Ehlers-Danlos syndrome, type 5

disorder

SNOMED 67202007CUI C0268341

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.

Abnormality of cardiovascular system morphology

Very frequent (80-99%)HP:0030680

Bruising susceptibility

Very frequent (80-99%)HP:0000978

Decreased body height

Very frequent (80-99%)HP:0004322

Gastro-esophageal reflux

Very frequent (80-99%)HP:0002020

Hernia

Very frequent (80-99%)HP:0100790

Inguinal hernia

Very frequent (80-99%)HP:0000023

Loose-jointedness

Very frequent (80-99%)HP:0001382

Skin hyperelasticity

Very frequent (80-99%)HP:0000974

Thin skin

Very frequent (80-99%)HP:0000963

Umbilical hernia

Very frequent (80-99%)HP:0001537

Related Conditions

Ehlers-Danlos syndrome(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 67202007
UMLS CUI: C0268341
Fully Specified Name: X-linked Ehlers-Danlos syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.