Rare Diseases API (ORPHAcode)API Maladies Rares (ORPHAcode)
API Maladies Rares (ORPHAcode)Rare Diseases API (ORPHAcode)
This API lists rare diseases, each associated with a definition, synonyms, and a classification, based on ORPHAcodes. It is published by Orphanet, the reference knowledge base on rare diseases, which provides an annual nomenclature pack to support implementation of ORPHAcodes in information systems. Access requires an API key. The dataset is intended for organizations and developers needing to integrate standardized rare disease terminology into health information systems, registries, or research tools, at the national (French) level.L'API Maladies Rares (ORPHAcode) liste les maladies rares, en y associant une définition, des synonymes et une classification. ### A quoi sert l'API ? Orphanet, base de connaissances des maladies rares, met à disposition un "pack nomenclature" annuel afin de permettre d'implémenter les ORPHAcodes…
Trust score
How is this computed?Weighted across five axes. Tap a ring for what it measures.
Data schema (29 fields)
| Field | Type | Description |
|---|---|---|
| lang | string | Language of the returned content.Language |
| orphacode | integer (int64) | Unique, time-stable numerical identifier assigned by Orphanet to a clinical entity.A unique and time-stable numerical identifier attributed randomly by the Orphanet database to each clinical entity upon its creation. |
| label | string | Synonym name of the clinical entity.Synonym of the clinical entity |
| icd10 | string | ICD-10 code associated with the entity.ICD10 code of entity |
| icd11 | string | ICD-11 code associated with the entity.ICD11 code of entity |
| hchid | integer (int32) | Unique, time-stable numerical identifier assigned by Orphanet to a classification.A unique and time-stable numerical identifier attributed randomly by the Orphanet database to each classification upon its creation. |
| omimcode | integer (int64) | Unique identifier of the concept in Online Mendelian Inheritance in Man (OMIM).Unique identifier of concepts in the Online Mendelian Inheritance in Man. |
| snomedcode | integer (int64) | SNOMED-CT code assigned to the entity.SNOMED-CT attributed code |
| codeErrorModel | integer (int32) | Numeric error code returned by the API.Numeric error code returned by the API. |
| messageErrorModel | string | Text message describing the error.Text message describing the error. |
| DateTargetEntity | string (date-time) | Date and time associated with the target entity record.Date and time associated with the target entity record. |
| ORPHAcodeTargetEntity | integer (int32) | ORPHAcode of the target clinical entity.ORPHAcode of the target clinical entity. |
| StatusTargetEntity | string | Current status of the target entity.Current status of the target entity. |
| RelationTargetEntity | string | Type of relation linking the entities.Type of relation linking the entities. |
| Target ORPHAcodeTargetEntity | integer (int32) | ORPHAcode of the related target entity.ORPHAcode of the related target entity. |
| Preferred termName | string | Preferred name of the clinical entity.Preferred name of the clinical entity. |
| Definition | string | Textual definition of the clinical entity.Textual definition of the clinical entity. |
| Synonym | array<string> | List of alternative names for the clinical entity.List of alternative names for the clinical entity. |
| ClassificationLevel | string | Level of the entity within a classification hierarchy.Level of the entity within a classification hierarchy. |
| Typology | string | Type category of the clinical entity.Type category of the clinical entity. |
| OrphanetURL | string | Link to the entity's page on the Orphanet website.Link to the entity's page on the Orphanet website. |
| ORPHAcodeAggregation | integer (int32) | ORPHAcode of the aggregated grouping entity.ORPHAcode of the aggregated grouping entity. |
| Code ICD10Entity_by_icd10 | string | ICD-10 code linked to the entity.ICD-10 code linked to the entity. |
| Code ICD11Entity_by_icd11 | string | ICD-11 code linked to the entity.ICD-11 code linked to the entity. |
| ReferencesEntity_by_icd11 | array<unknown> | External bibliographic or coding references for the entity.External bibliographic or coding references for the entity. |
| Classification | array<object> | List of classifications the entity belongs to.List of classifications the entity belongs to. |
| Parent | array<object> | List of parent entities in the classification hierarchy.List of parent entities in the classification hierarchy. |
| Child | array<object> | List of child entities in the classification hierarchy.List of child entities in the classification hierarchy. |
| Code OMIMFindbyOMIM | integer (int64) | OMIM code linked to the clinical entity.OMIM code linked to the clinical entity. |
Schema captured from openapi 26 days ago.
Verification Status
Using the API
Configuration
- Base URL
- https://api.orphacode.org
- Format
- openapi
Query examples
Stored only in this browser. Runs go directly from your browser to the API — the key is never sent through our servers.
curl -s 'https://api.orphacode.org/openapi.json' -H 'Accept: application/json'Machine-readable API description (use it to generate clients).
Machine-readable & source
Embed this badge in a README or wiki — it always shows the latest verification state and quality tier.