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Mondo Disease Ontology
| Preferred Name | West syndrome | |
| Synonyms |
West's syndrome tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG X-linked infantile spasms Infantile spasms syndrome X-linked infantile spasm syndrome intellectual disability-hypsarrhythmia syndrome infantile spasms |
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| Definitions |
West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. Editor note: check placement of OMIM IDs and EIEE subtypes |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0018097 |
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| comment |
Editor note: check placement of OMIM IDs and EIEE subtypes
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| database_cross_reference |
NANDO:1200592 ICD9:348.89 icd11.foundation:1023597213 UMLS:C0037769 MEDGEN:11519 NORD:1848 SCTID:28055006 DOID:0050562 ICD9:345.60 NCIT:C84788 MedDRA:10021750 Orphanet:3451 GARD:7887 NANDO:2200878
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|
| definition |
West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.
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| has_exact_synonym |
intellectual disability-hypsarrhythmia syndrome infantile spasms
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| has_related_synonym |
West's syndrome tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG X-linked infantile spasms Infantile spasms syndrome X-linked infantile spasm syndrome
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| IAO_0000233 | ||
| id |
MONDO:0018097
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_clinical_syndrome http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
West syndrome
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|
| notation |
MONDO:0018097
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| prefLabel |
West syndrome
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| seeAlso |
https://www.epilepsydiagnosis.org/syndrome/west-syndrome-overview.html |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1023597213 http://purl.obolibrary.org/obo/DOID_0050562 http://purl.obolibrary.org/obo/NCIT_C84788 http://linkedlifedata.com/resource/umls/id/C0037769 http://purl.obolibrary.org/obo/Orphanet_3451 |
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| treeView |
http://purl.obolibrary.org/obo/MONDO_0100022 |
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| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100022 |
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