Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Blister
Always present (100%)HP:0008066
Blistering with sub-lamina densa plane of cleavage
Always present (100%)HP:0033803
Bullae of oral mucosa
Always present (100%)HP:0200097
Thin, atrophic scars
Always present (100%)HP:0001075
Abnormal oesophagus morphology
HP:0002031
Constipation
HP:0002019
Corneal scarring
HP:0000559
Deglutition disorder
HP:0002015
Dystrophic nails
HP:0008404
Esophageal stricture
HP:0002043
Flexion contractures
HP:0001371
Fragile skin
HP:0001030
Growth deficiency
HP:0001510
Hair loss
HP:0001596
Lens opacities
HP:0000518
Low number of red blood cells or hemoglobin
HP:0001903
Malnutrition
HP:0004395
Milia
HP:0001056
Mitten deformity
HP:0004057
Nail dysplasia
HP:0002164
Narrow mouth
HP:0000160
Pink eye
HP:0000509
Spontaneous esophageal perforation
HP:0005203
Squamous cell cancer
HP:0002860
Thin dental enamel
HP:0006297
Related Conditions
Localised recessive dystrophic epidermolysis bullosa(child)
Generalised recessive dystrophic epidermolysis bullosa mitis(child)
Goldscheider's disease(child)
Severe generalized recessive dystrophic epidermolysis bullosa(child)
Centripetalis recessive dystrophic epidermolysis bullosa(child)
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type(child)
Recessive hereditary disorder (autosomal)(parent)
Dystrophic epidermolysis bullosa(parent)
Quick Facts
- SNOMED CT
- 48528004
- UMLS CUI
- C0079474
- Fully Specified Name
- Recessive dystrophic epidermolysis bullosa (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.