National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Rare Disorder

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4873

code

C4873

DEFINITION

A disease that affects fewer than 200,000 people in the United States.

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 Diseases

Rare Disease

label

Rare Disorder

Legacy_Concept_Name

Rare_Disorder

Preferred_Name

Rare Disorder

prefixIRI

C4873

prefLabel

Rare Disorder

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0678236

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991

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http://purl.bioontology.org/ontology/OMIM/MTHU010026 Online Mendelian Inheritance in Man LOOM