Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Arnold-Chiari malformation type I
Synonyms

Chiari malformation type 1

Arnold-Chiari malformation type 1

Chiari malformation type I

Definitions

A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.

ID

http://www.orpha.net/ORDO/Orphanet_268882

alternative_term

Chiari malformation type 1

Arnold-Chiari malformation type 1

Chiari malformation type I

definition

A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=268882

has_age_of_onset

Infancy

Neonatal

hasDbXref

UMLS:C0750929

ICD-10:Q07.0

OMIM:118420

ICD-11:LA07.4

MedDRA:10056944

label

Arnold-Chiari malformation type I

notation

ORPHA:268882

part_of

http://www.orpha.net/ORDO/Orphanet_268843

prefixIRI

ORDO:Orphanet_268882

prefLabel

Arnold-Chiari malformation type I

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_268843

subClassOf

http://www.orpha.net/ORDO/Orphanet_557493

http://www.orpha.net/ORDO/Orphanet_377791

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