Junctional epidermolysis bullosa non-Herlitz type

disorder

SNOMED 724225008CUI C0268374

Overview

Junctional epidermolysis bullosa non-Herlitz 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.

Abnormal blistering of the skin

Always present (100%)HP:0008066

Alopecia areata

Always present (100%)HP:0002232

Dental cavities

Always present (100%)HP:0000670

Dystrophic nails

Always present (100%)HP:0008404

Enamel, underdeveloped

Always present (100%)HP:0006297

Bullae of oral mucosa

HP:0200097

Fragile nails

HP:0001808

Missing between one and six teeth

HP:0000668

Palmar hyperhidrosis

HP:0006089

Plantar hyperkeratosis

HP:0007556

Proximal interphalangeal finger joint contractures

HP:0100490

Related Conditions

Junctional epidermolysis bullosa mitis(child)

Localised non-Herlitz junctional epidermolysis bullosa(child)

Junctional epidermolysis bullosa(parent)

Quick Facts

SNOMED CT: 724225008
UMLS CUI: C0268374
Fully Specified Name: Junctional epidermolysis bullosa non-Herlitz type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.