Preferred Name |
Rare Disorder |
|
Synonyms |
Rare Disorder Rare Disease Rare Diseases |
|
Definitions |
A non-neoplastic or neoplastic disorder that is uncommon. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4873 |
|
code |
C4873 |
|
DEFINITION |
A non-neoplastic or neoplastic disorder that is uncommon. |
|
DesignNote |
There are more than 5,000 rare disorders that, taken together, affect approximately 20 million Americans. One in every 12 individuals in this country has received a diagnosis of a rare disease. |
|
FULL_SYN |
Rare Disorder Rare Disease Rare Diseases |
|
label |
Rare Disorder |
|
Legacy Concept Name |
Rare_Disorder |
|
Preferred_Name |
Rare Disorder |
|
prefixIRI |
Thesaurus:C4873 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0678236 |
|
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/NCIT_C4873 | BERO | LOOM | |
http://www.limics.org/hrdo/rdfns#pat_id_20451 | HRDO | LOOM | |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Disorder | OPE | LOOM |