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Exostosis, anetoderma, brachydactyly type E syndrome
disorderSNOMED 733416004CUI C4518772
Overview
Exostosis, anetoderma, brachydactyly type E syndrome 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.
Aplasia/Hypoplasia of the skin
Very frequent (80-99%)HP:0008065
Flat, discolored area of skin
Very frequent (80-99%)HP:0012733
Multiple exostoses
Very frequent (80-99%)HP:0002762
Skin degeneration
Very frequent (80-99%)HP:0004334
Type E brachydactyly
Very frequent (80-99%)HP:0005863
Related Conditions
Disorganised development of cartilaginous and fibrous components of the skeleton(parent)
Connective tissue hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Osteochondropathy(parent)
Congenital anomaly of skeletal bone(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Congenital anomaly of skin(parent)
Atrophoderma maculatum(parent)
Quick Facts
- SNOMED CT
- 733416004
- UMLS CUI
- C4518772
- Fully Specified Name
- Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 5
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.