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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...
• \Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Finding of coordination\Ataxia\Hereditary ataxia (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

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
5155235010	EAST (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402634015	A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402635019	A rare genetic disease characterised by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalised seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalaemic metabolic acidosis with hypomagnesaemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324613019	Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
5155235010	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
5402634015	A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402635019	A rare genetic disease characterised by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalised seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalaemic metabolic acidosis with hypomagnesaemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3450881001000115	EAST-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3450881001000115	EAST-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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