Epidermolysis bullosa simplex with pyloric atresia

disorder

SNOMED 716701004CUI C2677349

Overview

Epidermolysis bullosa simplex with pyloric atresia 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.

Big calvaria

Always present (100%)HP:0000256

Enophthalmos

Always present (100%)HP:0000490

Nostrils anteverted

Always present (100%)HP:0000463

Small nasal alae

Always present (100%)HP:0000430

Abdominal swelling

Frequent (30-79%)HP:0003270

Abnormality of the urinary system

Frequent (30-79%)HP:0000079

Blister

Frequent (30-79%)HP:0008066

Bullae of oral mucosa

Frequent (30-79%)HP:0200097

Congenital pyloric atresia

Frequent (30-79%)HP:0004399

Congenital scars

Frequent (30-79%)HP:0001057

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

Fragile skin

Frequent (30-79%)HP:0001030

Junctional split

Frequent (30-79%)HP:0003341

Skin erosion

Frequent (30-79%)HP:0200041

Skin fragility with non-scarring blistering

Frequent (30-79%)HP:0007585

Vomiting

Frequent (30-79%)HP:0002013

Absent bladder

Occasional (5-29%)HP:0010477

Aplasia cutis congenita on trunk or limbs

Occasional (5-29%)HP:0007589

Dysplastic kidneys

Occasional (5-29%)HP:0000110

Dystrophic nails

Occasional (5-29%)HP:0008404

Extra kidney

Occasional (5-29%)HP:0000075

Flexion contractures

Occasional (5-29%)HP:0001371

Glomerulosclerosis

Occasional (5-29%)HP:0000096

Hair loss on scalp from scarring condition

Occasional (5-29%)HP:0004552

Hydramnios

Occasional (5-29%)HP:0001561

Hydronephrosis

Occasional (5-29%)HP:0000126

Microtia

Occasional (5-29%)HP:0008551

Milia

Occasional (5-29%)HP:0001056

Muscle biopsy shows dystrophic changes

Occasional (5-29%)HP:0003560

Scalp aplasia cutis congenita

Occasional (5-29%)HP:0007385

Related Conditions

Pyloric atresia(parent)

Digestive system hereditary disorder(parent)

Autosomal recessive epidermolysis bullosa simplex(parent)

Quick Facts

SNOMED CT: 716701004
UMLS CUI: C2677349
Fully Specified Name: Epidermolysis bullosa simplex co-occurrent with pyloric atresia (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.