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Rare Disorder (CUI C0678236) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0678236

NCI Thesaurus Code: C4873  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

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

MEDLINEPLUS Definition: 

A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one.

Rare diseases

  • May involve chronic illness, disability, and often premature death
  • Often have no treatment or not very effective treatment
  • Are frequently not diagnosed correctly
  • Are often very complex
  • Are often caused by changes in genes

It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one.

NIH: National Institutes of Health

MSH Definition: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.

Synonyms & Abbreviations: (see Synonym Details)
Disease, Rare
Diseases, Rare
Rare Diseases [Disease/Finding]
Rare Diseases
rare disease
Rare Disorder
RARE DIS

External Source Codes: 
NCI Thesaurus Code C4873 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
AN coord with specific disease; index only when discussed as rare disease MSH
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
DATE_CREATED 12/02/1999 MEDLINEPLUS
DC 1 MSH
Design_Note 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. NCI
DID 2146-8713 CSP
DX 20030101 MSH
FX D009965 MSH
FX D058069 MSH
HN 2003 MSH
MDA 20020703 MSH
MESH_DEFINITION A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment. NDFRT
MESH_DUI D035583 NDFRT
MESH_NAME Rare Diseases NDFRT
MESH_UI M0407933 NDFRT
MMR 20100625 MSH
MN C23.550.291.906 MSH
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/rarediseases.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/rarediseases.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL NIH Office of Rare Diseases http://rarediseases.info.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000011102 NDFRT
PM 2003 MSH
RXAUI 3229044 RXNORM
RXAUI 3229045 RXNORM
RXCUI 1022366 RXNORM
TERMUI T474016 MSH
TH NLM (2003) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0678236

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