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Spondyloepimetaphyseal dysplasia Missouri type
disorderSNOMED 719171005CUI C1865832
Overview
Spondyloepimetaphyseal dysplasia Missouri 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.
Bowed femura
Frequent (30-79%)HP:0002980
Irregular metaphyses
Frequent (30-79%)HP:0003025
Knee osteoarthritis
Frequent (30-79%)HP:0005086
Pear-shaped vertebrae
Frequent (30-79%)HP:0004566
Short lower limbs
Frequent (30-79%)HP:0006385
Short stature, severe disproportionate
Frequent (30-79%)HP:0003498
Thick growth plates
Frequent (30-79%)HP:0025369
Coxa vara
HP:0002812
Delayed skeletal development
HP:0002750
Flared iliac wings
HP:0002869
Flared, irregular rib ends
HP:0006603
Flat end part of bone
HP:0003071
Flattened vertebral bodies
HP:0000926
Genua vara
HP:0002970
Irregular sclerotic endplates
HP:0008476
Limited forearm extension
HP:0001377
Metaphyseal cupping
HP:0003021
Osteoarthritis
HP:0002758
Radial bowing
HP:0002986
Rhizomelic limb shortening
HP:0008905
Small epiphyses
HP:0010585
Splayed metaphyses
HP:0003015
Spondyloepimetaphyseal dysplasia
HP:0002651
Tibial bowing
HP:0002982
Ulnar bowing
HP:0003031
Waddling gait
HP:0002515
Quick Facts
- SNOMED CT
- 719171005
- UMLS CUI
- C1865832
- Fully Specified Name
- Spondyloepimetaphyseal dysplasia Missouri type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.