopsies & morphology) #9447

Closed pnrobinson closed 9 months ago

pnrobinson commented 1 year ago

New term request Spinal cord biopsy: granulomas (elthat_211222141925):

pnrobinson commented 1 year ago

@MickeySegal Should we specify what part of the spinal cord? I see several references to the granulomatosis localized in the leptomeninges of the spinal cord, is this what is meant?

MickeySegal commented 1 year ago

We only have this for https://omim.org/entry/619381, which refers to "central nervous system inflammation with granulomatous lesions of the spinal cord".

pnrobinson commented 1 year ago

In this case it is epidural on the cervical spinal cord http://www.ajnr.org/content/24/1/18 here also https://www.frontiersin.org/articles/10.3389/fimmu.2018.01258/full however, in this paper it is intramedullary Cervical and thoracic spine MRI of Patient 4 taken at 26 years of age showing a signal enhancing intramedullary space-occupying lesion through nearly the entire length of the cervical and thoracic spinal cord. One representative image out of 6 acquired images is shown. All images revealed signs of inflammation. (Extended figure 2b).

MickeySegal commented 1 year ago

Also https://www.omim.org/entry/619381 "central nervous system inflammation with granulomatous lesions of the spinal cord that responded to high-dose steroids".

So it is not clear that specifying exactly where in the spinal cord would be worthwhile.

pnrobinson commented 9 months ago

@MickeySegal

Adding new term: