Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration

disorder

SNOMED 715436007CUI C4275139

Overview

Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration 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.

Abnormal ERG

Very frequent (80-99%)HP:0000512

Ataxia

Very frequent (80-99%)HP:0001251

Intellectual impairment

Very frequent (80-99%)HP:0100543

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Optic atrophy

Very frequent (80-99%)HP:0000648

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Poor vision

Very frequent (80-99%)HP:0000505

Retinal pigmentary anomaly

Very frequent (80-99%)HP:0007703

Small cerebellum

Very frequent (80-99%)HP:0001321

Related Conditions

Congenital cerebellar hypoplasia(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 715436007
UMLS CUI: C4275139
Fully Specified Name: Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (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.