winchester syndrome

Preferred Label : winchester syndrome;

MeSH note : Short stature, severe joint contractures, peripheral corneal opacities, coarse facies, dissolution of carpal and tarsal bones, osteoporosis;

MeSH synonym : Winchester-Grossman disease; Winchester-Grossman syndrome; winchester disease;

Is substance : O;

Details

Origin ID

C536709;

UMLS CUI

C0432289;

Currated CISMeF NLP mapping
- Multicentric osteolysis-nodulosis-arthropathy spectrum [ORDO Disease]
- Torg-Winchester syndrome [ICD-11 More detail]
- Torg-Winchester syndrome [ORDO Disease]
- Winchester Syndrome [NCIt concept]
- Winchester syndrome [PASCAL descriptor]
- Winchester syndrome [OMIM Phenotype]
- Winchester syndrome [MedDRA Preferred Term]
- Winchester syndrome [DO Concept]
- Winchester syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- contracture [MeSH Descriptor]
- corneal opacity [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- osteolysis [MeSH Descriptor]
- osteoporosis [MeSH Descriptor]
Record concept(s)
- Winchester syndrome [MeSH concept]
See also inter- (CISMeF)
- Multicentric osteolysis, nodulosis, and arthropathy [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Winchester Syndrome [NCIt concept]
- Winchester syndrome [OMIM Phenotype]
- Winchester syndrome [MedDRA Preferred Term]
- Winchester syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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