Spondyloepiphyseal dysplasia Stanescu type

disorder

SNOMED 1228860003CUI C4225273

Overview

Spondyloepiphyseal dysplasia Stanescu type 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.

Arthralgias

Always present (100%)HP:0002829

Flattened vertebral bodies

Always present (100%)HP:0000926

Waddling gait

Always present (100%)HP:0002515

anterior wedging

Frequent (30-79%)HP:0008422

Decreased body height

Frequent (30-79%)HP:0004322

Internal tibial rotation

Frequent (30-79%)HP:0034372

Kyphoscoliosis

Frequent (30-79%)HP:0002751

Small wings of the pelvic girdle

Frequent (30-79%)HP:0000946

Stiff neck

Frequent (30-79%)HP:0025258

Valgus hip

Frequent (30-79%)HP:0002673

Limited mouth opening

Occasional (5-29%)HP:0000211

Beaking of vertebral bodies

HP:0004568

Spondyloepiphyseal dysplasia

HP:0002655

Stiff joint

HP:0001387

Related Conditions

Autosomal dominant hereditary disorder(parent)

Contracture of multiple joints(parent)

Degenerative polyarthritis(parent)

Spondyloepiphyseal dysplasia congenita(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Chronic arthropathy(parent)

Quick Facts

SNOMED CT: 1228860003
UMLS CUI: C4225273
Fully Specified Name: Spondyloepiphyseal dysplasia Stanescu type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.