784372002: Familial mesial temporal lobe epilepsy with febrile seizures (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Localisation-related epilepsy\Localisation-related symptomatic epilepsy\Temporal lobe epilepsy\Familial mesial temporal lobe epilepsy with febrile seizures
\Central nervous system finding\Finding of brain\Seizure\Febrile convulsion\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Localisation-related symptomatic epilepsy\Temporal lobe epilepsy\Familial mesial temporal lobe epilepsy with febrile seizures
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Localisation-related symptomatic epilepsy\Temporal lobe epilepsy\Familial mesial temporal lobe epilepsy with febrile seizures

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

\Finding of brain\Seizure\Seizure disorder\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Finding of brain\Seizure\Seizure disorder\Epilepsy\Localisation-related epilepsy\Localisation-related symptomatic epilepsy\Temporal lobe epilepsy\Familial mesial temporal lobe epilepsy with febrile seizures
\Finding of brain\Seizure\Febrile convulsion\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Finding of brain\Encephalopathy\Seizure disorder\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Localisation-related symptomatic epilepsy\Temporal lobe epilepsy\Familial mesial temporal lobe epilepsy with febrile seizures

\Finding of head region\Temporal lobe epilepsy\Familial mesial temporal lobe epilepsy with febrile seizures

\Disorder of head\Encephalopathy\Seizure disorder\...

\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures

\Epilepsy\Localisation-related epilepsy\Localisation-related symptomatic epilepsy\Temporal lobe epilepsy\Familial mesial temporal lobe epilepsy with febrile seizures

\General finding of observation of patient\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile illness\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\General finding of observation of patient\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile convulsion\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\General finding of observation of patient\General body state finding\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile illness\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\General finding of observation of patient\General body state finding\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile convulsion\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures

\Neurological finding\Seizure related finding\Seizure\...

\Seizure disorder\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Seizure disorder\Epilepsy\Localisation-related epilepsy\Localisation-related symptomatic epilepsy\Temporal lobe epilepsy\Familial mesial temporal lobe epilepsy with febrile seizures

\Febrile convulsion\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Familial mesial temporal lobe epilepsy with febrile seizures
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial mesial temporal lobe epilepsy with febrile seizures
\Disease\Febrile illness\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Familial mesial temporal lobe epilepsy with febrile seizures
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Familial mesial temporal lobe epilepsy with febrile seizures
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Localisation-related symptomatic epilepsy\Temporal lobe epilepsy\Familial mesial temporal lobe epilepsy with febrile seizures
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Localisation-related symptomatic epilepsy\Temporal lobe epilepsy\Familial mesial temporal lobe epilepsy with febrile seizures
\Disease\Familial disease\Familial febrile convulsions\Familial mesial temporal lobe epilepsy with febrile seizures

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3763836012 Familial mesial temporal lobe epilepsy with febrile seizures (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3763837015 Familial mesial temporal lobe epilepsy with febrile seizures en Synonym Active Case insensitive SNOMED CT core

3763838013 A rare genetic familial partial epilepsy disease with characteristics of simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedent history of febrile seizures, occurring in various members of a family. Hippocampal abnormalities (for example hippocampal sclerosis) may also be associated. There is evidence the disease is caused by homozygous mutation in the CPA6 gene on chromosome 8q13. en Definition Active Case sensitive SNOMED CT core

3763839017 A rare genetic familial partial epilepsy disease with characteristics of simple partial seizures, complex partial seizures and/or secondarily generalised seizures, originating from the inner aspect of the temporal lobe, associated with an antecedent history of febrile seizures, occurring in various members of a family. Hippocampal abnormalities (for example hippocampal sclerosis) may also be associated. There is evidence the disease is caused by homozygous mutation in the CPA6 gene on chromosome 8q13. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial mesial temporal lobe epilepsy with febrile seizures	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial mesial temporal lobe epilepsy with febrile seizures	Is a	Febrile convulsion	false	Inferred relationship	Some
Familial mesial temporal lobe epilepsy with febrile seizures	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Familial mesial temporal lobe epilepsy with febrile seizures	Is a	Familial disease	false	Inferred relationship	Some
Familial mesial temporal lobe epilepsy with febrile seizures	Is a	Febrile illness	false	Inferred relationship	Some
Familial mesial temporal lobe epilepsy with febrile seizures	Is a	Temporal lobe epilepsy	true	Inferred relationship	Some
Familial mesial temporal lobe epilepsy with febrile seizures	Associated with	Fever	false	Inferred relationship	Some	2
Familial mesial temporal lobe epilepsy with febrile seizures	Finding site	Temporal lobe structure	true	Inferred relationship	Some	1
Familial mesial temporal lobe epilepsy with febrile seizures	Is a	Familial febrile convulsions	true	Inferred relationship	Some
Familial mesial temporal lobe epilepsy with febrile seizures	Interprets	Body temperature	true	Inferred relationship	Some	2
Familial mesial temporal lobe epilepsy with febrile seizures	Has interpretation	Above reference range	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3763836012	Familial mesial temporal lobe epilepsy with febrile seizures (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3763837015	Familial mesial temporal lobe epilepsy with febrile seizures	en	Synonym	Active	Case insensitive	SNOMED CT core
3763838013	A rare genetic familial partial epilepsy disease with characteristics of simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedent history of febrile seizures, occurring in various members of a family. Hippocampal abnormalities (for example hippocampal sclerosis) may also be associated. There is evidence the disease is caused by homozygous mutation in the CPA6 gene on chromosome 8q13.	en	Definition	Active	Case sensitive	SNOMED CT core
3763839017	A rare genetic familial partial epilepsy disease with characteristics of simple partial seizures, complex partial seizures and/or secondarily generalised seizures, originating from the inner aspect of the temporal lobe, associated with an antecedent history of febrile seizures, occurring in various members of a family. Hippocampal abnormalities (for example hippocampal sclerosis) may also be associated. There is evidence the disease is caused by homozygous mutation in the CPA6 gene on chromosome 8q13.	en	Definition	Active	Case sensitive	SNOMED CT core