International Classification of Inherited Metabolic Disorders

The reasoning behind the ICIMD and additional information will be published in the Journal of Inherited Metabolic Disorders; the manuscript is available here

The ICIMD has been collated by Carlos R. Ferreira (National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA), Shamima Rahman (Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, United Kingdom), and Johannes Zschocke (Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria), together with the ICIMD Advisory Group listed the manuscript is available here

Formal endorsement and support:

• Society for the Study of Inborn Errors of Metabolism, SSIEM (www.ssiem.org)

• Society for Inherited Metabolic Diseases, SIMD (www.simd.org)

• Latin American Society of Inborn Errors of Metabolism and Neonatal Screening, SLEIMPN (www.sleimpn.org)

• Australasian Society for Inborn Errors of Metabolism, ASIEM (www.hgsa.org.au/asiem)

• Japan Society of Inherited and Metabolic Diseases, JSIMD (http://jsimd.net)

• European Reference Network for Rare Hereditary Metabolic Disorders, MetabERN (https://metab.ern-net.eu)

• Orphanet (www.orpha.net)

• IEMbase (www.iembase.org)

• Dutch Diagnosis Registration Metabolic Diseases (DDRMD) registry (www.ddrmd.nl)

• Vademecum Metabolicum (5th edition 2020; previous edition available at www.vademetab.org)

The sunburst plot and this website have been programmed by Markus Keller (Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria), and Benedikt Fuisz (Ampass, Austria).

The website has been made possible with the financial support of the Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria. en bezüglich Ihrer bei uns gespeicherten Daten grundsätzlich die Rechte auf Auskunft, Berichtigung, Löschung, Einschränkung, Datenübertragbarkeit, Widerruf und Widerspruch zu. Wenn Sie glauben, dass die Verarbeitung Ihrer Daten gegen das Datenschutzrecht verstößt oder Ihre datenschutzrechtlichen Ansprüche sonst in einer Weise verletzt worden sind, können Sie sich bei der uns oder der Datenschutzbehörde beschweren.