Winchester syndrome

disorder

SNOMED 254151006CUI C0432289

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Carpal bone osteolysis

Always present (100%)HP:0001495

Generalized osteoporosis with pathologic fractures

Always present (100%)HP:0040160

Hunched back

Always present (100%)HP:0002808

Tarsal bone osteolysis

Always present (100%)HP:0006234

Thickened facial skin with coarse facial features

Always present (100%)HP:0000280

Hirsutism

Frequent (30-79%)HP:0001007

Disease of the joints

HP:0003040

Multiple, subcutaneous nodules

Excluded (<1%)HP:0001482

Oral soft tissue hyperplasia

HP:0000212

Scarring or clouding of the cornea of the eye

Excluded (<1%)HP:0007957

Wide metacarpals

Excluded (<1%)HP:0001230

Related Conditions

Congenital anomaly of skeletal bone(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Genetic disease(parent)

Osteolysis(parent)

Quick Facts

SNOMED CT: 254151006
UMLS CUI: C0432289
Fully Specified Name: Winchester syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.