Terms & Properties

Preferred Name:  Winchester Syndrome

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.

Label:  Winchester Syndrome

NCI Thesaurus Code:  C170731 (Search for linked caDSR metadata)   (search value sets)

NCI Metathesaurus Link:  C4016688  (see NCI Metathesaurus info)

Synonyms & Abbreviations: (see Synonym Details)

Torg-Winchester Syndrome

Winchester Syndrome

WNCHRS

External Source Codes: 

UMLS CUI

C4016688

Other Properties:

Name	Value (qualifiers indented underneath)
code	C170731
Contributing_Source	Cellosaurus
Semantic_Type	Disease or Syndrome

Additional Concept Data: 

Defined Fully by Roles: No

URL:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C170731