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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

\Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\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 of brain\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

\Disorder of head\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\Hearing loss\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\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\Hereditary disorder of the urinary system\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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\Hereditary disorder of the urinary system\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of body system\Hereditary disorder by system\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\Hearing loss\Sensorineural hearing loss\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome

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

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 SNOMED CT core module

3324614013 Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3331178012 SESAME syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3332064010 SESAME (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

5155235010 EAST (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Ataxia	false	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Renal tubular disorder	true	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Seizure disorder	true	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Finding site	Renal tubule structure	true	Inferred relationship	Existential restriction modifier	2
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	4
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Has definitional manifestation	Seizure	false	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	5
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Interprets	Functional observable	false	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	7
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
3324614013	Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3331178012	SESAME syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3332064010	SESAME (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5155235010	EAST (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module