Junctional epidermolysis bullosa gravis of Herlitz

disorder

SNOMED 400140006CUI C0079683

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.

Junctional split

Always present (100%)HP:0003341

Abnormal nail morphology

Very frequent (80-99%)HP:0001597

Abnormal oral mucosa morphology

Very frequent (80-99%)HP:0011830

Blister

Very frequent (80-99%)HP:0008066

Enamel dysplasia

Very frequent (80-99%)HP:0006297

Fragile skin

Very frequent (80-99%)HP:0001030

Hypoplastic dermoepidermal hemidesmosomes

Very frequent (80-99%)HP:0020117

Retarded growth

Very frequent (80-99%)HP:0001510

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

Undergrowth

Very frequent (80-99%)HP:0001508

Abnormal fingertip morphology

Frequent (30-79%)HP:0001211

Anonychia

Frequent (30-79%)HP:0001798

Decreased haemoglobin

Frequent (30-79%)HP:0001903

Erosion of oral mucosa

Frequent (30-79%)HP:0031446

Husky voice

Frequent (30-79%)HP:0001609

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

Dehydration

Occasional (5-29%)HP:0001944

Dull burning sensation with urination

Occasional (5-29%)HP:0100518

Related Conditions

Generalized junctional epidermolysis bullosa(parent)

Quick Facts

SNOMED CT: 400140006
UMLS CUI: C0079683
Fully Specified Name: Junctional epidermolysis bullosa gravis of Herlitz (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.