Dominant dystrophic epidermolysis bullosa with absence of skin

disorder

SNOMED 2689001CUI C0268371

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Blistering with sub-lamina densa plane of cleavage

HP:0033803

Bullae of oral mucosa

HP:0200097

Congenital localised absence of skin

HP:0007383

Dystrophic nails

HP:0008404

Fragile skin

HP:0001030

Skin bullae

HP:0008066

Related Conditions

Dominant dystrophic epidermolysis bullosa(parent)

Quick Facts

SNOMED CT: 2689001
UMLS CUI: C0268371
Fully Specified Name: Dominant dystrophic epidermolysis bullosa with absence of skin (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.