loading...| Preferred Name | Chiari malformation type I | |
| Synonyms |
Chiari malformation type 1 with syringomyelia Cm1 with syringomyelia Cm1 Arnold-Chiari malformation type I Arnold-Chiari malformation type 1 Chiari malformation type 1 Chiari malformation type I |
|
| Definitions |
Arnold-Chiari malformation type I is 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://purl.obolibrary.org/obo/MONDO_0007316 |
|
| database_cross_reference |
icd11.foundation:1383121646 UMLS:C0750929 Orphanet:268882 SCTID:253185002 MEDGEN:196689 OMIM:118420 MedDRA:10056944 GARD:9233 |
|
| definition |
Arnold-Chiari malformation type I is 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. |
|
| has_exact_synonym |
Arnold-Chiari malformation type I Arnold-Chiari malformation type 1 Chiari malformation type 1 Chiari malformation type I |
|
| has_related_synonym |
Chiari malformation type 1 with syringomyelia Cm1 with syringomyelia Cm1 |
|
| id |
MONDO:0007316 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_morphological_anomaly http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Chiari malformation type I |
|
| notation |
MONDO:0007316 |
|
| preferred label |
Chiari malformation type I |
|
| prefLabel |
Chiari malformation type I |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0750929 http://identifiers.org/medgen/196689 http://identifiers.org/snomedct/253185002 http://purl.obolibrary.org/obo/Orphanet_268882 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1383121646 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018075 |