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Add ICD11 as a prefix for Disease #1531

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gaurav opened this issue Oct 21, 2024 · 2 comments
Open

Add ICD11 as a prefix for Disease #1531

gaurav opened this issue Oct 21, 2024 · 2 comments

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@gaurav
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gaurav commented Oct 21, 2024

Is your feature request related to a problem? Please describe.
Biolink Model supports ICD9 and ICD10 as prefixes for Disease:

disease:
aliases: ['condition', 'disorder', 'medical condition']
description: >-
A disorder of structure or function, especially one that produces specific
signs, phenotypes or symptoms or that affects a specific location and is not simply a
direct result of physical injury. A disposition to undergo pathological processes that exists in an
organism because of one or more disorders in that organism.
is_a: disease or phenotypic feature
exact_mappings:
- MONDO:0000001
- DOID:4
- NCIT:C2991
- WIKIDATA:Q12136
- SIO:010299
- UMLSSG:DISO
- STY:T047
- dcid:Disease
narrow_mappings:
- STY:T019
# Acquired Abnormality
- STY:T020
# Mental or behavioral disfunction
- STY:T048
# (Cell or Molecular Dysfunction)
- STY:T049
# (Neoplastic Process)
- STY:T191
# disease susceptibility
- MONDO:0042489
id_prefixes:
- MONDO
- DOID
- OMIM
- OMIM.PS
- orphanet
- EFO
- UMLS
- MESH
- MEDDRA
- NCIT
- SNOMEDCT
- medgen
- ICD10
- ICD9
- KEGG.DISEASE ## H number
- HP
- MP
- PHARMGKB.DISEASE
in_subset:
- model_organism_database
- translator_minimal

We should also support ICD11, which came out in Nov 2021. NodeNorm would like to add support for ICD11 mappings, but this would require ICD11 becoming an allowed prefix in the Biolink Model.

What working group (or team) did this request originate from?
NodeNorm (Translator SRI)

Note: This is relevant for members of NCATS Translator.

Describe the solution you'd like
Add ICD11 as a prefix for Disease (presumably just above ICD10).

Additional information to support this request (optional)
N/A

Tag relevant members for discussion
@sierra-moxon

@gaurav
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gaurav commented Dec 14, 2024

Note that other Monarch Initiative projects use the prefix icd11.foundation: and define it as either http://id.who.int/icd/entity/ as in monarch-initiative/icd11 or http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/ as in MONDO.

@sierra-moxon
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bioregistry defines icd11 as the prefix/namespace for this. It also defines an alternate prefix of ICD-11. There is some desire from Monarch folks to get icd11.foundation into bioregistry but it is not yet clear if this will be a prefix alias for the existing icd11 prefix or a new prefix (this resource has a lot of linearizations).

@gaurav - which resources are you consuming with this set of cross references? Primarily MONDO?

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