Hyaline fibromatosis syndrome

disorder

SNOMED 1197494003CUI C5574677

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

Related Conditions

Juvenile hyaline fibromatosis(child)

Infantile systemic hyalinosis(child)

Fibrous dysplasia of bone(parent)

Osteolysis(parent)

Genetic disease(parent)

Systemic disease affecting skin(parent)

Lesion of joint(parent)

Fibromatosis(parent)

Skin lesion(parent)

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.