Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome

disorder

SNOMED 723621000CUI C4509974

Overview

Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome 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.

Infantile sensorineural hearing impairment

Frequent (30-79%)HP:0008610

Intellectual disability, profound

Frequent (30-79%)HP:0002187

Loss of milestones

Frequent (30-79%)HP:0002376

Rod-cone dystrophy

Frequent (30-79%)HP:0000510

Severely impaired vision

Frequent (30-79%)HP:0001141

Related Conditions

Spastic tetraplegia(parent)

Autosomal recessive retinitis pigmentosa(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 723621000
UMLS CUI: C4509974
Fully Specified Name: Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 5

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.