784342008: familiaire infantiele myoklonische epilepsie (aandoening)

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

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

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

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

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

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	Is a	myoklonische aanval	false	Inferred relationship	Some
Familial infantile myoclonic epilepsy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial infantile myoclonic epilepsy	Finding site	Cerebrum	true	Inferred relationship	Some	1
Familial infantile myoclonic epilepsy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Familial infantile myoclonic epilepsy	Occurrence	Infancy	true	Inferred relationship	Some	1
Familial infantile myoclonic epilepsy	Is a	Familial disease	true	Inferred relationship	Some
Familial infantile myoclonic epilepsy	Interprets	Movement	false	Inferred relationship	Some	2
Familial infantile myoclonic epilepsy	Is a	Generalized epilepsy	false	Inferred relationship	Some
Familial infantile myoclonic epilepsy	Is a	Epilepsy	true	Inferred relationship	Some

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
8013061000146117	familiaire infantiele myoclonusepilepsie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12186341000146113	familiaire infantiele myoklonische epilepsie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12186361000146114	familiaire infantiele myoklonische epilepsie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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