PXE-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa

disorder

SNOMED 1220599002CUI C5680045

Overview

PXE-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa 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.

Difficulties with night vision

Always present (100%)HP:0000662

Hanging skin

Always present (100%)HP:0000973

Rod-cone dystrophy

Always present (100%)HP:0000510

Absent retinal pigment epithelium

Very frequent (80-99%)HP:0007980

Attenuation of retinal blood vessels

Very frequent (80-99%)HP:0007843

Increased number of skin folds

Very frequent (80-99%)HP:0007522

Loose redundant skin

Very frequent (80-99%)HP:0001582

optic nerve abnormalities

Very frequent (80-99%)HP:0000587

Papules

Very frequent (80-99%)HP:0200034

Squint

Very frequent (80-99%)HP:0000486

Abnormal fundus morphology

Frequent (30-79%)HP:0001098

Related Conditions

Autosomal recessive retinitis pigmentosa(parent)

Hereditary disorder of the integument(parent)

Disorder due to abnormality of dermal elastin(parent)

Quick Facts

SNOMED CT: 1220599002
UMLS CUI: C5680045
Fully Specified Name: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.