Generalised DDEB (generalised dystrophic epidermolysis bullosa)

disorder

SNOMED 1231284001CUI C0432322

Overview

Generalised DDEB (generalised dystrophic epidermolysis bullosa) 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.

Blistering with sub-lamina densa plane of cleavage

Always present (100%)HP:0033803

Atypical scarring

Very frequent (80-99%)HP:0000987

Skin bullae

Very frequent (80-99%)HP:0008066

Acral blistering

Frequent (30-79%)HP:0031045

Dystrophic nails

Frequent (30-79%)HP:0008404

Dystrophic toenails

Frequent (30-79%)HP:0001810

Fragile skin

Frequent (30-79%)HP:0001030

Milia

Frequent (30-79%)HP:0001056

Absent toenails (anonychia)

Occasional (5-29%)HP:0001802

Anonychia of fingernails

Occasional (5-29%)HP:0001817

Bullae of oral mucosa

Occasional (5-29%)HP:0200097

Dystrophic fingernails

Occasional (5-29%)HP:0008391

Erosion of oral mucosa

Occasional (5-29%)HP:0031446

Recurrent loss of toenails and fingernails

Occasional (5-29%)HP:0008390

Skin erosion

Occasional (5-29%)HP:0200041

Nail dysplasia

HP:0002164

Thin, atrophic scars

HP:0001075

Related Conditions

Autosomal dominant hereditary disorder(parent)

Generalized dystrophic epidermolysis bullosa(parent)

Quick Facts

SNOMED CT: 1231284001
UMLS CUI: C0432322
Fully Specified Name: Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.