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

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Female restricted epilepsy with intellectual disability syndrome (disorder)

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

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Female restricted epilepsy with intellectual disability syndrome (disorder)

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3307271017 Female restricted epilepsy with intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

4806081000052118 syndrom med epilepsi och intellektuell funktionsnedsättning hos kvinnor sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Female restricted epilepsy with intellectual disability syndrome (disorder)	Is a	Epilepsy	true	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome (disorder)	Finding site	Cerebrum	false	Inferred relationship	Some	2
Female restricted epilepsy with intellectual disability syndrome (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Female restricted epilepsy with intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Female restricted epilepsy with intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Female restricted epilepsy with intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Female restricted epilepsy with intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Female restricted epilepsy with intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Female restricted epilepsy with intellectual disability syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307271017	Female restricted epilepsy with intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4806081000052118	syndrom med epilepsi och intellektuell funktionsnedsättning hos kvinnor	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)