This page lists specific source data elements and provides information on their representation in the UMLS Metathesaurus.
| File Name | Description |
|---|---|
| ORPHAnomenclature_en_YYYY.xml | Orphanet nomenclature file |
| ORPHAclassification_*_en.xml | Orphanet classification files by medical specialties. There are currently 34 classification files: ORPHAclassification_146_rare_cardiac_diseases_en.xml ORPHAclassification_147_rare_developmental_anomalies_during_embryogenesis_en.xml ORPHAclassification_148_rare_cardiac_malformations_en.xml ORPHAclassification_150_rare_inborn_errors_of_metabolism_en.xml ORPHAclassification_152_rare_gastroenterological_diseases_en.xml ORPHAclassification_156_rare_genetic_diseases_en.xml ORPHAclassification_181_rare_neurological_diseases_en.xml ORPHAclassification_182_rare_abdominal_surgical_diseases_en.xml ORPHAclassification_183_rare_hepatic_diseases_en.xml ORPHAclassification_184_rare_respiratory_diseases_en.xml ORPHAclassification_185_rare_urogenital_diseases_en.xml ORPHAclassification_186_rare_surgical_thoracic_diseases_en.xml ORPHAclassification_187_rare_skin_diseases_en.xml ORPHAclassification_188_rare_renal_diseases_en.xml ORPHAclassification_189_rare_ophthalmic_diseases_en.xml ORPHAclassification_193_rare_endocrine_diseases_en.xml ORPHAclassification_194_rare_hematological_diseases_en.xml ORPHAclassification_195_rare_immunological_diseases_en.xml ORPHAclassification_196_rare_systemic_and_rheumatological_diseases_en.xml ORPHAclassification_197_rare_odontological_diseases_en.xml ORPHAclassification_198_rare_circulatory_system_diseases_en.xml ORPHAclassification_199_rare_bone_diseases_en.xml ORPHAclassification_200_rare_otorhinolaryngological_diseases_en.xml ORPHAclassification_201_rare_infertility_disorders_en.xml ORPHAclassification_202_rare_neoplastic_diseases_en.xml ORPHAclassification_203_rare_infectious_diseases_en.xml ORPHAclassification_204_rare_diseases_due_to_toxic_effects_en.xml ORPHAclassification_205_rare_gynecological_and_obstetric_diseases_en.xml ORPHAclassification_209_rare_surgical_maxillo-facial_diseases_en.xml ORPHAclassification_212_rare_allergic_disease_en.xml ORPHAclassification_216_rare_teratologic_diseases_en.xml ORPHAclassification_231_rare_systemic_and_rheumatological_diseases_of_childhood_en.xml ORPHAclassification_233_rare_transplant-related_diseases_en.xml ORPHAclassification_235_rare_disorder_without_a_determined_diagnosis_after_full_investigation_en.xml |
| File Name | Tag | Description |
|---|---|---|
| ORPHAnomenclature_en.xml | Disorder Name | MRCONSO.STR; TTY = PT |
| ORPHAnomenclature_en.xml | Synonym | MRCONSO.STR; TTY = SY |
| ORPHAnomenclature_en.xml | OrphaCode | MRCONSO.CODE, MRCONSO.SCUI |
| ORPHAnomenclature_en.xml | Definition | MRDEF.DEF |
| ORPHAclassification_*_en | ClassificationNode (child) | Used to build the hierarchy for MRHIER.RRF and PAR/CHD rels for MRREL.RRF Note: OrphaCodes may be present in more than one classification file. Therefore, an OrphaCode may have different children in different parts of the hierarchy. |