This page lists UMLS Metathesaurus data elements and traces them back to the specific source data that populates them.
VSAB:ORPHANET_2023_07
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 |
Identifier | Origin |
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CODE | tag = "OrphaCode" |
SAUI | Not Applicable |
SCUI | Same as CODE |
SDUI | Not Applicable |
Term Type | Origin |
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PT | CODE: tag = "OrphaCode" STR: tag = "Name" SCUI: tag = "OrphaCode" TTY = "PT" is assigned to the value of tag = "Name" in reocrds where "Totalstatus" is not "Active". |
SY | CODE: tag = "OrphaCode" STR: tag = "Synonym" SCUI: tag = "id" TTY = "SY" is assigned to active records. |
REL | RELA Inverse RELA |
ORIGIN |
---|---|---|
CHD PAR |
isa inverse_isa |
Hierarchy created from the ClassificationNodeChildList values in the ORPHAclassification_*_en.xml files. An OrphaCode may be present in one or more classification file. |