rare diseases - CISMeF

Preferred Label : rare diseases;

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.;

MeSH synonym : rare disease; disease, rare;

CISMeF synonym : diseases, rare;

MeSH hyponym : orphan diseases; Disease, Orphan; Diseases, Orphan; Orphan Disease;

MeSH annotation : coord with specific disease; index only when discussed as rare disease; coordinate with specific disease; index only when discussed as rare disease;

Wikipedia link : https://en.wikipedia.org/wiki/Rare disease;

Details

Origin ID

D035583;

UMLS CUI

C0678236;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Orphan disease [PASCAL descriptor]
- Proximal myotonic myopathy (disorder) [SNOMED CT concept]
- Rare diseases [EDAM topic]
Currated CISMeF NLP mapping
- Rare Disorder [NCIt concept]
- Rare disease [PASCAL descriptor]
- Rare disorders [ORDO Disease]
- rare disease [Disease (Nov.)]
- rare diseases [MedlinePlus Topic]
False automatic mappings
- Rare disease [ORDO Disease]
MedlinePlus topic(s)
- rare diseases [MedlinePlus Topic]
Record concept(s)
- orphan diseases [MeSH concept]
- rare diseases [MeSH concept]
See also
- Undiagnosed Diseases [MeSH Descriptor]
- delayed diagnosis [MeSH Descriptor]
- neglected diseases [MeSH Descriptor]
- orphan drug production [MeSH Descriptor]
See also inter- (CISMeF)
- Rare tumor [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rare Disorder [NCIt 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]

Keyword's position in hierarchy(ies) :

Main resources

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