230437002: Dravet-syndroom (aandoening)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345311015 Severe myoclonic epilepsy in infancy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618244013 Severe myoclonic epilepsy in infancy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3513043019 Dravet Syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

525491000146119 Dravet-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

525501000146112 Dravet-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

525511000146114 syndroom van Dravet nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

525521000146116 SMEI nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

594811000146116 ernstige myoklonische epilepsie van jonge kinderen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3513044013 A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

7583121000146116 Dit is een vorm van epilepsie die voorkomt bij kinderen, vaak in combinatie met een verstandelijke achterstand. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe myoclonic epilepsy in infancy	Is a	epilepsie zonder vaststelling van focale of gegeneraliseerde aard (aandoening)	false	Inferred relationship	Some
Severe myoclonic epilepsy in infancy	Severity	Severe	false	Inferred relationship	Some
Severe myoclonic epilepsy in infancy	Finding site	Cerebrum	false	Inferred relationship	Some
Severe myoclonic epilepsy in infancy	Is a	myoklonische epilepsie op peuterleeftijd	false	Inferred relationship	Some
Severe myoclonic epilepsy in infancy	Occurrence	Childhood	false	Inferred relationship	Some
Severe myoclonic epilepsy in infancy	Occurrence	Infancy	false	Inferred relationship	Some
Severe myoclonic epilepsy in infancy	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Severe myoclonic epilepsy in infancy	Is a	refractaire myoklonische epilepsie (aandoening)	false	Inferred relationship	Some
Severe myoclonic epilepsy in infancy	Is a	Epileptic encephalopathy (disorder)	false	Inferred relationship	Some
Severe myoclonic epilepsy in infancy	Occurrence	Infancy	true	Inferred relationship	Some	1
Severe myoclonic epilepsy in infancy	Finding site	Cerebrum	false	Inferred relationship	Some	1
Severe myoclonic epilepsy in infancy	Interprets	Movement	false	Inferred relationship	Some	2
Severe myoclonic epilepsy in infancy	Finding site	Brain structure	true	Inferred relationship	Some	1
Severe myoclonic epilepsy in infancy	Is a	Developmental and epileptic encephalopathy	true	Inferred relationship	Some
Severe myoclonic epilepsy in infancy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
345311015	Severe myoclonic epilepsy in infancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618244013	Severe myoclonic epilepsy in infancy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3513043019	Dravet Syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
525491000146119	Dravet-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
525501000146112	Dravet-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
525511000146114	syndroom van Dravet	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
525521000146116	SMEI	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
594811000146116	ernstige myoklonische epilepsie van jonge kinderen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3513044013	A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7583121000146116	Dit is een vorm van epilepsie die voorkomt bij kinderen, vaak in combinatie met een verstandelijke achterstand.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)