MONDO:0002003 & MONDO:0006879 [Merge]

[kanems]

Mondo term (ID and Label) MONDO:0002003 papilledema

Reason for deprecation These terms may be synonyms? Based on overlapping Syns in Mondo and textual definitions these terms seem very similar. Shared synonyms: choked disc; optic (disc) edema

Optic papillitis: Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)

papilledema: Swelling around the optic disk, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor.

Term to be merged with MONDO:0006879 optic papillitis

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[twhetzel]

From what I am reading about "papilledema", this seems to be a phenotype rather than a disease. I would like to get feedback from @sabrinatoro @nicolevasilevsky and/or the Mondo Domain experts next week on this.

[nicolevasilevsky]

@twhetzel I agree this seems like a phenotype. It is not classified as a disease in NCIT and it is in HPO: https://hpo.jax.org/app/browse/term/HP:0001085

I agree with the merger, I think these inflammatory concepts are a grey area where they could be considered a disease or phenotype

[twhetzel]

@nicolevasilevsky if the suggested terms are to be merged, what do you suggest to do with 'Foster-Kennedy syndrome' MONDO:0001998, the child of 'papilledema', since 'Foster-Kennedy syndrome' does not seem to be considered a type of 'Optic papillitis'?

[nicolevasilevsky]

Normally in the case of a merger, the children would become children of the new term. I agrree that in this case, 'Foster-Kennedy syndrome' does not seem like a child of 'Optic papillitis' and upon a bit of research, I don't think it should be a child of papilledema either.

My suggested actions:

• [x] make papilledema an excluded superClass of 'Foster-Kennedy syndrome'
• [x] merge papilledema into MONDO:0006879 optic papillitis
• [x] add 'eye disorder' (MONDO:0005328) as a parent of 'Foster-Kennedy syndrome' with source: PMID:35892442
• [x] revise definition of 'Foster-Kennedy syndrome' to 'An eye disorder characterized by an insidious reduction in vision in one eye, accompanied by clinically significant papilledema in the fellow eye. The unilateral loss of vision and optic atrophy is due to compressive optic atrophy, which causes elevated intracranial pressure that leads to swelling in the fellow eye.' dbxref: PMID:35892442 (the MeSH definition seems out of date)

[cmungall]

I agree with @nicolevasilevsky's proposed actions

[monicacecilia]

We did some literature recon and chatted with Ada during last week's domain experts call. I agree with Ada’s determination that this is not a disease (even though it has the word ‘syndrome’ in the name).

Foster-Kennedy syndrome is very rare and describes a phenotype that sometimes accompanies brain lesions (intracranial masses). The lesion increases the pressure, and the compression of the optic nerve causes the reduction/loss of sight in the eye closest to the lesion.

How do we usually treat this? I thought that was a phenotype. 😬