Familial osteochondritis dissecans

disorder

SNOMED 715899006CUI C3665488

Overview

Familial osteochondritis dissecans 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.

Early bone maturation

Always present (100%)HP:0005616

Decreased body height

Very frequent (80-99%)HP:0004322

Brachydactyly

Frequent (30-79%)HP:0001156

Concave bridge of nose

Frequent (30-79%)HP:0005280

Hypertrophy of mandible

Frequent (30-79%)HP:0000303

Hypotrophic midface

Frequent (30-79%)HP:0011800

Thumb hypoplasia

Frequent (30-79%)HP:0009778

Osteochondritis dissecans

Occasional (5-29%)HP:0010886

Premature osteoarthritis

Occasional (5-29%)HP:0003088

Broad big toe

Very rare (1-4%)HP:0010055

Increased lumbar lordosis

Very rare (1-4%)HP:0002938

Formation of new noncancerous bone on top of existing bone

HP:0100777

Frontal protuberance

HP:0002007

Hip osteoarthritis

HP:0008843

Waddling gait

HP:0002515

Related Conditions

Autosomal dominant hereditary disorder(parent)

Osteochondritis dissecans(parent)

Hereditary disorder of musculoskeletal system(parent)

Familial disease(parent)

Quick Facts

SNOMED CT: 715899006
UMLS CUI: C3665488
Fully Specified Name: Familial osteochondritis dissecans (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.