Winchester Syndrome

Preferred Label : Winchester Syndrome;

NCIt synonyms : WNCHRS; Torg-Winchester Syndrome;

NCIt definition : An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis.;

Details

Origin ID

C170731;

UMLS CUI

C0432289;

Currated CISMeF NLP mapping
- Torg-Winchester syndrome [ICD-11 More detail]
- Winchester syndrome [PASCAL descriptor]
- Winchester syndrome [MeSH concept]
- Winchester syndrome [OMIM Phenotype]
- Winchester syndrome [MedDRA Preferred Term]
- Winchester syndrome [DO Concept]
- Winchester syndrome (disorder) [SNOMED CT concept]
- winchester syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Multicentric osteolysis, nodulosis, and arthropathy [OMIM Phenotype]
- Multicentric osteolysis-nodulosis-arthropathy spectrum [ORDO Disease]
- osteolysis hereditary multicentric [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Winchester syndrome [OMIM Phenotype]
- Winchester syndrome [MeSH concept]
- Winchester syndrome [MedDRA Preferred Term]
- Winchester syndrome (disorder) [SNOMED CT concept]
- winchester syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MMP14 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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