Epidermolysis bullosa simplex with hypodontia

disorder

SNOMED 254177003CUI C0432313

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.

Abnormal blistering of the skin

Very frequent (80-99%)HP:0008066

Abnormal tooth enamel

Very frequent (80-99%)HP:0000682

Abnormality of the fingernails

Very frequent (80-99%)HP:0001231

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Dental agenesis

Very frequent (80-99%)HP:0009804

Dysplastic fingernails

Very frequent (80-99%)HP:0100798

Hypoplastic toenails

Very frequent (80-99%)HP:0001800

Near sighted

Very frequent (80-99%)HP:0000545

Thinning scalp hair

Very frequent (80-99%)HP:0002209

Abnormal toenail development

Frequent (30-79%)HP:0100797

Abnormality of the face

Frequent (30-79%)HP:0000271

Cognitive deficits

Frequent (30-79%)HP:0100543

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Hair loss

Frequent (30-79%)HP:0001596

Lens dislocation

Frequent (30-79%)HP:0001083

Mandibular hyperplasia

Frequent (30-79%)HP:0000303

Fatigable weakness of limb muscles

Occasional (5-29%)HP:0003473

Hearing impairment

Occasional (5-29%)HP:0000365

Low number of red blood cells or haemoglobin

Occasional (5-29%)HP:0001903

Related Conditions

Epidermolysis bullosa simplex(parent)

Partial congenital absence of teeth(parent)

Developmental absence of tooth(parent)

Congenital absence of jaw(parent)

Congenital absence of mouth(parent)

Quick Facts

SNOMED CT: 254177003
UMLS CUI: C0432313
Fully Specified Name: Epidermolysis bullosa simplex with hypodontia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.