Ehlers-Danlos syndrome cardiac valvular type

disorder

SNOMED 720858001CUI C4303789

Overview

Ehlers-Danlos syndrome cardiac valvular type 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.

Joint ligamentous laxity

Very frequent (80-99%)HP:0001382

Mitral regurgitation, mild

Very frequent (80-99%)HP:0001653

Skin hyperelasticity

Very frequent (80-99%)HP:0000974

Valvular heart disease

Very frequent (80-99%)HP:0001654

Absent interphalangeal creases

Frequent (30-79%)HP:0006109

Aortic root dilatation

Frequent (30-79%)HP:0002616

Aortic valve regurgitation

Frequent (30-79%)HP:0001659

Back knee

Frequent (30-79%)HP:0002816

Bruising susceptibility

Frequent (30-79%)HP:0000978

Bunion

Frequent (30-79%)HP:0001822

Dropped arches

Frequent (30-79%)HP:0001763

Eye drop

Frequent (30-79%)HP:0000508

Genu valga

Frequent (30-79%)HP:0002857

Increased mobility of outermost hinge joint

Frequent (30-79%)HP:0006201

Inguinal hernia

Frequent (30-79%)HP:0000023

Joint dislocation

Frequent (30-79%)HP:0001373

Long fingers

Frequent (30-79%)HP:0100807

Near sighted

Frequent (30-79%)HP:0000545

Pectus excavatum

Frequent (30-79%)HP:0000767

Poor wound healing

Frequent (30-79%)HP:0001058

Soft, doughy skin

Frequent (30-79%)HP:0001027

Squint

Frequent (30-79%)HP:0000486

Thin skin

Frequent (30-79%)HP:0000963

Thin, atrophic scars

Frequent (30-79%)HP:0001075

Tooth mass arch size discrepancy

Frequent (30-79%)HP:0000678

Tricuspid regurgitation

Frequent (30-79%)HP:0005180

Atria septal defect

Occasional (5-29%)HP:0001631

Bulbous nasal tip

Occasional (5-29%)HP:0000414

Decreased body height

Occasional (5-29%)HP:0004322

Disproportionate tall stature

Occasional (5-29%)HP:0001519

Related Conditions

Cardiac valvular malformation(parent)

Recessive hereditary disorder (autosomal)(parent)

Cardiovascular system hereditary disorder(parent)

Ehlers-Danlos syndrome(parent)

Quick Facts

SNOMED CT: 720858001
UMLS CUI: C4303789
Fully Specified Name: Ehlers-Danlos syndrome cardiac valvular type (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.