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Challenges of Ontology-Based Concept Normalization for Deep Phenotyping in Rare Skin Diseases.

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Title: Challenges of Ontology-Based Concept Normalization for Deep Phenotyping in Rare Skin Diseases.
Authors: Bataille P; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France.; Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Saint-Louis Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.; Department of Paediatric Dermatology, Robert-Debré Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France., Faviez C; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France., Wang X; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France., Bannour N; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France., Vincent M; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France., Bodemer C; Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France., Garcelon N; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France.
Source: Studies in health technology and informatics [Stud Health Technol Inform] 2026 May 21; Vol. 336, pp. 2503-2508.
Publication Type: Journal Article
Journal Info: Publisher: IOS Press Country of Publication: Netherlands NLM ID: 9214582 Publication Model: Print Cited Medium: Internet ISSN: 1879-8365 (Electronic) Linking ISSN: 09269630 NLM ISO Abbreviation: Stud Health Technol Inform Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Bataille+P%22">Bataille P</searchLink>; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France.; Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Saint-Louis Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.; Department of Paediatric Dermatology, Robert-Debré Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Faviez+C%22">Faviez C</searchLink>; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bannour+N%22">Bannour N</searchLink>; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Vincent+M%22">Vincent M</searchLink>; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bodemer+C%22">Bodemer C</searchLink>; Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Garcelon+N%22">Garcelon N</searchLink>; Clinical Bioinformatics Lab, Institut Imagine, INSERM UMR 1163, Université Paris Cité, Paris, France.
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