Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

Human Mutation

Volumn 33, Issue 5, 2012, Pages 803-808

  Rath, Ana ^a   Olry, Annie ^a   Dhombres, Ferdinand ^a   Brandt, Maja Miličić ^b   Urbero, Bruno ^a   Ayme, Segolene ^a  

^a INSERM   (France)

^b National Genetics Reference Laboratory   (United Kingdom)

Author keywords

Classification; Interoperability; Nosology; Ontology; Rare diseases; Relational database

Indexed keywords

ORPHAN DRUG;

ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; DISEASE CLASSIFICATION; FACTUAL DATABASE; HUMAN; INTERNATIONAL CLASSIFICATION OF DISEASES; MEDICAL INFORMATION SYSTEM; MEDICAL TERMINOLOGY; PRIORITY JOURNAL; RARE DISEASE; REFERENCE DATABASE; SEMANTICS; STANDARD; CLASSIFICATION; INFORMATION DISSEMINATION; NOMENCLATURE; ONLINE SYSTEM;

DATABASES, FACTUAL; HUMANS; INFORMATION DISSEMINATION; ONLINE SYSTEMS; RARE DISEASES; TERMINOLOGY AS TOPIC;

EID: 84864358886     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22078     Document Type: Article

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