716706009: Protocadherin 19 clustering epilepsy (disorder)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\PCDH19 clustering epilepsy
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\PCDH19 clustering epilepsy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\PCDH19 clustering epilepsy

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\PCDH19 clustering epilepsy

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\PCDH19 clustering epilepsy
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\PCDH19 clustering epilepsy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\PCDH19 clustering epilepsy

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\PCDH19 clustering epilepsy
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\PCDH19 clustering epilepsy
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\PCDH19 clustering epilepsy

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\PCDH19 clustering epilepsy

\Disease\Genetic disease\Genetic intellectual disability\PCDH19 clustering epilepsy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\PCDH19 clustering epilepsy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PCDH19 clustering epilepsy
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\PCDH19 clustering epilepsy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\PCDH19 clustering epilepsy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\PCDH19 clustering epilepsy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\PCDH19 clustering epilepsy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\PCDH19 clustering epilepsy
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\PCDH19 clustering epilepsy
\Disease\Developmental disorder\Developmental hereditary disorder\PCDH19 clustering epilepsy

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 Inactive 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
5424916010 Protocadherin 19 clustering epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5424917018 PCDH19-CE - protocadherin 19 clustering epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5424918011 PCDH19 clustering epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5424919015 Protocadherin 19 clustering epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5424920014 Juberg-Hellman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5401378016 Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401379012 Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterised by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioural disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
PCDH19 clustering epilepsy	Is a	Epilepsy	true	Inferred relationship	Some
PCDH19 clustering epilepsy	Is a	Mental retardation	false	Inferred relationship	Some
PCDH19 clustering epilepsy	Is a	X-linked hereditary disease	true	Inferred relationship	Some
PCDH19 clustering epilepsy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
PCDH19 clustering epilepsy	Finding site	Cerebrum	false	Inferred relationship	Some	2
PCDH19 clustering epilepsy	Has definitional manifestation	Seizure	false	Inferred relationship	Some
PCDH19 clustering epilepsy	Is a	Intellectual disability	false	Inferred relationship	Some
PCDH19 clustering epilepsy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
PCDH19 clustering epilepsy	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
PCDH19 clustering epilepsy	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
PCDH19 clustering epilepsy	Has interpretation	Impaired	true	Inferred relationship	Some	3
PCDH19 clustering epilepsy	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
PCDH19 clustering epilepsy	Has interpretation	Impaired	true	Inferred relationship	Some	4
PCDH19 clustering epilepsy	Finding site	Brain structure	true	Inferred relationship	Some	2
PCDH19 clustering epilepsy	Is a	Genetic intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3307239012	Female restricted epilepsy with intellectual disability syndrome (disorder)	en	Fully specified name	Inactive	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
5424916010	Protocadherin 19 clustering epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5424917018	PCDH19-CE - protocadherin 19 clustering epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5424918011	PCDH19 clustering epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5424919015	Protocadherin 19 clustering epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5424920014	Juberg-Hellman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401378016	Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401379012	Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterised by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioural disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core