721207002: Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\...
• \Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3324613019	Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324614013	Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331178012	SESAME syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332064010	SESAME (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3881201019	EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332065011	Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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