784342008: Familial infantile myoclonic epilepsy (disorder)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Familial infantile myoclonic epilepsy (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Familial infantile myoclonic epilepsy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Familial infantile myoclonic epilepsy (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Familial infantile myoclonic epilepsy (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Familial infantile myoclonic epilepsy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Familial infantile myoclonic epilepsy (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Familial infantile myoclonic epilepsy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Familial infantile myoclonic epilepsy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial infantile myoclonic epilepsy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Familial infantile myoclonic epilepsy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Familial infantile myoclonic epilepsy (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Familial infantile myoclonic epilepsy (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Familial infantile myoclonic epilepsy (disorder)
\Disease\Familial disease\Familial infantile myoclonic epilepsy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial infantile myoclonic epilepsy (disorder)	Is a	Myoclonic seizure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial infantile myoclonic epilepsy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial infantile myoclonic epilepsy (disorder)	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.	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial infantile myoclonic epilepsy (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial infantile myoclonic epilepsy (disorder)	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial infantile myoclonic epilepsy (disorder)	Is a	Familial disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial infantile myoclonic epilepsy (disorder)	Interprets	Movement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial infantile myoclonic epilepsy (disorder)	Is a	Generalized epilepsy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial infantile myoclonic epilepsy (disorder)	Is a	Epilepsy	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3763690018	Familial infantile myoclonus epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763691019	FIME - familial infantile myoclonic epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763692014	Familial infantile myoclonic epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763693016	Familial infantile myoclonic epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763694010	A rare genetic infantile epilepsy syndrome disease with characteristics of neonatal to infancy onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763690018	Familial infantile myoclonus epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763691019	FIME - familial infantile myoclonic epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763692014	Familial infantile myoclonic epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763693016	Familial infantile myoclonic epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763694010	A rare genetic infantile epilepsy syndrome disease with characteristics of neonatal to infancy onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3448321001000112	Myoklonusepilepsie, infantile familiäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6218051000241114	épilepsie myoclonique familiale du bébé de moins d'un an	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6218061000241112	épilepsie myoclonique infantile familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6218071000241116	épilepsie myoclonique familiale du nourrisson	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6218051000241114	épilepsie myoclonique familiale du bébé de moins d'un an	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6218061000241112	épilepsie myoclonique infantile familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6218071000241116	épilepsie myoclonique familiale du nourrisson	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448321001000112	Myoklonusepilepsie, infantile familiäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module