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Susac Syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Susac Syndrome
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Accession:EFO:1001856 term browser browse the term
Definition:Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.
Synonyms:exact_synonym: NCIT:C116363;   Orphanet:838;   RED-M;   Retinocochleocerebral Vasculopathy;   SICRET syndrome;   Susac's syndrome;   http://identifiers.org/medgen/439270;   http://identifiers.org/mesh/D055955;   http://identifiers.org/snomedct/702575003;   http://linkedlifedata.com/resource/umls/id/C2717757;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1292480458;   retinopathy-encephalopathy-deafness associated with microangiopathy;   small infarctions of cochlear, retinal and encephalic tissue
 synonym: http://identifiers.org/meddra/10071573
 related_synonym: SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome
 xref: DOID:9004457;   GARD:7713;   ICD9:348.39;   MEDGEN:439270;   MESH:D055955;   MONDO:0019390;   MedDRA:10071573;   NCI:C116363;   NORD:1747;   ORDO:838;   ORDO:Orphanet_838;   SCTID:702575003;   SNOMEDCT:702575003;   UMLS:C2717757;   Wikipedia:Susac's_syndrome;   icd11.foundation:1292480458
 see_also: https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome" xsd:anyURI {source="GARD:0007713

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