When adding a new HTA External Code System Information page ensure that a row for the code system is added to the index at the following link: HTA — External Terminologies - Information – Code System Metadata Records Index
Data element name
Sub data element name
Code System Owner
|Name||INSERM US14 (Institut national de la santé et de la recherche médicale)|
|Address||96, rue Didot, 75014 Paris, France|
|Code System Maintainer (Steward)||Name|
|Code System Publisher||Name|
|OCode System Names||Formal name of the code system||Orphanet Nomenclature of Rare Diseases|
|Short name of the code system||Orphanet|
|Code System Technical Identifiers||HTA-endorsed URI||https://www.orpha.net|
|Case Sensitive Codes (TRUE/FALSE)||TRUE|
|Code System Information||Link|
|Notes||"Orphanet has developed and maintains the Orphanet nomenclature of rare diseases, a unique and multilingual standardised system aimed at providing a specific terminology for rare diseases. Each clinical entity is assigned a unique and time-stable ORPHAcode, around which the rest of the data|
present in the Orphanet database is structured. This clinical coding system provides a common language across healthcare and research systems for effective monitoring and reporting on rare diseases, thus improving their visibility.
The Orphanet nomenclature is cross-referenced with other international terminologies and reference databases (including OMIM, ICD-10, SNOMED-CT, MedDRA, UMLS, MeSH, and
Orphanet also maintains the Orphanet classification of rare diseases, a multi-hierarchical and polyparental structure built on the Orphanet nomenclature and organised by medical specialty
By providing these services, Orphanet actively contributes to generating knowledge on rare diseases and promotes the improvement of the diagnostic pathway and clinical care provided to affected patients."
Data can be downloaded from here: http://www.orphadata.org/cgi-bin/rare_free.html
|Arrangement or agreements with HL7 for use of content||None|
|Version management||The Orphanet nomenclature files for coding is updated |
annually. The Classification of rare diseases
is updated monthly. The rare diseases and alignment with terminologies and databases is also updated monthly
|Code System Copyright, Intellectual Property and Licensing||Copyright Statement|
"The appropriate form when quoting Orphanet is:
The appropriate form when quoting an Orphanet text is: Author(s). “Name of disease”. Orphanet Encyclopaedia, Month, year, URL address.
The appropriate form when quoting an Orphanet Emergency Guideline is : Author(s). ?Name of disease?. Orphanet Emergency Guideline, Month, year, URL address.
The appropriate form when quoting an Orphanet General Public text is : Author(s). ?Name of disease?. Orphanet General Public Encyclopaedia, Month, year, URL address.
The appropriate form when quoting an Orphanet Disability Factsheet is : Author(s). ?Name of disease?. Orphanet Disability Factsheet, Month, year, URL address."
"The INSERM holds all intellectual property rights concerning the structure of the database, the format of the website, the logo and copyright, as well as the data and information on the site (content, texts, classifications, nomenclatures, and press statements).
However, INSERM US14 allows the user to reproduce all or part of the site?s content, in one saved or printed copy. This right applies strictly to personal, private and non-collective use of the material.
Non-profit organisations are authorised to copy and distribute information from the site, as long as this information is neither modified nor sold. In addition to this, the terms of the intellectual property rights and the source of the information must be provided."
|Intellectual Property Information|
|HTA endorsement status (Draft, In review, Endorsed for use, Pending re-endorsement, Retired)||Value||Endorsed for Use|
|HTA review status||Last review date||2022-02-24|
|Next review date||2023-02-24|
|Information current as at (date)||2022-02-24|