Spondyloepimetaphyseal dysplasia Handigodu type

disorder

SNOMED 763885008CUI C3150545

Overview

Spondyloepimetaphyseal dysplasia Handigodu 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.

Hip arthralgia

Very frequent (80-99%)HP:0003365

Hip osteoarthritis

Very frequent (80-99%)HP:0008843

Limited hip movement

Very frequent (80-99%)HP:0008800

Abnormality of femoral head development

Frequent (30-79%)HP:0010575

Abnormality of the backbone

Frequent (30-79%)HP:0000925

Abnormally indented hip sockets

Frequent (30-79%)HP:0003179

Decreased body height

Frequent (30-79%)HP:0004322

Difficulty running

Frequent (30-79%)HP:0009046

Flattened vertebral bodies

Frequent (30-79%)HP:0000926

Flexion contractures of hips

Frequent (30-79%)HP:0003273

Gait disturbance

Frequent (30-79%)HP:0001288

Hump-shaped mound of bone in central and posterior portions of vertebral endplate

Frequent (30-79%)HP:0004594

Increased lumbar lordosis

Frequent (30-79%)HP:0002938

Partial hip dislocation

Frequent (30-79%)HP:0030043

Short-trunked dwarfism

Frequent (30-79%)HP:0003521

Skeletal anomalies

Frequent (30-79%)HP:0000924

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Abnormal hands

Occasional (5-29%)HP:0001155

Abnormality of the intervertebral disc

Occasional (5-29%)HP:0005108

Abnormality of the knee

Occasional (5-29%)HP:0002815

Broad femoral neck

Occasional (5-29%)HP:0006429

Broad radial metaphysis

Occasional (5-29%)HP:0004026

Coxa vara

Occasional (5-29%)HP:0002812

Flat head of thigh bone

Occasional (5-29%)HP:0008812

Hypoplastic femoral neck

Occasional (5-29%)HP:0100864

Pain under knee cap

Occasional (5-29%)HP:0030839

Short stature, severe

Occasional (5-29%)HP:0003510

Waddling gait

Occasional (5-29%)HP:0002515

Wide distal femoral metaphysis

Occasional (5-29%)HP:0006387

Related Conditions

Autosomal dominant hereditary disorder(parent)

Spondyloepimetaphyseal disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 763885008
UMLS CUI: C3150545
Fully Specified Name: Spondyloepimetaphyseal dysplasia Handigodu type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.