Ataxia with tapetoretinal degeneration syndrome

disorder

SNOMED 783203003CUI C5190865

Overview

Ataxia with tapetoretinal degeneration 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.

Ataxia

Occasional (5-29%)HP:0001251

Cerebellar hypoplasia/atrophy

Occasional (5-29%)HP:0007360

Gait disturbance

Occasional (5-29%)HP:0001288

Impaired vision

Occasional (5-29%)HP:0000505

Intellectual impairment

Occasional (5-29%)HP:0100543

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Peripheral hypotonia

Occasional (5-29%)HP:0001252

Pigmentary retinal deposits

Occasional (5-29%)HP:0000580

Rod-cone dystrophy

Occasional (5-29%)HP:0000510

Related Conditions

Hereditary disorder of the visual system(parent)

Hereditary ataxia(parent)

Cerebellar ataxia(parent)

Chorioretinal degeneration(parent)

Atrophic retina(parent)

Peripheral retinal degeneration(parent)

Quick Facts

SNOMED CT: 783203003
UMLS CUI: C5190865
Fully Specified Name: Ataxia with tapetoretinal degeneration syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.