Severe generalized recessive dystrophic epidermolysis bullosa

disorder

SNOMED 723716009CUI C4510043

Overview

Severe generalized recessive 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.

Bullae of oral mucosa

Very frequent (80-99%)HP:0200097

Chronic pain

Very frequent (80-99%)HP:0012532

Flexion contractures

Very frequent (80-99%)HP:0001371

Fragile skin

Very frequent (80-99%)HP:0001030

Gastrointestinal inflammation

Very frequent (80-99%)HP:0004386

Growth deficiency

Very frequent (80-99%)HP:0001510

Low number of red blood cells or hemoglobin

Very frequent (80-99%)HP:0001903

Milia

Very frequent (80-99%)HP:0001056

Mitten deformity

Very frequent (80-99%)HP:0004057

Rotting teeth

Very frequent (80-99%)HP:0000670

Skin bullae

Very frequent (80-99%)HP:0008066

Thin, atrophic scars

Very frequent (80-99%)HP:0001075

Anomaly of scalp

Frequent (30-79%)HP:0001965

Anonychia

Frequent (30-79%)HP:0001798

Chronic cutaneous wound

Frequent (30-79%)HP:0032676

Depression

Frequent (30-79%)HP:0000716

Dystrophic nails

Frequent (30-79%)HP:0008404

Erosion of oral mucosa

Frequent (30-79%)HP:0031446

Excessive, persistent worry and fear

Frequent (30-79%)HP:0000739

Eye disease

Frequent (30-79%)HP:0000478

Generalized abnormality of skin

Frequent (30-79%)HP:0011354

Iron-deficiency anaemia

Frequent (30-79%)HP:0001891

Squamous cell carcinoma

Frequent (30-79%)HP:0002860

Abnormal serum selenium concentration

Occasional (5-29%)HP:0031903

Abnormality of vitamin metabolism

Occasional (5-29%)HP:0100508

Anal fissure

Occasional (5-29%)HP:0012390

CKD

Occasional (5-29%)HP:0012622

Congenital scars

Occasional (5-29%)HP:0001057

Corneal erosion

Occasional (5-29%)HP:0200020

Cutaneous melanoma

Occasional (5-29%)HP:0012056

Related Conditions

Recessive dystrophic epidermolysis bullosa(parent)

Generalized dystrophic epidermolysis bullosa(parent)

Quick Facts

SNOMED CT: 723716009
UMLS CUI: C4510043
Fully Specified Name: Severe generalized recessive dystrophic 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.