445355009: Refractory epilepsy (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2869792011 Refractory epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2871997010 Intractable epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2871998017 Refractory epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4819991000005115 refraktær epilepsi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
refraktær epilepsi	Is a	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	false	Inferred relationship	Some
refraktær epilepsi	Has definitional manifestation	Seizure	false	Inferred relationship	Some
refraktær epilepsi	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.	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
refraktær generaliseret ikke-konvulsiv epilepsi	Is a	False	refraktær epilepsi	Inferred relationship	Some
refraktær lokalisationsrelateret epilepsi	Is a	False	refraktær epilepsi	Inferred relationship	Some
Intractable simple partial epilepsy	Is a	False	refraktær epilepsi	Inferred relationship	Some
Intractable partial temporal lobe epilepsy with impairment of consciousness	Is a	False	refraktær epilepsi	Inferred relationship	Some
Refractory generalized convulsive epilepsy	Is a	False	refraktær epilepsi	Inferred relationship	Some
Refractory juvenile myoclonic epilepsy	Is a	False	refraktær epilepsi	Inferred relationship	Some
Refractory myoclonic epilepsy	Is a	False	refraktær epilepsi	Inferred relationship	Some
Refractory idiopathic generalized epilepsy	Is a	False	refraktær epilepsi	Inferred relationship	Some
Status epilepticus due to refractory epilepsy	Due to	False	refraktær epilepsi	Inferred relationship	Some	1
A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE) and requires a preceding febrile infection as a mandatory feature.	Is a	False	refraktær epilepsi	Inferred relationship	Some
A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.	Is a	False	refraktær epilepsi	Inferred relationship	Some
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.	Is a	False	refraktær epilepsi	Inferred relationship	Some
A rare genetic central nervous system malformation syndrome with characteristics of congenital progressive microcephaly, neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21.	Is a	False	refraktær epilepsi	Inferred relationship	Some
Benign childhood epilepsy with centrotemporal spikes, refractory	Is a	False	refraktær epilepsi	Inferred relationship	Some
A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.	Is a	False	refraktær epilepsi	Inferred relationship	Some

Reference Sets

POSSIBLY REPLACED BY association reference set (foundation metadata concept)

Concept inactivation indicator reference set