Localised non-Herlitz junctional epidermolysis bullosa

disorder

SNOMED 1254890002CUI C5700116

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.

Blister

Very frequent (80-99%)HP:0008066

Fragile skin

Very frequent (80-99%)HP:0001030

Abnormality of dental color

Frequent (30-79%)HP:0011073

Acral blistering

Frequent (30-79%)HP:0031045

Atrophic, patchy alopecia

Frequent (30-79%)HP:0004529

Decreased sexual hair

Frequent (30-79%)HP:0002225

Dystrophic nails

Frequent (30-79%)HP:0008404

Epidermal detachment

Frequent (30-79%)HP:0032156

Pitting of tooth enamel

Frequent (30-79%)HP:0009722

Sparse scalp, axillary, and pubic hair

Frequent (30-79%)HP:0002215

Thin dental enamel

Frequent (30-79%)HP:0006297

Aplasia cutis congenita

Occasional (5-29%)HP:0001057

Dystrophic fingernails

Occasional (5-29%)HP:0008391

Dystrophic toenails

Occasional (5-29%)HP:0001810

Hair loss on scalp from scarring condition

Occasional (5-29%)HP:0004552

Atypical scarring

Very rare (1-4%)HP:0000987

Limb joint contracture

Very rare (1-4%)HP:0003121

Milia

Very rare (1-4%)HP:0001056

Mitten deformity

Very rare (1-4%)HP:0004057

Related Conditions

Junctional epidermolysis bullosa non-Herlitz type(parent)

Quick Facts

SNOMED CT: 1254890002
UMLS CUI: C5700116
Fully Specified Name: Localized junctional epidermolysis bullosa non-Herlitz type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.