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

2869792011 Refractory epilepsy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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

210261000172112 épilepsie réfractaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

210261000172112 épilepsie réfractaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
épilepsie réfractaire	Is a	Epilepsy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
épilepsie réfractaire	Has definitional manifestation	Seizure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
épilepsie réfractaire	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	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
épilepsie réfractaire généralisée non convulsive	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
épilepsie focale réfractaire	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
Intractable simple partial epilepsy	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
Intractable partial temporal lobe epilepsy with impairment of consciousness	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
Refractory generalized convulsive epilepsy	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
Refractory juvenile myoclonic epilepsy	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
Refractory myoclonic epilepsy	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
Refractory idiopathic generalized epilepsy	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
Status epilepticus due to refractory epilepsy	Due to	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)	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	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
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	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder)	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
épilepsie infantile bénigne réfractaire avec pointes centrotemporales	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)	Is a	False	épilepsie réfractaire	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

POSSIBLY REPLACED BY association reference set (foundation metadata concept)

Concept inactivation indicator attribute value reference set (foundation metadata concept)