Genochondromatosis type 1

disorder

SNOMED 1003427004CUI C5438970

Overview

Genochondromatosis type 1 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 clavicles

Very frequent (80-99%)HP:0000889

Abnormality of the knee

Very frequent (80-99%)HP:0002815

Multiple enchondromatosis

Very frequent (80-99%)HP:0005701

Related Conditions

Genochondromatosis(parent)

Connective tissue hereditary disorder(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 1003427004
UMLS CUI: C5438970
Fully Specified Name: Genochondromatosis type 1 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 3

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.