Overview
Dysplasia epiphysealis hemimelica 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
Bone pain
Very frequent (80-99%)HP:0002653
Dropped arches
Very frequent (80-99%)HP:0001763
Early bone maturation
Very frequent (80-99%)HP:0005616
Formation of new noncancerous bone on top of existing bone
Very frequent (80-99%)HP:0100777
Irregular end part of long bone
Very frequent (80-99%)HP:0010582
Osteoarthritis
Very frequent (80-99%)HP:0002758
Stiff joint
Very frequent (80-99%)HP:0001387
Tarsal bone synostosis
Very frequent (80-99%)HP:0008368
Uneven or disproportionate growth of one body part compared to another
Very frequent (80-99%)HP:0100555
Genu valga
Frequent (30-79%)HP:0002857
Genua vara
Frequent (30-79%)HP:0002970
Abnormality of the femoral neck
Occasional (5-29%)HP:0003367
Abnormality of the thighbone
Occasional (5-29%)HP:0002823
Flat head of thigh bone
Occasional (5-29%)HP:0008812
Increased fracture rate
Occasional (5-29%)HP:0002757
Generalised overgrowth
HP:0001548
Skeletal anomalies
HP:0000924
Related Conditions
Fibrous dysplasia of bone(parent)
Disorganised development of cartilaginous and fibrous components of the skeleton(parent)
Osteochondropathy(parent)
Connective tissue hereditary disorder(parent)
Disorder of epiphysis(parent)
Hereditary disorder of musculoskeletal system(parent)
Autosomal dominant hereditary disorder(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 205480005
- UMLS CUI
- C0432282
- Fully Specified Name
- Dysplasia epiphysealis hemimelica (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.