Metachondromatosis

disorder

SNOMED 205481009CUI C0410530

Overview

Metachondromatosis 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.

Multiple exostoses

Always present (100%)HP:0002762

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Bone pain

Very frequent (80-99%)HP:0002653

Cranial nerve paralysis

Very frequent (80-99%)HP:0006824

Formation of new noncancerous bone on top of existing bone

Very frequent (80-99%)HP:0100777

Multiple enchondromatosis

Very frequent (80-99%)HP:0005701

Osteochondronecrosis

Very frequent (80-99%)HP:0010885

Abnormal shape of joints

HP:0001367

Bowed long bones

HP:0006487

Down-slanting palpebral fissure

Excluded (<1%)HP:0000494

Dull intelligence

Excluded (<1%)HP:0001249

Increased distance between eyes

Excluded (<1%)HP:0000316

Multiple digital exostoses

HP:0005655

Posteriorly angulated ears

Excluded (<1%)HP:0000358

Pterygium colli

Excluded (<1%)HP:0000465

Pulmonary stenosis

Excluded (<1%)HP:0001642

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Connective tissue hereditary disorder(parent)

Multiple enchondromata(parent)

Autosomal dominant hereditary disorder(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 205481009
UMLS CUI: C0410530
Fully Specified Name: Metachondromatosis (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.