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

NameINSERM US14 (Institut national de la santé et de la recherche médicale)
Email address
Phone number
Address96, rue Didot, 75014 Paris, France
Code System Maintainer (Steward)Name
Email address
Phone number
Code System PublisherName
Email address
Phone number
OCode System NamesFormal name of the code systemOrphanet Nomenclature of Rare Diseases
Short name of the code systemOrphanet
Code System Technical IdentifiersHTA-endorsed URIhttps://www.orpha.net
HTA-endorsed OID
Other URIs
Other OIDs
Case Sensitive Codes (TRUE/FALSE)TRUE
Code System InformationLink
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
GARD) in order to enable interoperability between different information systems.

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
according to diagnostic and therapeutic relevance. This structure reflects the multidimensional nature of rare diseases and enables to carry out epidemiological and statistical studies for research

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
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 LicensingCopyright Statement

"The appropriate form when quoting Orphanet is:
Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net. Accessed (date accessed).

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."

Copyright Information

"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).
No element or part of the site (including, but not limited to, the database and the information contained within) can be copied, translated, reproduced, exploited, published, electronically stocked or redistributed for commercial use without prior written consent.

Large extraction of data from orphadata.org for use in another information system is allowed for any non-commercial use. Please refer to the legal notice of Orphadata for further information.

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
Licensing Information
HTA endorsement status (Draft, In review, Endorsed for use, Pending re-endorsement, Retired) ValueEndorsed for Use
Assignment date2022-02-24
HTA review statusLast review date2022-02-24
Next review date2023-02-24
Information current as at (date)
  • No labels

1 Comment

  1. Case sensitivity is not applicable as the codes in this code system are numeric. concern was raised that both True and False values actually apply and the use of False is more troublesome for the implementer. As the requirement to include <caseSensitive> originates from requirements in the IG Publisher and THO, the issue should be raised with FHIR-I.