Overview
Hyaline fibromatosis syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Osteopenia
Always present (100%)HP:0000938
Osteoporosis
Always present (100%)HP:0000939
Arthralgias
Very frequent (80-99%)HP:0002829
Coarse face
Very frequent (80-99%)HP:0000280
Flexion contractures
Very frequent (80-99%)HP:0001371
Gum enlargement
Very frequent (80-99%)HP:0000212
Multiple, subcutaneous nodules
Very frequent (80-99%)HP:0001482
Diarrhea
Frequent (30-79%)HP:0002014
Hereditary gingival fibromatosis
Frequent (30-79%)HP:0000169
Low-set ears
Frequent (30-79%)HP:0000369
Pachydermia
Frequent (30-79%)HP:0001072
Poor weight gain
Frequent (30-79%)HP:0001508
Susceptibility to infection
Frequent (30-79%)HP:0002719
Thin face
Frequent (30-79%)HP:0000275
Breakdown of bone
HP:0002797
Dull intelligence
Excluded (<1%)HP:0001249
Progressive flexion contractures
HP:0005876
Quick Facts
- SNOMED CT
- 1197494003
- UMLS CUI
- C5574677
- Fully Specified Name
- Hyaline fibromatosis syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.