Maffucci syndrome

disorder

SNOMED 46041001CUI C0024454

Overview

By MedlinePlus, National Library of Medicine

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

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

Occasional (5-29%)HP:0100021

Cranial nerve paralysis

Occasional (5-29%)HP:0006824

Deglutition disorder

Occasional (5-29%)HP:0002015

Increased fracture rate

Occasional (5-29%)HP:0002757

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

Poor growth

Occasional (5-29%)HP:0001510

Thyroid goiter

Occasional (5-29%)HP:0000853

Hemangiomata

HP:0001028

Pathologic fracture

HP:0002756

Related Conditions

Multiple enchondromata(parent)

Congenital hemangioma(parent)

Genetic disease(parent)

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.