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#1Diseases - Orphanet
Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems ...
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#2ORPHA Coding - RD-CODE
The Orphanet nomenclature of rare diseases (ORPHAcodes) has been recognised as the most appropriate nomenclature for clinical coding of rare diseases in ...
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#3Nomenclature and classification of rare diseases - Orphadata
The dataset includes all Orphanet clinical entities, their alignments with ICD-10 codes, and the Orphanet classification. Available in English, French, German, ...
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#4ORPHANET - NORD (National Organization for Rare Disorders)
The ORPHANET is a database dedicated to providing information on rare diseases and orphan drugs. Its access is free of charge. It includes an encyclopedia ...
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#5Rare diseases in ICD11
So far 5400 rare diseases listed in the Orphanet database have an ... for health care coding systems to consider using ORPHA codes in ...
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#6Orphanet - Wikipedia
Orphanet is a European website providing information about rare diseases as well as ... You can also look for a specific disease by entering the ICD-code, ...
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#7Rare diseases codification in health information systems
In Europe, countries having national plans/strategies for RD decided to integrate the Orphanet nomenclature of RD, and code patients with ...
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#8Does Your Rare Disease Have a Code? - Eurordis
The Orpha codes system is designed based on Orphanet data. For more information visit Orphadata.org. Each of the nearly 7000 rare diseases ...
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#9Coding Rare Disorders: Introduction to the Orphanet ... - ERKNet
Why code Rare Disorders? Page 3. www.orpha.net. How does the Orphanet nomenclature ... Coding a patient with the classification.
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#10Estimating cumulative point prevalence of rare diseases - Nature
Overall, Orphanet contains information on 6172 unique rare diseases; ... diagnostic criteria or coding systems to capture this data [15].
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#11Clinical Practice Guidelines for Rare Diseases: The Orphanet ...
The Orphanet project on CPG collection, evaluation and dissemination is a ... among which the ORPHA code, epidemiological and genetic data, ...
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#12INSERM and SNOMED International release SNOMED CT to ...
Orphanet, the Inserm unit dedicated to knowledge on rare diseases, maintains the Orphanet nomenclature of rare diseases (ORPHA codes) and ...
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#13Representation of Rare Diseases in Health Information Systems
ORPHANET (www.orpha.net) is a multilingual information portal on rare diseases and orphan drugs. ... This lack of codes is also particularly unfortunate now.
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#14The UK Strategy for Rare Diseases - GOV.UK
Coding and classification ... The UK will work with its Orphanet ... codes used in hospitals and the Orphanet codes. Effective IT support.
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#15Code systems - Orphanet Germany - BfArM
BfArM - Federal Institute for Drugs and Medical Devices · Navigation and service · Orphanet Germany · All topics at a glance · Footer ...
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#16Orphanet Rare Disease Ontology - EMBL-EBI
The Orphanet Rare Disease ontology (ORDO) is jointly developed by Orphanet and the EBI to provide a structured vocabulary for rare diseases ...
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#17Representation of rare diseases in health information systems ...
ORPHANET (www.orpha.net) is a multilingual information portal on rare ... The lack of specific codes for rare disorders in international ...
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#18ORPHAcodes for rare diseases - YouTube
Learn more about ORPHAcodes and how to use them in this video detailling the outputs of the RD-CODE project.This video is part of the ...
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#19orphanet-rare-diseases-issues/RD-CODE - GitHub
In the framework of the RD-CODE project, Orphanet provides a set of files, the Orphanet nomenclature files for coding, intended to be used to implement the ...
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#20SNOMED CT and Orphanet – working together
To find the Orphanet nomenclature. Alphabetical list of names and synonyms with ORPHA code. Updated every 6 months. Translated. PDF (download, print).
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#21Is your rare disease visible? | Raremark
At the moment, the best solution for these patients is to use codes that ... A unique ICD code for each rare disease provided by the Orphanet database will ...
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#22The collective impact of rare diseases in Western Australia
systems do not use these codes as a classification tool. Orphanet has cross-referenced Orpha codes to ICD-10, which has helped.
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#23677024_DEL5.5_Recommendation-routine-maintenance ...
The use of the Orphanet nomenclature for coding rare diseases (RD) in a standardized way should improve the visibility of rare disease patients on Member.
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#24ICD revision process – Rare Diseases TAG fact sheet - WHO ...
o Europe: Ségolène Aymé (Chair) and Ana Rath, INSERM/Orphanet ... codes are created for rare diseases, to allow them to be identified as such in order to.
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#25Orphanet Rare Disease Ontology (ORDO) - RD-Connect
The Orphanet Rare Disease Ontology (ORDO) is an open-access ontology developed from ... An Evidence Code Ontology (ECO) is used to encode the provenance of ...
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#268.-Ayme-Segolene_Orphanet.pdf - KDIGO
Orphanet 20 years later. Lessons on Informa0on needs ... Orphanet was established in 1997 in France ... Suitable to code clinical ac vity / lab ac vity in.
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#27Nomenclature Orphanet : création des nouveaux codes ...
Nomenclature Orphanet : création des nouveaux codes ORPHA et mise à jour du thésaurus dans BaMaRa 25/05/2021. Auteur : Maria Givony.
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#28Belgian contribution to the international Orphanet portal for ...
Orphanet ultimate aims are to improve diagnosis, care and treatment ... the ORPHAcodes, that can be used to identify rare diseases in health ...
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#29Terminologie vzácných onemocnění, databáze Orphanet
Terminologie vzácných onemocnění, databáze Orphanet ... kódovací systém pro jednoznačnou identifikaci jednotek onemocnění (Orpha codes, Orpha kódy).
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#30Orphanet Quality Charter
Data collection and dissemination of information abide by the legal provisions in force in the countries concerned: the professional code of ethics, ...
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#31Orphanet Journal of Rare Diseases - Cure HHT
Orphanet Journal of Rare Diseases 2014, ... in three different genes have been identified, all coding for proteins of the TGF-β/BMP-9 signalling pathway.
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#32EpiCARE Registry project
Medium term (within 18-24 months): Making the registry interoperable ('FAIRification') so that linkage with codes, for example, Orphanet and WHO, ...
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#33Kodierung von Seltenen Erkrankungen | BMG
Jeder Seltenen Erkrankung der Datenbank Orphanet ist eine spezifische Kennnummer, die sogenannte Orpha-Kennnummer ("OrphaCode") zugeordnet, das heißt dass es ...
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#34Terminologies | Standards Categoria - Centro de ...
The ICD-10-CM represents a considerable increase in codes for classification of diagnoses ... The Orpha coding system was designed based on Orphanet data.
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#35La nomenclature des maladies rares (Orphanet) - BNDMR
BaMaRa utilise la nomenclature Orphanet pour identifier la ou les maladies rares ... Orphanet se voit attribuer un identifiant unique et stable, le Code ORPHA.
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#36Orphanet Rare Disease Ontology - Summary | NCBO BioPortal
It derived from the Orphanet database (www.orpha.net ) , a multilingual database dedicated to rare diseases populated from literature and ...
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#37Definition und Kodierung – der Schlüssel zu Informationen
www.orphanet.de. Die größten Probleme des ICD10. Nur 240 seltene Erkrankungen mit einem spezifischen Code. Keine Sichtbarkeit seltener Erkrankungen in ...
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#38Alpha-ID - DIMDI
Code systems - Terminologies - Alpha-ID -SE ... Alpha-ID -SE - Scope of application "Rare diseases" · Rare diseases, ICD -10 and Orphanet ...
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#39Orphanet España
Como parte del proyecto RD-CODE financiado por el 3er Programa de Salud de la UE, Orphanet ha producido un breve vídeo que explica a los usuarios ...
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#40Increasing Access to Care for Hemophilia - News Medical
This disease is caused by the mutation of a gene that codes for a protein essential for normal blood ... Orphanet Journal of Rare Diseases.
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#41Search: authors:"Chen, Xiang" - Paperity
Mar 2022 | Orphanet Journal of Rare Diseases, Ni, Qi, Chen, Xiang, Zhang, ... Here, we further investigated the roles of long non-coding RNAs (lncRNAs) in ...
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#42Obésité : le gras, c'est délicat - Inserm
3 天前 — La seipine est une protéine indispensable au bon fonctionnement de nos adipocytes, les cellules qui constituent le tissu adipeux.
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#43Phenomics - 第 16 頁 - Google 圖書結果
Parents of the Orphanet rare disease ontology “Bardet–Biedl syndrome” (Orpha ... This term has cross-references to corresponding ICD codes, OMIM entries, ...
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#44無題 - 第 128 頁 - Google 圖書結果
The engine starts on MorbidMap resource based on a word, a gene symbol or omim code associated to a disease. The web wrappers will gather then the remaining ...
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#45Wills Eye Institute 5-Minute Ophthalmology Consult - Google 圖書結果
Orphanet Journal ofRare Diseases 2007;2:43. ... CODES ICD9 270.2 Other disturbances of aromatic amino-acid metabolism CLINICAL PEARLS • Oculocutaneous ...
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#46Advancing Disease Modeling in Animal-Based Research in ...
... are often described in terms of billing or electronic health record codes, ... Orphanet, and other existing clinical and research ontology standards.
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#47Andrews' Diseases of the Skin E-Book: Clinical Dermatology
Orphanet J Rare Dis 2011; 6:70. Niedernhofer LJ, et al: Xeroderma pigmentosum ... The gene mutated in Bloom syndrome, BLM, codes for a RecQ DNA helicase.
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#48Pediatric Endocrinology - 第 289 頁 - Google 圖書結果
Pancreatic agenesis attributable to a single nucleotide deletoin in the human IPF1 gene coding sequence. ... Orphanet J Rare Dis, 5, 29. 77.
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#49Le diabète du bébé | Pour la Science
... du gène kcnj11 qui code la sous-unité Kir6.2 du canal potassique. ... to multiple mechanisms, in Orphanet J. Rare Dis., en ligne, 2007.
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#50Maladies rares – Les orphelins de la médecine - CentPapiers
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