1237571004: Self-limited familial infantile epilepsy (disorder)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\Self-limited infantile epilepsy (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
\Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\Self-limited infantile epilepsy (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\Self-limited infantile epilepsy (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\Self-limited infantile epilepsy (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\Self-limited infantile epilepsy (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\Self-limited infantile epilepsy (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\Self-limited infantile epilepsy (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\Self-limited infantile epilepsy (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
\Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\Self-limited infantile epilepsy (disorder)\Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5099852018 Benign familial infantile epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5099853011 Benign familial infantile convulsions en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5380926016 Self-limited familial infantile epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5380927013 Self-limited familial infantile epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5380928015 SeLFIE - self-limited familial infantile epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400303016 Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400304010 Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterised by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099849014 Benign familial infantile epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5099850014 BFIE - benign familial infantile epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099851013 BFIS - benign familial infantile seizures en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099852018 Benign familial infantile epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5099853011 Benign familial infantile convulsions en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5380926016 Self-limited familial infantile epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5380927013 Self-limited familial infantile epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5380928015 SeLFIE - self-limited familial infantile epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099854017 A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalized. A family history of the same epilepsy is a constant finding. The disease is genetically heterogeneous, in the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Transmitted as an autosomal dominant trait with incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099855016 A genetic epileptic syndrome characterised by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalised. A family history of the same epilepsy is a constant finding. The disease is genetically heterogeneous, in the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Transmitted as an autosomal dominant trait with incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400303016 Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400304010 Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterised by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. 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
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	Is a	Focal onset epileptic seizure (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	Is a	Epilepsy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	Is a	Self-limited infantile epilepsy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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
5099852018	Benign familial infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099853011	Benign familial infantile convulsions	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5380926016	Self-limited familial infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5380927013	Self-limited familial infantile epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5380928015	SeLFIE - self-limited familial infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400303016	Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400304010	Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterised by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099849014	Benign familial infantile epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099850014	BFIE - benign familial infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099851013	BFIS - benign familial infantile seizures	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099852018	Benign familial infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099853011	Benign familial infantile convulsions	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5380926016	Self-limited familial infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5380927013	Self-limited familial infantile epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5380928015	SeLFIE - self-limited familial infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099854017	A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalized. A family history of the same epilepsy is a constant finding. The disease is genetically heterogeneous, in the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Transmitted as an autosomal dominant trait with incomplete penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099855016	A genetic epileptic syndrome characterised by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalised. A family history of the same epilepsy is a constant finding. The disease is genetically heterogeneous, in the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Transmitted as an autosomal dominant trait with incomplete penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400303016	Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400304010	Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterised by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core