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Melorheostosis

disorder
SNOMED 44697002CUI C0025239

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.

Arthralgias
Very frequent (80-99%)HP:0002829
Bone overgrowth
Very frequent (80-99%)HP:0100774
Bone pain
Very frequent (80-99%)HP:0002653
Calcification of muscle tissue
Very frequent (80-99%)HP:0011987
Cranial nerve paralysis
Very frequent (80-99%)HP:0006824
Increased bone mineral density
Very frequent (80-99%)HP:0011001
Neurogenic muscle atrophy, especially in the lower limbs
Very frequent (80-99%)HP:0003202
Onset of lymphedema around puberty
Very frequent (80-99%)HP:0001004
Skeletal anomalies
Very frequent (80-99%)HP:0000924
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Stiff joint
Very frequent (80-99%)HP:0001387
Undergrowth
Very frequent (80-99%)HP:0001508
Left and right leg differ in length or width
Frequent (30-79%)HP:0100559
Unequal size of arms
Frequent (30-79%)HP:0100560
Atypical scarring
Occasional (5-29%)HP:0000987
Joint inflammation
Occasional (5-29%)HP:0001369
Peripheral arteriovenous fistula
Occasional (5-29%)HP:0100784

Quick Facts

SNOMED CT
44697002
UMLS CUI
C0025239
Fully Specified Name
Melorheostosis (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.