Congenital junctional epidermolysis bullosa

disorder

SNOMED 79855003CUI C0079301

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.

Alopecia areata

Always present (100%)HP:0002232

Junctional split

Always present (100%)HP:0003341

Rotting teeth

Always present (100%)HP:0000670

Abnormal oral mucosa morphology

Very frequent (80-99%)HP:0011830

Blister

Very frequent (80-99%)HP:0008066

Enamel, underdeveloped

Very frequent (80-99%)HP:0006297

Fragile skin

Very frequent (80-99%)HP:0001030

Growth deficiency

Very frequent (80-99%)HP:0001510

Hypoplastic dermoepidermal hemidesmosomes

Very frequent (80-99%)HP:0020117

Nail disease

Very frequent (80-99%)HP:0001597

Poor weight gain

Very frequent (80-99%)HP:0001508

Skin erosion

Very frequent (80-99%)HP:0200041

Skin infections, recurrent

Very frequent (80-99%)HP:0001581

Skin plaque

Very frequent (80-99%)HP:0200035

Abnormal fingertip morphology

Frequent (30-79%)HP:0001211

Anonychia

Frequent (30-79%)HP:0001798

Erosion of oral mucosa

Frequent (30-79%)HP:0031446

Husky voice

Frequent (30-79%)HP:0001609

Low number of red blood cells or hemoglobin

Frequent (30-79%)HP:0001903

Malnutrition

Frequent (30-79%)HP:0004395

Panting

Frequent (30-79%)HP:0002094

Paronychia

Frequent (30-79%)HP:0001818

Stridor

Frequent (30-79%)HP:0010307

Abnormality of ion homeostasis

Occasional (5-29%)HP:0003111

Abnormality of the bladder

Occasional (5-29%)HP:0000014

Abnormality of the upper respiratory tract

Occasional (5-29%)HP:0002087

Absent/small bladder

Occasional (5-29%)HP:0010476

Aplasia cutis congenita

Occasional (5-29%)HP:0001057

Constipation

Occasional (5-29%)HP:0002019

Cornela disease

Occasional (5-29%)HP:0000481

Related Conditions

Congenital junctional epidermolysis bullosa-pyloric atresia syndrome(child)

Laryngo-onycho-cutaneous syndrome(child)

Junctional epidermolysis bullosa(parent)

Quick Facts

SNOMED CT: 79855003
UMLS CUI: C0079301
Fully Specified Name: Congenital junctional epidermolysis bullosa (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.