Orphanet terminologies mapping service

Orphanet terminologies mapping service (Available only in english)

About this service

Orphanet has developed and maintains the Orphanet nomenclature of rare diseases, a multilingual, standardised, controlled medical terminology specific to rare diseases.

Each clinical entity is associated with a unique numerical identifier named ORPHAcode, as well as a preferred term, synonyms, classification level, typology, definition and
aligned with ICD-10, ICD-11, OMIM, UMLS, MeSH, MedDRA and GARD terminologies when relevant.

This tool allows users to search for rare clinical entity and find its references in the associated terminologies.

Three search options are possible:

Simple search. In the search bar, enter the ORPHAcode of the entity sought
Advanced search. Search by one or several fields: by label (preferred term or synonym fields), by terms (definition field). You can refine your query by selecting a terminology
using the drop-down menu and enter a reference in the dedicated field. An additional option can be combined to search by level of mapping relation
Multiple queries from a search file. This section allows you to retrieve a set of results from an input file in a format suitable for the tool

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.

Input file setup

To set up a valid input file, at least one field name and corresponding value(s) of interest must be set. Allowed field names, their description and expected values are described below:

Field name allowed	Description	Expected value
orphacode	Code that must match a rare disease ORPHAcode	A valid number
disorder name	Word(s) that should be contained in a rare disease preferred term.	String(s). Basic regex are allowed (e.g. marf)
disorder synonym	Word(s) that should be contained in a rare disease synonym.	String(s). Basic regex are allowed (e.g. hyperp*)
disorder definition	Word(s) that should be contained in a rare disease definition.	String(s). Basic regex are allowed (e.g. hydroxyl*)
reference db	A reference database a rare disease must match	One of the following: gard icd10 icd11 meddra mesh omim umls
reference code	Code corresponding to a specified database a rare disease must match	String. Basic regex are allowed (e.g. Q87 for ICD-10 reference database*
mapping level	Level at which a rare disease must match a reference database	One of the following: E BTNT NTBT ND W

Input file interpretation and resulting response

Let's consider the content of the input file example represented in the table below:

orphacode	disorder name	reference db	reference code	mapping level
		icd10	Q84.4	E
166024	marfan
				ND
		icd11	LD2*

Each row is converted into an advanced searched query. The meaning of the rows is "Retrieve mapping informations of rare disease(s) that have":

row 1: an ICD-10 code equals to Q87.4 with an Exact mapping level
row 2: an ORPHAcode equals to 166024
row 3: "marfan" term in its name
row 4: any references with an ND mapping level
row 5: an ICD-11 code starting with "LD2"

If a search is done with the above input file example, the output file corresponding to each query will be as follows:

in .xlsx output, row index 2 matches results from row 1 query
in .xlsx output, row indexes 3 to 5 match results from row 2 query
in .xlsx output, row indexes 6 to 20 match results from row 3 query
in .xlsx output, row indexes 21 to 90 match results from row 4 query
in .xlsx output, row indexes 91 to 161 match results from row 5 query

Choose a file…

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Warning

The information provided is based on published scientific articles.

Information in Orphanet is updated on a regular basis. It is possible that new discoveries are made in between updates and do not yet appear in the disease profile. The date of the last update is indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.

Information in Orphanet is not intended to replace professional health care. Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.

The portal for rare diseases and orphan drugs