Megan S. Kane

progressive supranuclear palsy SCTID

3

**Mondo term (ID and Label):** MONDO:0019037 progressive supranuclear palsy **Xref that should be fixed (ID and label):** SCTID:28978003 (Actually maps to "Progressive supranuclear ophthalmoplegia," per UMLS's representation of SNOMED. Is...

MONDO:0006928 and MONDO:0100450 [Revise]

5

**Mondo term (ID and Label)** MONDO:0006928 proliferative vitreoretinopathy (and parent term MONDO:0100450 CAPN5 vitreoretinopathy) **Suggested revision and reasons** OMIM 193235 seems to be equivalent with the CAPN5 vitreoretinopathy term, and...

**Mondo term (ID and Label)** MONDO:0042915 Schmitt-Gillenwater-Kelly syndrome **Reason for deprecation** SNOMED CT 716092007 uses "Schmitt Gillenwater Kelly syndrome" and "Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema...

MONDO:0019777 Carpenter-Waziri syndrome [Obsolete?/X-ref update?/restructure subclass?]

4

**Mondo term (ID and Label)** MONDO:0019777 Carpenter-Waziri syndrome **Reason for deprecation** Carpenter-Waziri syndrome, ORPHA:93973 x-ref is no longer valid. ... "Summary This entity has been excluded from the Orphanet nomenclature...

Visceral/total heterotaxy?

14

**Summary for discussion with Peter and Ada:** See [comment](https://github.com/monarch-initiative/mondo/issues/2826#issuecomment-953250968) with figure below. _updated 2021-10-27 NV_ ---- I am trying to sort through the X-refs and mappings between MONDO:0018677 Visceral heterotaxy...

OMIM "included" entries and not the preferred names on MONDO terms

12

NV to do: _updated 02/10/22_ I need to write out concrete action items for Nico to work on this.

Clarification request- Sudden cardiac arrest/death

6

I am wondering about MONDO:0007264, "sudden cardiac arrest." The cross references map to multiple things: "sudden cardiac death" (SCTID:95281009), "cardiac conduction disorder" or defect NCIT: C78245 & OMIM 115080. Should...

Parietal foramina concept: HP:0004423 and HP:0002697

5

**HPO term** Parietal foramina HP:0002697 X-refs from HPO point to SNOMED 29307005 , with PT 'craniolacuna' and a syn of 'Parietal foramina'; and also SNOMED 11240000, PT 'Structure of parietal...

**HPO term** Metaphyseal dysostosis HP:0005899 and Metaphyseal chondrodysplasia HP:0005871 **Bug description** UMLS has lumped these onto the same CUI (Metaphyseal chondrodysplasia, UMLS CUI: C0265290) possibly because SNOMED CT uses these...

I am trying to align MedGen concepts with Mondo/Orpha/OMIM/SNOMED (and eventually UMLS CUI mapping) and am running into some issues with names, which will probably take review by multiple groups...