coFundedEn

Orphacode_logo

ORPHAcodes Mappings Browser

Orphanet Nomenclature Pack (JULY 2024)

The Orphanet nomenclature is a multilingual, standardised, controlled medical terminology specific to rare diseases, that includes all clinical entities registered in the Orphanet knowledge base.
Each clinical entity (disorder, group of disorders, or subtype of a disorder) is associated with a unique numerical identifier named ORPHAcode, as well as a preferred term, synonyms, and a definition.
Clinical entities are also aligned with ICD-10, ICD-11, SNOMED-CT and OMIM when relevant, and the mappings are qualified according to their precision and specificity. The Orphanet Nomenclature of rare diseases is produced according to standard procedures.

This tool allows users to search for rare clinical entity(ies) and find the corresponding references in the above mentioned terminologies.

Results include the characterization of the alignment relationship, with a cardinality from ORPHAcode to the target terminology. If no mapping is available or the entity is not present in the current nomenclature pack, the tool will show a pop-up message to inform the user. Results can be dowloaded as .csv or .xls files. For further information, you can consult the user guide.

Three search options are possible:

Simple search: Enter the ORPHAcode of the desired entity in the search bar;
Advanced search: search by label (preferred term or synonym fields) and/or by free text (definition field). You can refine your query by selecting a target terminology. You can also use the drop-down menu to enter a reference in the dedicated field and filter by level of mapping relationship;
Multiple queries from a search file: This function allows you to obtain a set of results by uploading an input file in a suitable format (see the Help button for more details). An example of input file is also provided.

The mappings browser is updated yearly in July according to the content of the most recent Orphanet nomenclature pack.

For any questions regarding these tools you can read Guidance for ORPHAcoding implementation and exploitation, or post an issue on our Orphanet's Github Tracker.

You will be able to visualise SNOMED-CT codes in this application, but due to licencing restrictions they will not appear in your data export.

KnowtheRarePhare

Mapping Legend
E : Exact Mapping
BTNT : Broader terms maps to narrower term
NTBT : Narrower terms maps to broader term

Disorder preferred term

Disorder synonym

Disorder definition

Terminology

Reference code

Mapping-relation type

This section allows users to retrieve a set of results from several advanced search queries built from an input file (choice of .xlsx and .ods formats). Click the Help button below to learn how to prepare a valid input file. You can also download a sample of a valid input file that you can use as a starting template.

Template file setup

The input file is a .xslx or .ods file composed of 7 columns corresponding to the searchable field of an entity.
Each row will build an advanced search query through filled fields and the values provided by user.
Up to 7 parameters can be set, and only one by row is mandatory to generate a query.

The available parameters are the following :

The provided input file is filled as below :

Here the queries will be "Retrieve mapping informations of disease(s) that have" :

Row 2:

Row 3:

Row 4:

Row 5:

Row 6:

Once the input file uploaded and submitted, the output file can be downloaded either as a .xlsx or .csv file.

A certain number of rows have been completed in the output file for each completed query, corresponding to the search results.
The initial queries have hence been shifted down the file as one query yields many results, but their order has been kept.

Upload a file…

Set table font size