Dystrophic epidermolysis bullosa inverse type

disorder

SNOMED 403809003CUI C1275113

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.

Fragile skin

Very frequent (80-99%)HP:0001030

Abnormality of the urinary system

Frequent (30-79%)HP:0000079

Anonychia

Frequent (30-79%)HP:0001798

Blister

Frequent (30-79%)HP:0008066

Bullae of oral mucosa

Frequent (30-79%)HP:0200097

Dental cavities

Frequent (30-79%)HP:0000670

Dystrophic nails

Frequent (30-79%)HP:0008404

Gastrointestinal inflammation

Frequent (30-79%)HP:0004386

Genital blistering

Frequent (30-79%)HP:0031464

Localised skin lesion

Frequent (30-79%)HP:0011355

Milia

Frequent (30-79%)HP:0001056

Thin, atrophic scars

Frequent (30-79%)HP:0001075

Esophageal stricture

Occasional (5-29%)HP:0002043

Low number of red blood cells or hemoglobin

Occasional (5-29%)HP:0001903

Mitten deformity

Occasional (5-29%)HP:0004057

Narrow ear canal

Occasional (5-29%)HP:0000402

Palmoplantar blistering

Occasional (5-29%)HP:0007446

Retarded growth

Occasional (5-29%)HP:0001510

Urethral stricture

Occasional (5-29%)HP:0012227

Vaginal stricture

Occasional (5-29%)HP:0025416

Related Conditions

Generalized dystrophic epidermolysis bullosa(parent)

Quick Facts

SNOMED CT: 403809003
UMLS CUI: C1275113
Fully Specified Name: Dystrophic epidermolysis bullosa inverse type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.