FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

230437002: Dravet syndrome (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
345311015 Severe myoclonic epilepsy in infancy en Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
618244013 Severe myoclonic epilepsy in infancy (disorder) en Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
3513043019 Dravet Syndrome en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5373650013 Dravet syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5373651012 Dravet syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5373652017 DS - Dravet syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5448826015 A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5448827012 A rare, genetic, developmental and epileptic encephalopathy characterised by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dravet syndrome Is a Epilepsy undetermined whether focal or generalized false Inferred relationship Some
Dravet syndrome Severity Severe false Inferred relationship Some
Dravet syndrome Finding site Cerebrum false Inferred relationship Some
Dravet syndrome Is a Myoclonic epilepsy of early childhood false Inferred relationship Some
Dravet syndrome Occurrence Childhood false Inferred relationship Some
Dravet syndrome Occurrence Infancy false Inferred relationship Some
Dravet syndrome Has definitional manifestation Seizure false Inferred relationship Some
Dravet syndrome Is a Refractory myoclonic epilepsy false Inferred relationship Some
Dravet syndrome Is a Epileptic encephalopathy (disorder) false Inferred relationship Some
Dravet syndrome Occurrence Infancy true Inferred relationship Some 1
Dravet syndrome Finding site Cerebrum false Inferred relationship Some 1
Dravet syndrome Interprets Movement false Inferred relationship Some 2
Dravet syndrome Finding site Brain structure true Inferred relationship Some 1
Dravet syndrome Is a Developmental and epileptic encephalopathy true Inferred relationship Some
Dravet syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start