Multiple epiphyseal dysplasia due to collagen 9 anomaly

disorder

SNOMED 766717008CUI C4707798

Overview

Multiple epiphyseal dysplasia due to collagen 9 anomaly 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.

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Hip arthralgia

Frequent (30-79%)HP:0003365

Knee pain

Frequent (30-79%)HP:0030839

Postexertional malaise

Frequent (30-79%)HP:0030973

Reduced arm span

Frequent (30-79%)HP:0012770

Short limbs

Frequent (30-79%)HP:0009826

Abnormal kneecap

Occasional (5-29%)HP:0003045

Abnormality of end part of the elbow bone

Occasional (5-29%)HP:0003946

Abnormality of radial epiphyses

Occasional (5-29%)HP:0003999

Abnormality of the ankle

Occasional (5-29%)HP:0003028

Abnormality of the epiphyses of the feet

Occasional (5-29%)HP:0010631

Abnormality of the knee

Occasional (5-29%)HP:0002815

Bilateral coxa valga

Occasional (5-29%)HP:0010665

Coxa vara

Occasional (5-29%)HP:0002812

Decreased body height

Occasional (5-29%)HP:0004322

Fragmentation of the metacarpal epiphyses

Occasional (5-29%)HP:0009189

Genu valga

Occasional (5-29%)HP:0002857

Genua vara

Occasional (5-29%)HP:0002970

Osteoarthritis

Occasional (5-29%)HP:0002758

Radially deviated wrists

Occasional (5-29%)HP:0006190

Ulnar deviated club hands

Occasional (5-29%)HP:0006055

Waddling gait

Occasional (5-29%)HP:0002515

Muscle weakness

Very rare (1-4%)HP:0001324

Myopathy

Very rare (1-4%)HP:0003198

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple epiphyseal dysplasia(parent)

Quick Facts

SNOMED CT: 766717008
UMLS CUI: C4707798
Fully Specified Name: Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.