Torg-Winchester syndrome

Preferred Label : Torg-Winchester syndrome;

ICD-11 definition : Winchester syndrome is a hereditary disorder characterized by extremely short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes.;

Details

Origin ID

1076780824;

Currated CISMeF NLP mapping
- Multicentric Osteolysis, Nodulosis, and Arthropathy [NCIt concept]
- Multicentric osteolysis, nodulosis, and arthropathy [OMIM Phenotype]
- Multicentric osteolysis-nodulosis-arthropathy spectrum [ORDO Disease]
- Torg-Winchester syndrome [ORDO Disease]
- Winchester Syndrome [NCIt concept]
- Winchester syndrome [MeSH concept]
- Winchester syndrome (disorder) [SNOMED CT concept]
- osteolysis hereditary multicentric [MeSH Supplementary Concept]
- winchester syndrome [MeSH Supplementary Concept]

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