Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding

Global classification and coding of hypersensitivity diseases - An EAACI - WAO survey, strategic paper and review

(2014) P. Demoly et al.   ALLERGY

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registry

(2014) Monica Mazzucato et al.   Orphanet Journal of Rare Diseases

The classification of neurological disorders in the 11th revision of the International Classification of Diseases (ICD-11)

(2013) S. Rajakulendran et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

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

(2012) Ana Rath et al.   HUMAN MUTATION