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ORPHANET (ORPHANET) - Metathesaurus Representation


This page lists UMLS Metathesaurus data elements and traces them back to the specific source data that populates them.

VSAB:ORPHANET_2023_07


Summary of Changes

There were no changes to the source data format or to Metathesaurus source prcoessing.

Source-Provided Files: Summary

Data Files

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

Identifiers:

Identifiers are assigned as follows:
Identifier Origin
CODE tag = "OrphaCode"
SAUI Not Applicable
SCUI Same as CODE
SDUI Not Applicable

Atoms (MRCONSO):

Term Type Origin
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.

Attributes (MRSAT):

There are no ORPHANET attributes represented in the UMLS Metathesaurus.

Definitions (MRDEF):


Definitions are created from "Definition" data in the xml file


Relationships (MRREL):

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.

Mappings (MRMAP):


No mappings are represented for ORPHANET.