Chiari malformation

disorder

SNOMED 253184003CUI C0003803

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Arc de cercle

HP:0002179

Ataxia

HP:0001251

Blue discoloration of the skin

HP:0000961

Bulbar signs

HP:0002483

Cervical myelopathy

HP:0002318

Chiari malformation

HP:0002308

Deglutition disorder

HP:0002015

Feeding difficulties

HP:0011968

Fluid-filled cyst in spinal cord

HP:0003396

Generalised decreased muscle tone

HP:0001290

Gray matter heterotopias

HP:0002282

Inspiratory stridor

HP:0005348

Involuntary, rapid, rhythmic eye movements

HP:0000639

Limb muscle weakness

HP:0003690

Myelomeningocele

HP:0002475

Nonsyndromal hydrocephalus

HP:0000238

Occipital neuralgia

HP:0012318

Peripheral hypotonia

HP:0001252

Split spine

HP:0002414

Related Conditions

Chiari malformation type I(child)

Chiari malformation type III(child)

Chiari malformation type IV(child)

Chiari malformation type II(child)

Closed spina bifida with Arnold-Chiari malformation(child)

Dysgenesis of the cerebellum(parent)

Cerebellar hernia(parent)

Quick Facts

SNOMED CT: 253184003
UMLS CUI: C0003803
Fully Specified Name: Chiari malformation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.