SeSAME syndrome

Preferred Label : SeSAME syndrome;

MeSH synonym : epilepsy, ataxia, sensorineural deafness and tubulopathy; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; EAST syndrome; seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; epilepsy, ataxia, sensorineural deafness, and tubulopathy;

Details

Origin ID

C557674;

UMLS CUI

C2748572;

Automatic exact mappings (from CISMeF team)
- SeSAME syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- EAST syndrome [DO Concept]
- EAST syndrome [ORDO Disease]
- Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome (disorder) [SNOMED CT concept]
- Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) [SNOMED CT concept]
- Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance [OMIM Phenotype]
DO Cross reference
- EAST syndrome [DO Concept]
MeSH term(s) associated for indexing
- hearing loss, sensorineural [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- seizures [MeSH Descriptor]
Record concept(s)
- SeSAME syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- EAST syndrome [ORDO Disease]
- EAST syndrome [DO Concept]
- Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome (disorder) [SNOMED CT concept]
- Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) [SNOMED CT concept]
- Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance [OMIM Phenotype]

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