Congenital pontocerebellar hypoplasia type 5

disorder

SNOMED 718607001CUI C1857762

Overview

Congenital pontocerebellar hypoplasia type 5 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.

Decreased size of cranium

HP:0000252

Epilepsy

HP:0001250

Olivopontocerebellar hypoplasia

HP:0006955

Related Conditions

Congenital pontocerebellar hypoplasia(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 718607001
UMLS CUI: C1857762
Fully Specified Name: Congenital pontocerebellar hypoplasia type 5 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 3

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.

Congenital pontocerebellar hypoplasia type 5 — Symptoms, Testing & Specialists | Ltrl | Ltrl