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

Studies in health technology and informatics - 21 May 2026

Bataille Pauline, Faviez Carole, Wang Xiaomeng, Bannour Nesrine, Vincent Marc, Bodemer Christine, Garcelon Nicolas

Abstract excerpt

Extracting and standardizing phenotypic information from free-text medical reports remains a main challenge in biomedical natural language processing (NLP). Conceptual normalization, which maps textual mentions to standardized vocabularies such as the UMLS or HPO, is a key step for deep phenotyping. Dystrophic epidermolysis bullosa (DEB) is a rare severe and heterogeneous skin disorder causing skin and mucosal...

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PMID: 42175393
DOI: 10.3233/SHTI260726

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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