Overview
Hapnes Boman Skeie 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.
Lipomatosis
Very frequent (80-99%)HP:0001012
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Xanthomatosis
Very frequent (80-99%)HP:0000991
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Muscle wasting
Frequent (30-79%)HP:0003202
Osteoporosis
Frequent (30-79%)HP:0000939
Related Conditions
Autosomal dominant hereditary disorder(parent)
Congenital connective tissue disorder(parent)
Connective tissue hereditary disorder(parent)
Congenital anomaly of finger(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of muscle AND/OR tendon(parent)
Congenital malposition of digit(parent)
Developmental hereditary disorder(parent)
Disorder of extensor tendon of hand(parent)
Quick Facts
- SNOMED CT
- 782937006
- UMLS CUI
- C2931376
- Fully Specified Name
- Extensor tendons of finger anomalies (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 6
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.