Epidermolysis bullosa simplex with muscular dystrophy

disorder

SNOMED 723308003CUI C2931072

Overview

Epidermolysis bullosa simplex with muscular dystrophy 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.

Dystrophic nails

Always present (100%)HP:0008404

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Intra-epidermal blistering

Always present (100%)HP:0033802

Motheaten muscle fibers

Always present (100%)HP:0100298

Muscle fiber splitting

Always present (100%)HP:0003555

Skin bullae

Always present (100%)HP:0008066

Difficulty finding words

Very frequent (80-99%)HP:0002381

Echologia

Very frequent (80-99%)HP:0010529

Extraocular muscle palsy

Very frequent (80-99%)HP:0000597

Eye muscle paralysis

Very frequent (80-99%)HP:0000602

Hair loss

Very frequent (80-99%)HP:0001596

Muscle flaccidity

Very frequent (80-99%)HP:0010547

Mutism

Very frequent (80-99%)HP:0002300

Myopathy

Very frequent (80-99%)HP:0003198

Oculomotor neuropathy

Very frequent (80-99%)HP:0012246

Skin vesicle

Very frequent (80-99%)HP:0200037

Small fingernail

Very frequent (80-99%)HP:0001804

Tubular fingernails

Very frequent (80-99%)HP:0001812

Aplasia/Hypoplasia of the skin

Frequent (30-79%)HP:0008065

Dystrophic tooth enamel

Frequent (30-79%)HP:0000682

Eyelid ptosis

Frequent (30-79%)HP:0000508

Papules

Frequent (30-79%)HP:0200034

Skin degeneration

Frequent (30-79%)HP:0004334

Fatigable weakness of limb muscles

Occasional (5-29%)HP:0003473

Tiredness

Occasional (5-29%)HP:0012378

Corneal inflammation

HP:0000491

Decreased body height

HP:0004322

Defective enamel matrix

HP:0006297

Hair loss on scalp from scarring condition

HP:0004552

Increased connective tissue

HP:0009025

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Basal epidermolysis bullosa simplex(parent)

Chronic skin disease(parent)

Congenital hereditary muscular dystrophy(parent)

Autosomal recessive epidermolysis bullosa simplex(parent)

Quick Facts

SNOMED CT: 723308003
UMLS CUI: C2931072
Fully Specified Name: Epidermolysis bullosa simplex with muscular dystrophy (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.