Agenesis of cerebellum

disorder

SNOMED 253172000CUI C0344488

Overview

Agenesis of cerebellum 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

Very frequent (80-99%)HP:0001251

Eye movement issue

Very frequent (80-99%)HP:0000496

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Abnormal vocalization

Frequent (30-79%)HP:0002167

Abnormality of movement

Frequent (30-79%)HP:0100022

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Big calvaria

Frequent (30-79%)HP:0000256

Decreased size of cranium

Frequent (30-79%)HP:0000252

Seizures

Frequent (30-79%)HP:0001250

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Related Conditions

Cerebellum agenesis with hydrocephaly(child)

Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome(child)

Aplasia of cerebellum(parent)

Quick Facts

SNOMED CT: 253172000
UMLS CUI: C0344488
Fully Specified Name: Agenesis of cerebellum (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.