716706009: Female restricted epilepsy with intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Female restricted epilepsy with intellectual disability syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome

\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Female restricted epilepsy with intellectual disability syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Female restricted epilepsy with intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Female restricted epilepsy with intellectual disability syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Female restricted epilepsy with intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Female restricted epilepsy with intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Female restricted epilepsy with intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Female restricted epilepsy with intellectual disability syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Female restricted epilepsy with intellectual disability syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Female restricted epilepsy with intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Female restricted epilepsy with intellectual disability syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3307239012 Female restricted epilepsy with intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3307271017 Female restricted epilepsy with intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3307272012 A rare X-linked genetic epilepsy syndrome affecting females. The syndrome has characteristics of seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome. In families with this disease, male carriers are unaffected despite the X-linked inheritance. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Female restricted epilepsy with intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Female restricted epilepsy with intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Female restricted epilepsy with intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Female restricted epilepsy with intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Female restricted epilepsy with intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Female restricted epilepsy with intellectual disability syndrome	Is a	Epilepsy	true	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Some	2
Female restricted epilepsy with intellectual disability syndrome	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3307239012	Female restricted epilepsy with intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3307271017	Female restricted epilepsy with intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3307272012	A rare X-linked genetic epilepsy syndrome affecting females. The syndrome has characteristics of seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome. In families with this disease, male carriers are unaffected despite the X-linked inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core