Rare Disorder - CISMeF

Preferred Label : Rare Disorder;

NCIt synonyms : Rare Disease; Rare Diseases;

NCIt definition : A non-neoplastic or neoplastic disorder that is uncommon.;

NCIt 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.;

Details

Origin ID

C4873;

UMLS CUI

C0678236;

Automatic exact mappings (from CISMeF team)
- Proximal myotonic myopathy (disorder) [SNOMED CT concept]
- Rare diseases [EDAM topic]
Currated CISMeF NLP mapping
- Rare disease [PASCAL descriptor]
- Rare disease [ORDO Disease]
- Rare disorder [ORDO Disease]
- Rare disorders [ORDO Disease]
- rare disease [Disease (Nov.)]
- rare diseases [MedlinePlus Topic]
- rare diseases [MeSH Descriptor]
- rare diseases [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rare disease [ORDO Disease]
- Rare disease [PASCAL descriptor]
- Rare disorder [ORDO Disease]
- Rare disorders [ORDO Disease]
- rare disease [Disease (Nov.)]
- rare diseases [MedlinePlus Topic]
- rare diseases [MeSH Descriptor]
- rare diseases [MeSH concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients