Overview
Congenital generalised fibromatosis 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.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Bone cyst
Very frequent (80-99%)HP:0012062
Cancer of connective tissue
Very frequent (80-99%)HP:0100242
Fibroma
Very frequent (80-99%)HP:0010614
Muscular abnormality
Very frequent (80-99%)HP:0003011
Skin cancer (non-melanoma)
Very frequent (80-99%)HP:0008069
Subcutaneous nodule
Very frequent (80-99%)HP:0001482
Abnormality of the chest
Frequent (30-79%)HP:0000765
Abnormality of the hair shaft
Frequent (30-79%)HP:0001595
Abnormality of the intestine
Frequent (30-79%)HP:0002242
Abnormality of the skull bones
Frequent (30-79%)HP:0000929
Anomaly of the face
Frequent (30-79%)HP:0000271
Calcium deposits in joints
Frequent (30-79%)HP:0000934
Idiopathic gingival hyperplasia
Frequent (30-79%)HP:0000169
Lung tumor
Frequent (30-79%)HP:0100526
Abnormal connection between trachea and esophagus
Occasional (5-29%)HP:0002575
Abnormal eye
Occasional (5-29%)HP:0000478
Abnormality of the sacrum
Occasional (5-29%)HP:0005107
Benign neoplasm of the CNS
Occasional (5-29%)HP:0100835
Bowel obstruction
Occasional (5-29%)HP:0005214
Breakdown of bone
Occasional (5-29%)HP:0002797
Hypercalcemia
Occasional (5-29%)HP:0003072
increased risk of pancreatic cancer
Occasional (5-29%)HP:0002894
Irregular hyperpigmentation
Occasional (5-29%)HP:0007400
Limitation of joint mobility
Occasional (5-29%)HP:0001376
Open skin sore
Occasional (5-29%)HP:0200042
Paralysis or weakness of one side of body
Occasional (5-29%)HP:0004374
Renal anomalies
Occasional (5-29%)HP:0000077
Myofibromatosis
HP:0020135
Quick Facts
- SNOMED CT
- 254146000
- UMLS CUI
- C0432284
- Fully Specified Name
- Infantile myofibromatosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.