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230437002: Severe myoclonic epilepsy in infancy (disorder)

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 Reference Sets
345311015 Severe myoclonic epilepsy in infancy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
618244013 Severe myoclonic epilepsy in infancy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3513043019 Dravet Syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation 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 GB English: Preferred (foundation metadata concept)
1966721000052115 svår myoklonusepilepsi hos spädbarn sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)
3848781000052112 svår myoklonisk epilepsi hos spädbarn sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
4689111000052111 Dravets syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
4689121000052115 SMEI (severe myoclonic epilepsy of infancy) sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe myoclonic epilepsy in infancy Is a Epilepsy undetermined whether focal or generalised 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 Myoclonic epilepsy of early childhood 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 Refractory myoclonic epilepsy (disorder) true Inferred relationship Some
Severe myoclonic epilepsy in infancy Is a Epileptic encephalopathy (disorder) true Inferred relationship Some
Severe myoclonic epilepsy in infancy Occurrence Infancy true Inferred relationship Some 1
Severe myoclonic epilepsy in infancy Finding site Cerebrum true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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