Cerebellum agenesis with hydrocephaly

disorder

SNOMED 715990006CUI C4274899

Overview

Cerebellum agenesis with hydrocephaly 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

Cerebellar agenesis

Very frequent (80-99%)HP:0012642

Lens opacities

Very frequent (80-99%)HP:0000518

Mental-retardation

Very frequent (80-99%)HP:0001249

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Related Conditions

Congenital hydrocephalus(parent)

Agenesis of cerebellum(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 715990006
UMLS CUI: C4274899
Fully Specified Name: Agenesis of cerebellum and hydrocephalus 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.