230432008: Familial febrile convulsions (disorder)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Familial febrile convulsions
\Head finding (finding)\Finding of brain\Seizure\Febrile convulsion\Familial febrile convulsions
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Familial febrile convulsions
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Familial febrile convulsions

\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\...

\Febrile disorder (disorder)\Familial febrile convulsions

\Febrile convulsion\Familial febrile convulsions

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Familial febrile convulsions
\Central nervous system finding\Finding of brain\Seizure\Febrile convulsion\Familial febrile convulsions
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Familial febrile convulsions
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Familial febrile convulsions

\Vital signs finding (finding)\Body temperature finding\Abnormal body temperature\Body temperature above reference range\...

\Febrile disorder (disorder)\Familial febrile convulsions

\Febrile convulsion\Familial febrile convulsions

\Neurological finding (finding)\Seizure related finding\Seizure\...

\Seizure disorder\Familial febrile convulsions

\Febrile convulsion\Familial febrile convulsions

\Disease\Febrile disorder (disorder)\Familial febrile convulsions
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Familial febrile convulsions
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Familial febrile convulsions
\Disease\Familial disease (disorder)\Familial febrile convulsions

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345305018 Familial febrile convulsions en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618238014 Familial febrile convulsions (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1671751000005116 familiære feberkramper da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial febrile convulsions	Is a	Congenital cerebellar cortical atrophy	false	Inferred relationship	Some
Familial febrile convulsions	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	Some	1
Familial febrile convulsions	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Familial febrile convulsions	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Familial febrile convulsions	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Familial febrile convulsions	Occurrence	Congenital	false	Inferred relationship	Some
Familial febrile convulsions	Associated morphology	Medfødt atrofi	false	Inferred relationship	Some	2
Familial febrile convulsions	Is a	Congenital cerebellar cortical atrophy (disorder)	false	Inferred relationship	Some
Familial febrile convulsions	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	Some	1
Familial febrile convulsions	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Familial febrile convulsions	Associated morphology	Medfødt atrofi	false	Inferred relationship	Some	2
Familial febrile convulsions	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Familial febrile convulsions	Is a	Familial disease (disorder)	true	Inferred relationship	Some
Familial febrile convulsions	Has definitional manifestation	Febrile convulsion	false	Inferred relationship	Some
Familial febrile convulsions	Is a	Febrile convulsion	true	Inferred relationship	Some
Familial febrile convulsions	Is a	Seizure disorder	true	Inferred relationship	Some
Familial febrile convulsions	Finding site	Brain structure	true	Inferred relationship	Some	2
Familial febrile convulsions	Is a	Febrile disorder (disorder)	true	Inferred relationship	Some
Familial febrile convulsions	Associated with	Fever (finding)	false	Inferred relationship	Some	1
Familial febrile convulsions	Interprets	Body temperature (observable entity)	true	Inferred relationship	Some	1
Familial febrile convulsions	Has interpretation	Above reference range (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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.	Is a	True	Familial febrile convulsions	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
345305018	Familial febrile convulsions	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618238014	Familial febrile convulsions (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1671751000005116	familiære feberkramper	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)