werner syndrome

Preferred Label : werner syndrome;

MeSH definition : An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.;

MeSH synonym : progeria, adult; syndrome, werner; adult progeria; werners syndrome; werner's syndrome; syndrome, werner's; syndrome, werners; adult premature aging syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Werner syndrome;

Details

Origin ID

D014898;

UMLS CUI

C0043119;

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)
- WRN Gene [NCIt concept]
Currated CISMeF NLP mapping
- Werner Syndrome [NCIt concept]
- Werner syndrome [PASCAL descriptor]
- Werner syndrome [DO Concept]
- Werner syndrome [Disease (Nov.)]
- Werner syndrome [ICD-11 More detail]
- Werner syndrome [OMIM Phenotype]
- Werner syndrome [ORDO Disease]
- Werner syndrome (disorder) [SNOMED CT concept]
- Werner's syndrome [MedDRA Preferred Term]
- werner syndrome [SNOMED Notion]
DO Cross reference
- Werner syndrome [DO Concept]
Indexing information
- WRN protein, human [MeSH Supplementary Concept]
- WRN protein, rat [MeSH Supplementary Concept]
- transgelin [MeSH Supplementary Concept]
- wrn protein, mouse [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Atypical Werner syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Ectodermal malformation syndrome associated with ocular features [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Progeroid syndrome [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
ORDO relation(s)
- Werner syndrome [ORDO Disease]
Record concept(s)
- werner syndrome [MeSH concept]
See also
- RecQ helicases [MeSH Descriptor]
- progeria [MeSH Descriptor]
See also (suggested by CISMeF)
- Werner Syndrome Helicase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Werner Syndrome [NCIt concept]
- Werner syndrome [ORDO Disease]
- Werner syndrome [OMIM Phenotype]
- Werner syndrome [DO Concept]
- Werner syndrome [PASCAL descriptor]
- Werner syndrome [Disease (Nov.)]
- Werner syndrome (disorder) [SNOMED CT concept]
- Werner's syndrome [MedDRA Preferred Term]
- werner syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

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