SeSAME syndrome

Preferred Label : SeSAME syndrome;

ICD-11 definition : SeSAME syndrome is a genetic disorder characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).;

Details

Origin ID

781930640;

Automatic exact mappings (from CISMeF team)
- EAST syndrome [DO Concept]
- EAST syndrome [ORDO Disease]
- SeSAME syndrome [MeSH Supplementary Concept]
- SeSAME syndrome [MeSH 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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