monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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pulmonary valve stenosis vs. valvular pulmonary stenosis #1260

Closed maglott closed 4 years ago

maglott commented 4 years ago

valvular pulmonary stenosis does not have a definition. Is this stenosis of the pulmonary valve? It is defined as a subtype of Congenital pulmonary valve stenosis by Orphanet, so it seems we have some duplication of concepts and need to review relationships.

MONDO_0020395 'valvular pulmonary stenosis' MONDO_0006936 'pulmonary valve stenosis'

orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3189 (Congenital pulmonary valve stenosis)

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=14071&Disease_Disease_Search_diseaseGroup=Orphanet_99054&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Valvular-pulmonary-stenosis&title=Valvular%20pulmonary%20stenosis&search=Disease_Search_Simple

nicolevasilevsky commented 4 years ago

Good question @maglott

@ana-rath-orphanet could you comment on this?

nicolevasilevsky commented 4 years ago

The text def of 'pulmonary valve stenosis' is: The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete. Source: MESH:D011666

nicolevasilevsky commented 4 years ago

My brief google search suggests these two terms are equivalent.

ana-rath-orphanet commented 4 years ago

Hello Both concepts are not the same, but hierarchically dependent. see the classification, based on IPCCC: Congenital pulmonary valve stenosis ORPHA:3189 Subpulmonary stenosis ORPHA:3190 Supravalvular pulmonary stenosis ORPHA:3192 Valvular pulmonary stenosis ORPHA:99054

We need to correct the latter to "valvar" instead of "valvular" and that will make things much more clear, always according to IPCCC (ticket open in Orphanet) Definitions can be found also in IPCCC source (FYI they revised ICD11) http://ipccc.net/ipccc-download-form/

Thank you keeping both concepts Ana

ana-rath-orphanet commented 4 years ago

the classification format in my comment disappeared : ORPHA:3189 is the parent of the other three ;)

nicolevasilevsky commented 4 years ago

Thanks @ana-rath-orphanet!