Autosomal recessive pseudoxanthoma elasticum

disorder

SNOMED 403812000CUI C0376359

Overview

By MedlinePlus, National Library of Medicine

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Retinal peau d'orange

Always present (100%)HP:0033027

Knapp streaks

Very frequent (80-99%)HP:0001102

Choroidal neovascular membrane

Frequent (30-79%)HP:0011506

Decreased DLCO

Frequent (30-79%)HP:0045051

Gastrointestinal haemorrhage

Frequent (30-79%)HP:0002239

Generalized elastolysis

Frequent (30-79%)HP:0000973

Poor vision

Frequent (30-79%)HP:0000505

Yellow papule

Frequent (30-79%)HP:0025507

Cerebral vascular events

Occasional (5-29%)HP:0001297

Decreased visual acuity

Occasional (5-29%)HP:0007663

High blood pressure

Occasional (5-29%)HP:0000822

Intermittent claudication

Occasional (5-29%)HP:0004417

Pigmented macular degeneration

Occasional (5-29%)HP:0000608

Renovascular hypertension

Occasional (5-29%)HP:0100817

Weak pulse

Occasional (5-29%)HP:0032553

Cardiac insufficiency

Very rare (1-4%)HP:0001635

Colloid bodies of Civatte

Very rare (1-4%)HP:0025115

Mitral valve prolapse

Very rare (1-4%)HP:0001634

Mitral valve stenosis

Very rare (1-4%)HP:0001718

Plaque build-up in arteries supplying blood to heart

Very rare (1-4%)HP:0001677

Restrictive cardiomyopathy

Very rare (1-4%)HP:0001723

Accelerated atherosclerosis

HP:0004943

Angina pectoris

HP:0001681

Optic nerve head drusen

HP:0012426

Retinal bleeding

HP:0000573

White oral mucosal macule

HP:0033026

Related Conditions

Inherited pseudoxanthoma elasticum(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 403812000
UMLS CUI: C0376359
Fully Specified Name: Autosomal recessive pseudoxanthoma elasticum (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.