Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Blood clot in vein
Very frequent (80-99%)HP:0004936
Breakdown of bone
Very frequent (80-99%)HP:0002797
Hemangiomatosis
Very frequent (80-99%)HP:0007461
Multiple enchondromatosis
Very frequent (80-99%)HP:0005701
Bone pain
Frequent (30-79%)HP:0002653
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased body height
Frequent (30-79%)HP:0004322
Formation of new noncancerous bone on top of existing bone
Frequent (30-79%)HP:0100777
Multiple, subcutaneous nodules
Frequent (30-79%)HP:0001482
Astrocytoma
Occasional (5-29%)HP:0009592
Breast carcinoma
Occasional (5-29%)HP:0003002
Cancer of connective tissue
Occasional (5-29%)HP:0100242
Chondrosarcoma
Occasional (5-29%)HP:0006765
CP
Occasional (5-29%)HP:0100021
Cranial nerve paralysis
Occasional (5-29%)HP:0006824
Deglutition disorder
Occasional (5-29%)HP:0002015
Frequent fractures
Occasional (5-29%)HP:0002757
Growth failure
Occasional (5-29%)HP:0001510
Neoplasm of the adrenal cortex
Occasional (5-29%)HP:0100641
Neoplasm of the parathyroid gland
Occasional (5-29%)HP:0100733
Ovarian neoplasm
Occasional (5-29%)HP:0100615
Parathyroid adenomas
Occasional (5-29%)HP:0002897
Pituitary adenoma
Occasional (5-29%)HP:0002893
Thyroid goiter
Occasional (5-29%)HP:0000853
Hemangiomata
HP:0001028
Pathologic fracture
HP:0002756
Quick Facts
- SNOMED CT
- 46041001
- UMLS CUI
- C0024454
- Fully Specified Name
- Maffucci syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.