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Incorrect ICD10 mapping #8393

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merged 3 commits into from
Nov 14, 2024
Merged

Incorrect ICD10 mapping #8393

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54ea25d
Incorrect ICD10 mapping
katiermullen Nov 14, 2024
fdba760
remove x-ref
sabrinatoro Nov 14, 2024
bbae156
updated issue tracker annotation type
sabrinatoro Nov 14, 2024
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8 changes: 5 additions & 3 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -309897,7 +309897,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:280576"}
subset: orphanet_rare {source="Orphanet:280576"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "BANF1-related neurodevelopmental syndrome" EXACT CLINGEN_LABEL [https://search.clinicalgenome.org/CCID:008387]
synonym: "BANF1-related neurodevelopmental syndrome" EXACT CLINGEN_LABEL []
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I will update this

synonym: "Nestor-Guillermo progeria syndrome" EXACT [MONDO:Lexical, OMIM:614008]
synonym: "NGPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614008, Orphanet:280576]
synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [OMIM:614008]
Expand Down Expand Up @@ -372482,13 +372482,14 @@ subset: rare
synonym: "body of uterus squamous cell carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial squamous cell carcinoma" RELATED [Orphanet:213716]
xref: GARD:20479 {source="MONDO:GARD"}
xref: ICD10CM:C50 {source="MONDO:relatedTo", source="Orphanet:213716/ntbt", source="Orphanet:213716"}
xref: ICD10CM:C54.1 {source="MONDO:relatedTo", source="Orphanet:213716/ntbt", source="Orphanet:213716"}
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@katiermullen did you mean to have this x-ref as equivalent?
(I can update the PR)

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no, it was meant to be related

xref: MEDGEN:1633992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213716 {source="MONDO:equivalentTo"}
xref: UMLS:C4707099 {source="MONDO:equivalentTo", source="MEDGEN:1633992", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="Orphanet:213716"} ! cancer
intersection_of: MONDO:0005096 ! squamous cell carcinoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7998" xsd:anyURI

[Term]
id: MONDO:0016267
Expand All @@ -372502,13 +372503,14 @@ subset: rare
synonym: "body of uterus undifferentiated carcinoma" EXACT [MONDO:patterns/location]
synonym: "endometrial undifferentiated carcinoma" RELATED [Orphanet:213721]
xref: GARD:20480 {source="MONDO:GARD"}
xref: ICD10CM:C50 {source="Orphanet:213721/ntbt", source="MONDO:relatedTo", source="Orphanet:213721"}
xref: ICD10CM:C54.9 {source="Orphanet:213721/ntbt", source="MONDO:relatedTo", source="https://orcid.org/0000-0002-7347-2434", source="Orphanet:213721"}
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@katiermullen did you mean to have this x-ref as equivalent?
(I can update the PR)

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no, it was meant to be related.

xref: MEDGEN:1638762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: Orphanet:213721 {source="MONDO:equivalentTo"}
xref: UMLS:C4707822 {source="MEDGEN:1638762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0004992 {source="Orphanet:213721"} ! cancer
intersection_of: MONDO:0005617 ! undifferentiated carcinoma
intersection_of: disease_has_location UBERON:0009853 ! body of uterus
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7998" xsd:anyURI

[Term]
id: MONDO:0016268
Expand Down
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