Epilepsy diagnosis codes

Codelist metadata

Coding system
SNOMED CT (UK Clinical Edition)
Coding system release
39.2.0
Organisation
NHSD Primary Care Domain Refsets
Codelist ID
nhsd-primary-care-domain-refsets/epil_cod
Version Tag
20241205
Version ID
28ffb643
Download CSV Download definition

Versions

  1. 20241205 Pubished
    Created: 24 Dec 2024 at 12:44
  2. 20210127 Pubished
    Created: 21 Apr 2021 at 16:35
  3. 20200812 Pubished
    Created: 21 Apr 2021 at 16:24

About

Description

Taken from the EPIL_COD refset published by NHSD.

References

Codelists are developed by a broad community of users for individual study purposes, which may or may not meet the needs of other studies. They should not be thought of as universal definitions of a particular condition.

We don't offer any guarantees about what they do or don't identify. Users should carefully check that any codelist meets their needs, and seek clinical input where appropriate.

Disorder

  • Status:
    Included
    Name:
    Aicardi's syndrome
    Code:
    (80651009)
  • Status:
    Included
    Name:
    Combined deficiency of sialidase AND beta galactosidase
    Code:
    (35691006)
  • Status:
    Included
    Name:
    Cyclin-dependent kinase-like 5 deficiency
    Code:
    (773230003)
  • Status:
    Included
    Name:
    Early-onset epilepsy, intellectual disability, brain anomalies syndrome
    Code:
    (1172627007)
  • Status:
    Included
    Name:
    Encephalopathy due to mitochondrial and peroxisomal fission defect
    Code:
    (1236807002)
  • Status:
    Included
    Name:
    Epilepsy
    Code:
    (84757009)
    • Status:
      Excluded
      Name:
      Acquired epileptic aphasia
      Code:
      (230438007)
    • Status:
      Excluded
      Name:
      Acute encephalopathy with biphasic seizures and late reduced diffusion
      Code:
      (766044005)
    • Status:
      Included
      Name:
      Alopecia, epilepsy, intellectual disability syndrome Moynahan type
      Code:
      (788417006)
    • Status:
      Excluded
      Name:
      Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome
      Code:
      (720519003)
    • Status:
      Included
      Name:
      Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
      Code:
      (771448004)
    • Status:
      Excluded
      Name:
      Autism spectrum disorder, epilepsy, arthrogryposis syndrome
      Code:
      (733623005)
    • Status:
      Excluded
      Name:
      Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
      Code:
      (770898002)
    • Status:
      Excluded
      Name:
      Benign adult familial myoclonic epilepsy
      Code:
      (717225001)
    • Status:
      Included
      Name:
      Benign infantile focal epilepsy with midline spikes and waves during sleep
      Code:
      (770622009)
    • Status:
      Excluded
      Name:
      Benign infantile seizure with mild gastroenteritis syndrome
      Code:
      (765756007)
    • Status:
      Excluded
      Name:
      Celiac disease with epilepsy and cerebral calcification syndrome
      Code:
      (722386009)
    • Status:
      Included
      Name:
      Combined focal and generalized epilepsy
      Code:
      (1260117009)
      • Status:
        Excluded
        Name:
        Genetic epilepsy with febrile seizures plus
        Code:
        (699688008)
      • Status:
        Included
        Name:
        Primary inherited reading epilepsy
        Code:
        (230389006)
      • Status:
        Included
        Name:
        Secondary reading epilepsy
        Code:
        (230440002)
    • Status:
      Excluded
      Name:
      Congenital muscular dystrophy with intellectual disability and severe epilepsy
      Code:
      (782772000)
    • Status:
      Included
      Name:
      Cryptogenic late-onset epileptic spasms
      Code:
      (778063003)
    • Status:
      Included
      Name:
      Developmental and epileptic encephalopathy
      Code:
      (1275631007)
      • Status:
        Excluded
        Name:
        Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation
        Code:
        (1237417007)
      • Status:
        Excluded
        Name:
        Combined oxidative phosphorylation defect type 27
        Code:
        (1172844009)
      • Status:
        Included
        Name:
        Contactin associated protein 2-related developmental and epileptic encephalopathy
        Code:
        (1230376005)
      • Status:
        Included
        Name:
        Early infantile epileptic encephalopathy with suppression bursts
        Code:
        (230429005)
        • Status:
          Included
          Name:
          Syntaxin binding protein 1 encephalopathy with epilepsy
          Code:
          (768666006)
      • Status:
        Included
        Name:
        Early myoclonic encephalopathy
        Code:
        (44423001)
      • Status:
        Included
        Name:
        Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation
        Code:
        (770431001)
      • Status:
        Included
        Name:
        Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
        Code:
        (773548008)
      • Status:
        Included
        Name:
        Epilepsy with continuous spike wave during slow-wave sleep
        Code:
        (230439004)
      • Status:
        Included
        Name:
        Epilepsy with myoclonic-atonic seizures
        Code:
        (230421008)
      • Status:
        Excluded
        Name:
        Epileptic encephalopathy with global cerebral demyelination
        Code:
        (726702005)
      • Status:
        Excluded
        Name:
        FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
        Code:
        (778029000)
      • Status:
        Excluded
        Name:
        Folinic acid responsive seizure syndrome
        Code:
        (717276003)
      • Status:
        Excluded
        Name:
        Hyperekplexia epilepsy syndrome
        Code:
        (785726009)
      • Status:
        Included
        Name:
        Hypothalamic hamartoma with gelastic seizure
        Code:
        (766932005)
      • Status:
        Included
        Name:
        Infantile epileptic dyskinetic encephalopathy
        Code:
        (771223000)
      • Status:
        Included
        Name:
        Lennox-Gastaut syndrome
        Code:
        (230418006)
        • Status:
          Included
          Name:
          Cryptogenic Lennox-Gastaut syndrome
          Code:
          (230419003)
        • Status:
          Included
          Name:
          Symptomatic Lennox-Gastaut syndrome
          Code:
          (230420009)
      • Status:
        Included
        Name:
        Lethal neonatal spasticity, epileptic encephalopathy syndrome
        Code:
        (1197587003)
      • Status:
        Included
        Name:
        Multiple congenital anomalies, hypotonia, seizures syndrome type 2
        Code:
        (773643006)
      • Status:
        Excluded
        Name:
        Multiple mitochondrial dysfunctions syndrome type 2
        Code:
        (1208486005)
      • Status:
        Included
        Name:
        Myoclonic encephalopathy
        Code:
        (192845009)
        • Status:
          Included
          Name:
          X-linked spasticity, intellectual disability, epilepsy syndrome
          Code:
          (725163002)
      • Status:
        Included
        Name:
        Myoclonic epilepsy in non-progressive encephalopathy
        Code:
        (778047006)
      • Status:
        Excluded
        Name:
        Neonatal epileptic encephalopathy due to deficiency of glutaminase
        Code:
        (1222662000)
      • Status:
        Included
        Name:
        Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy
        Code:
        (778001003)
      • Status:
        Excluded
        Name:
        Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
        Code:
        (782825008)
      • Status:
        Excluded
        Name:
        Ring finger protein 13-related severe early-onset epileptic encephalopathy
        Code:
        (1222659003)
      • Status:
        Included
        Name:
        Severe myoclonic epilepsy in infancy
        Code:
        (230437002)
      • Status:
        Included
        Name:
        Severe neonatal onset encephalopathy with microcephaly
        Code:
        (771303004)
      • Status:
        Excluded
        Name:
        Solute carrier family 35 member A2 congenital disorder of glycosylation
        Code:
        (771516000)
      • Status:
        Excluded
        Name:
        Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy
        Code:
        (1222656005)
    • Status:
      Excluded
      Name:
      Developmental delay, epilepsy, neonatal diabetes syndrome
      Code:
      (721088003)
    • Status:
      Included
      Name:
      Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
      Code:
      (782737003)
    • Status:
      Included
      Name:
      Drug-induced epilepsy
      Code:
      (230441003)
      • Status:
        Included
        Name:
        Alcohol-induced epilepsy
        Code:
        (361268000)
    • Status:
      Excluded
      Name:
      Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
      Code:
      (1172593006)
    • Status:
      Included
      Name:
      Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
      Code:
      (1187042007)
    • Status:
      Excluded
      Name:
      Epilepsy co-occurrent and due to degenerative brain disorder
      Code:
      (724988000)
    • Status:
      Excluded
      Name:
      Epilepsy co-occurrent and due to dementia
      Code:
      (724992007)
    • Status:
      Excluded
      Name:
      Epilepsy co-occurrent and due to demyelinating disorder
      Code:
      (724991000)
    • Status:
      Excluded
      Name:
      Epilepsy co-occurrent and due to mesial temporal sclerosis
      Code:
      (724989008)
    • Status:
      Included
      Name:
      Epilepsy due to Rasmussen syndrome
      Code:
      (1260368003)
    • Status:
      Included
      Name:
      Epilepsy due to bacterial endocarditis
      Code:
      (1163529009)
    • Status:
      Excluded
      Name:
      Epilepsy due to cerebrovascular accident
      Code:
      (724787004)
    • Status:
      Included
      Name:
      Epilepsy due to congenital anomaly of brain
      Code:
      (1260377005)
    • Status:
      Included
      Name:
      Epilepsy due to congenital infectious disease
      Code:
      (1260374003)
    • Status:
      Included
      Name:
      Epilepsy due to glucose transporter protein type 1 deficiency syndrome
      Code:
      (1260375002)
    • Status:
      Excluded
      Name:
      Epilepsy due to immune disorder
      Code:
      (724990004)
    • Status:
      Excluded
      Name:
      Epilepsy due to infectious disease of central nervous system
      Code:
      (724549005)
      • Status:
        Included
        Name:
        Epilepsy due to infectious encephalitis
        Code:
        (860804005)
      • Status:
        Included
        Name:
        Epilepsy due to infectious meningitis
        Code:
        (860806007)
      • Status:
        Included
        Name:
        Epilepsy due to neonatal central nervous system infection
        Code:
        (860815000)
    • Status:
      Excluded
      Name:
      Epilepsy due to intracranial tumor
      Code:
      (724789001)
    • Status:
      Included
      Name:
      Epilepsy due to parasitic disease
      Code:
      (1163527006)
    • Status:
      Excluded
      Name:
      Epilepsy due to perinatal anoxic-ischemic brain injury
      Code:
      (724786008)
    • Status:
      Included
      Name:
      Epilepsy due to perinatal cerebral ischemia
      Code:
      (1260371006)
    • Status:
      Included
      Name:
      Epilepsy due to perinatal intraventricular hemorrhage
      Code:
      (1260369006)
    • Status:
      Included
      Name:
      Epilepsy due to perinatal periventricular hemorrhage
      Code:
      (1260370007)
    • Status:
      Included
      Name:
      Epilepsy due to scarring of brain
      Code:
      (322112361000132104)
    • Status:
      Excluded
      Name:
      Epilepsy in mother complicating childbirth
      Code:
      (10750951000119106)
    • Status:
      Excluded
      Name:
      Epilepsy in mother complicating pregnancy
      Code:
      (100941000119100)
    • Status:
      Excluded
      Name:
      Epilepsy of infancy with migrating focal seizures
      Code:
      (733195008)
    • Status:
      Excluded
      Name:
      Epilepsy telangiectasia syndrome
      Code:
      (733032006)
    • Status:
      Excluded
      Name:
      Epilepsy, microcephaly, skeletal dysplasia syndrome
      Code:
      (733031004)
    • Status:
      Excluded
      Name:
      Epileptic dementia with behavioral disturbance
      Code:
      (82381000119103)
    • Status:
      Excluded
      Name:
      Epileptic encephalopathy
      Code:
      (723125008)
      • Status:
        Excluded
        Name:
        Febrile infection related epilepsy syndrome
        Code:
        (725413002)
      • Status:
        Included
        Name:
        Rasmussen syndrome
        Code:
        (230191005)
    • Status:
      Included
      Name:
      Familial infantile myoclonic epilepsy
      Code:
      (784342008)
    • Status:
      Excluded
      Name:
      Fatty acyl-coenzyme A reductase 1 deficiency
      Code:
      (1237619001)
    • Status:
      Excluded
      Name:
      Female restricted epilepsy with intellectual disability syndrome
      Code:
      (716706009)
    • Status:
      Included
      Name:
      Focal epilepsy
      Code:
      (230381009)
      • Status:
        Included
        Name:
        Amygdalo-hippocampal epilepsy
        Code:
        (230391003)
      • Status:
        Excluded
        Name:
        Benign focal seizure of adolescence
        Code:
        (715425000)
      • Status:
        Included
        Name:
        Benign partial epilepsy of infancy with complex partial seizures
        Code:
        (770624005)
      • Status:
        Included
        Name:
        Benign partial epilepsy with secondarily generalized seizures in infancy
        Code:
        (771141002)
      • Status:
        Included
        Name:
        Cingulate epilepsy
        Code:
        (230396008)
      • Status:
        Excluded
        Name:
        Extratemporal epilepsy
        Code:
        (111498005)
      • Status:
        Included
        Name:
        Familial focal epilepsy with variable foci
        Code:
        (764522009)
      • Status:
        Included
        Name:
        Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome
        Code:
        (765089003)
      • Status:
        Included
        Name:
        Frontal lobe epilepsy
        Code:
        (230394006)
        • Status:
          Included
          Name:
          Anterior frontopolar epilepsy
          Code:
          (230397004)
        • Status:
          Included
          Name:
          Dorsolateral epilepsy
          Code:
          (230399001)
        • Status:
          Included
          Name:
          Motor cortex epilepsy
          Code:
          (267592003)
        • Status:
          Included
          Name:
          Opercular epilepsy
          Code:
          (230400008)
        • Status:
          Included
          Name:
          Orbitofrontal epilepsy
          Code:
          (230398009)
        • Status:
          Excluded
          Name:
          Partial frontal lobe epilepsy
          Code:
          (14401000119109)
        • Status:
          Excluded
          Name:
          Sleep-related hypermotor epilepsy
          Code:
          (1332160004)
          • Status:
            Excluded
            Name:
            Familial sleep-related hypermotor epilepsy
            Code:
            (698021005)
        • Status:
          Included
          Name:
          Supplementary motor epilepsy
          Code:
          (230395007)
      • Status:
        Included
        Name:
        Hemiplegia-hemiconvulsion-epilepsy syndrome
        Code:
        (230407006)
      • Status:
        Included
        Name:
        Jacksonian, focal or motor epilepsy
        Code:
        (307357004)
      • Status:
        Included
        Name:
        Mesiobasal limbic epilepsy
        Code:
        (193003000)
      • Status:
        Included
        Name:
        Occipital lobe epilepsy
        Code:
        (230404004)
        • Status:
          Included
          Name:
          Benign occipital lobe epilepsy
          Code:
          (770623004)
          • Status:
            Excluded
            Name:
            Childhood occipital visual epilepsy
            Code:
            (230388003)
        • Status:
          Excluded
          Name:
          Partial occipital lobe epilepsy
          Code:
          (20121000119105)
        • Status:
          Excluded
          Name:
          Photosensitive occipital lobe epilepsy
          Code:
          (1335933003)
      • Status:
        Included
        Name:
        Parietal lobe epilepsy
        Code:
        (230403005)
        • Status:
          Excluded
          Name:
          Partial parietal lobe epilepsy
          Code:
          (21391000119102)
          • Status:
            Excluded
            Name:
            Intractable partial parietal lobe epilepsy with impairment of consciousness
            Code:
            (84211000119108)
      • Status:
        Included
        Name:
        Psychomotor epilepsy
        Code:
        (361123003)
      • Status:
        Included
        Name:
        Rasmussen syndrome
        Code:
        (230191005)
      • Status:
        Included
        Name:
        Rhinencephalic epilepsy
        Code:
        (230392005)
      • Status:
        Excluded
        Name:
        Self-limited focal epilepsy
        Code:
        (15523002)
        • Status:
          Excluded
          Name:
          Benign atypical partial epilepsy in childhood
          Code:
          (230384001)
        • Status:
          Excluded
          Name:
          Infantile convulsion and choreoathetosis syndrome
          Code:
          (715534008)
        • Status:
          Included
          Name:
          Self-limited epilepsy with autonomic seizures
          Code:
          (230387008)
        • Status:
          Included
          Name:
          Self-limited epilepsy with centrotemporal spikes
          Code:
          (44145005)
          • Status:
            Excluded
            Name:
            Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome
            Code:
            (1231737000)
          • Status:
            Included
            Name:
            Rolandic epilepsy, speech dyspraxia syndrome
            Code:
            (765093009)
        • Status:
          Excluded
          Name:
          Self-limited familial neonatal-infantile epilepsy
          Code:
          (1231282002)
        • Status:
          Excluded
          Name:
          Self-limited infantile epilepsy
          Code:
          (1332157006)
          • Status:
            Excluded
            Name:
            Self-limited familial infantile epilepsy
            Code:
            (1237571004)
        • Status:
          Excluded
          Name:
          Self-limited neonatal epilepsy
          Code:
          (38281008)
          • Status:
            Excluded
            Name:
            Benign non-familial neonatal convulsions
            Code:
            (230411000)
          • Status:
            Excluded
            Name:
            Self-limited familial neonatal epilepsy
            Code:
            (230410004)
      • Status:
        Included
        Name:
        Simple partial epileptic seizure
        Code:
        (199451000000106)
      • Status:
        Included
        Name:
        Somatosensory epilepsy
        Code:
        (193008009)
      • Status:
        Included
        Name:
        Temporal lobe epilepsy
        Code:
        (193000002)
        • Status:
          Included
          Name:
          Cursive (running) epilepsy
          Code:
          (193021002)
        • Status:
          Included
          Name:
          Familial mesial temporal lobe epilepsy with febrile seizures
          Code:
          (784372002)
        • Status:
          Included
          Name:
          Familial temporal lobe epilepsy
          Code:
          (783739005)
          • Status:
            Included
            Name:
            Familial epilepsy with auditory features
            Code:
            (784377008)
          • Status:
            Included
            Name:
            Familial mesial temporal lobe epilepsy
            Code:
            (770405003)
        • Status:
          Included
          Name:
          Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
          Code:
          (773421009)
        • Status:
          Included
          Name:
          Lateral temporal epilepsy
          Code:
          (230393000)
          • Status:
            Excluded
            Name:
            Epilepsy with auditory features
            Code:
            (1332158001)
            • Status:
              Included
              Name:
              Familial epilepsy with auditory features
              Code:
              (784377008)
        • Status:
          Included
          Name:
          Mesial temporal lobe epilepsy with hippocampal sclerosis
          Code:
          (770643005)
    • Status:
      Included
      Name:
      Generalized epilepsy
      Code:
      (19598007)
      • Status:
        Excluded
        Name:
        Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency
        Code:
        (773498006)
      • Status:
        Excluded
        Name:
        Generalized epilepsy and paroxysmal dyskinesia syndrome
        Code:
        (715629001)
      • Status:
        Included
        Name:
        Genetic generalized epilepsy
        Code:
        (1260407007)
        • Status:
          Included
          Name:
          Epilepsy with eyelid myoclonia
          Code:
          (716278005)
        • Status:
          Included
          Name:
          Epilepsy with myoclonic absence
          Code:
          (230422001)
        • Status:
          Included
          Name:
          Epilepsy with myoclonic-atonic seizures
          Code:
          (230421008)
        • Status:
          Excluded
          Name:
          Idiopathic generalized epilepsy
          Code:
          (36803009)
          • Status:
            Included
            Name:
            Childhood absence epilepsy
            Code:
            (50866000)
          • Status:
            Included
            Name:
            Epilepsy with generalized tonic-clonic seizures alone
            Code:
            (230414008)
          • Status:
            Included
            Name:
            Juvenile absence epilepsy
            Code:
            (230413002)
          • Status:
            Included
            Name:
            Juvenile myoclonic epilepsy
            Code:
            (6204001)
        • Status:
          Included
          Name:
          Myoclonic epilepsy in infancy
          Code:
          (192990004)
        • Status:
          Included
          Name:
          Perioral myoclonia with absences
          Code:
          (766815007)
      • Status:
        Included
        Name:
        Myoclonic epilepsy with ragged red fibers
        Code:
        (230426003)
    • Status:
      Excluded
      Name:
      Infant epilepsy with migrant focal crisis
      Code:
      (724274009)
    • Status:
      Excluded
      Name:
      Infantile spasm and broad thumb syndrome
      Code:
      (770438007)
    • Status:
      Excluded
      Name:
      Kohlschutter's syndrome
      Code:
      (109478007)
    • Status:
      Included
      Name:
      Malignant migrating partial seizures of infancy
      Code:
      (784345005)
    • Status:
      Excluded
      Name:
      Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome
      Code:
      (1300128003)
    • Status:
      Included
      Name:
      Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome
      Code:
      (773497001)
    • Status:
      Included
      Name:
      Petit-mal epilepsy
      Code:
      (509341000000107)
    • Status:
      Included
      Name:
      Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
      Code:
      (1167371007)
    • Status:
      Excluded
      Name:
      Post infectious grand mal epilepsy
      Code:
      (698764006)
    • Status:
      Included
      Name:
      Post-cerebrovascular accident epilepsy
      Code:
      (698767004)
      • Status:
        Included
        Name:
        Fetal epilepsy due to perinatal stroke
        Code:
        (1179360000)
      • Status:
        Excluded
        Name:
        Maternal epilepsy due to perinatal stroke
        Code:
        (1179359005)
      • Status:
        Included
        Name:
        Neonatal epilepsy due to perinatal stroke
        Code:
        (1179547007)
    • Status:
      Included
      Name:
      Post-traumatic epilepsy
      Code:
      (75023009)
    • Status:
      Included
      Name:
      Progressive myoclonic epilepsy
      Code:
      (267581004)
      • Status:
        Included
        Name:
        Action myoclonus renal failure syndrome
        Code:
        (764453009)
      • Status:
        Included
        Name:
        Early-onset Lafora body disease
        Code:
        (733082001)
      • Status:
        Included
        Name:
        Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
        Code:
        (771469002)
      • Status:
        Included
        Name:
        Lafora disease
        Code:
        (230425004)
      • Status:
        Included
        Name:
        Progressive myoclonic epilepsy type 3
        Code:
        (783064000)
      • Status:
        Included
        Name:
        Progressive myoclonic epilepsy type 5
        Code:
        (783055005)
      • Status:
        Included
        Name:
        Progressive myoclonic epilepsy type 6
        Code:
        (783062001)
      • Status:
        Included
        Name:
        Progressive myoclonic epilepsy type 7
        Code:
        (1208939001)
      • Status:
        Included
        Name:
        Progressive myoclonic epilepsy type 8
        Code:
        (783139000)
      • Status:
        Included
        Name:
        Progressive myoclonic epilepsy type 9
        Code:
        (1228857005)
      • Status:
        Included
        Name:
        Progressive myoclonic epilepsy with dystonia
        Code:
        (763349002)
      • Status:
        Included
        Name:
        Progressive myoclonus epilepsy with ataxia
        Code:
        (702326000)
      • Status:
        Excluded
        Name:
        Spinal muscular atrophy with progressive myoclonic epilepsy
        Code:
        (703524005)
      • Status:
        Included
        Name:
        Unverricht-Lundborg syndrome
        Code:
        (230423006)
    • Status:
      Excluded
      Name:
      Pyridoxal 5-phosphate dependent epilepsy
      Code:
      (724576005)
    • Status:
      Included
      Name:
      Pyridoxine-dependent epilepsy
      Code:
      (734434007)
    • Status:
      Included
      Name:
      Reflex epilepsy
      Code:
      (79745005)
      • Status:
        Included
        Name:
        Aquagenic epilepsy
        Code:
        (230454005)
      • Status:
        Included
        Name:
        Audiogenic epilepsy
        Code:
        (765216006)
      • Status:
        Included
        Name:
        Cursive (running) epilepsy
        Code:
        (193021002)
      • Status:
        Included
        Name:
        Decision-making epilepsy
        Code:
        (230453004)
      • Status:
        Included
        Name:
        Eating epilepsy
        Code:
        (230450001)
      • Status:
        Included
        Name:
        Hot water reflex epilepsy
        Code:
        (763534009)
      • Status:
        Included
        Name:
        Menstrual epilepsy
        Code:
        (230444006)
      • Status:
        Included
        Name:
        Micturition induced epilepsy
        Code:
        (763802009)
      • Status:
        Included
        Name:
        Narcotic withdrawal epilepsy
        Code:
        (230443000)
      • Status:
        Included
        Name:
        Orgasm induced epilepsy
        Code:
        (763827002)
      • Status:
        Included
        Name:
        Photogenic epilepsy
        Code:
        (95208000)
        • Status:
          Included
          Name:
          Visual reflex epilepsy
          Code:
          (193010006)
      • Status:
        Included
        Name:
        Primary inherited reading epilepsy
        Code:
        (230389006)
      • Status:
        Included
        Name:
        Secondary reading epilepsy
        Code:
        (230440002)
      • Status:
        Included
        Name:
        Startle epilepsy
        Code:
        (763632004)
      • Status:
        Included
        Name:
        Stress-induced epilepsy
        Code:
        (413101007)
      • Status:
        Included
        Name:
        Thinking epilepsy
        Code:
        (763622006)
      • Status:
        Included
        Name:
        Toothbrushing epilepsy
        Code:
        (230452009)
      • Status:
        Included
        Name:
        Writing epilepsy
        Code:
        (230448009)
    • Status:
      Excluded
      Name:
      Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
      Code:
      (723676007)
    • Status:
      Excluded
      Name:
      Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract
      Code:
      (1179282009)
    • Status:
      Included
      Name:
      Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy
      Code:
      (765170001)
    • Status:
      Included
      Name:
      Spastic paraplegia, severe developmental delay, epilepsy syndrome
      Code:
      (1187278006)
    • Status:
      Excluded
      Name:
      Synaptic Ras GTPase activating protein 1- related intellectual disability
      Code:
      (780827006)
    • Status:
      Excluded
      Name:
      Visual epilepsy
      Code:
      (39194005)
    • Status:
      Included
      Name:
      West syndrome
      Code:
      (28055006)
      • Status:
        Included
        Name:
        Cryptogenic West syndrome
        Code:
        (230416005)
      • Status:
        Included
        Name:
        Symptomatic West syndrome
        Code:
        (230417001)
    • Status:
      Excluded
      Name:
      X-linked epilepsy with learning disability and behavior disorder syndrome
      Code:
      (717223008)
  • Status:
    Included
    Name:
    Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
    Code:
    (1172630000)
  • Status:
    Included
    Name:
    Infantile glycine encephalopathy
    Code:
    (1156826003)
    • Status:
      Included
      Name:
      Neonatal glycine encephalopathy
      Code:
      (1156803005)
  • Status:
    Included
    Name:
    Lipoic acid synthetase deficiency
    Code:
    (782744007)
  • Status:
    Included
    Name:
    Lissencephaly due to LIS1 mutation
    Code:
    (770560008)
  • Status:
    Included
    Name:
    Multiple congenital anomalies, hypotonia, seizures syndrome
    Code:
    (785303004)
  • Status:
    Included
    Name:
    Myoclonic disorder
    Code:
    (127324008)
    • Status:
      Excluded
      Name:
      Autoimmune generalized polymyoclonus
      Code:
      (1208833001)
    • Status:
      Excluded
      Name:
      Benign neonatal sleep myoclonus
      Code:
      (413638006)
    • Status:
      Excluded
      Name:
      Brainstem myoclonus
      Code:
      (698738000)
      • Status:
        Excluded
        Name:
        Dysphonia of palatopharyngolaryngeal myoclonus
        Code:
        (30736009)
      • Status:
        Excluded
        Name:
        Hyoid myoclonus
        Code:
        (230349000)
      • Status:
        Excluded
        Name:
        Palatal myoclonus
        Code:
        (9366002)
      • Status:
        Excluded
        Name:
        Palatal-tympanic myoclonus
        Code:
        (230348008)
    • Status:
      Excluded
      Name:
      Cerebral cortex myoclonus
      Code:
      (698835006)
      • Status:
        Excluded
        Name:
        Familial myoclonus of cerebral cortex
        Code:
        (763770005)
    • Status:
      Excluded
      Name:
      Drug-induced myoclonus
      Code:
      (230346007)
    • Status:
      Excluded
      Name:
      Dyssynergia cerebellaris myoclonica
      Code:
      (73495003)
    • Status:
      Excluded
      Name:
      Familial essential myoclonus
      Code:
      (67305007)
    • Status:
      Excluded
      Name:
      Hereditary hyperekplexia
      Code:
      (724351008)
    • Status:
      Excluded
      Name:
      Infant epilepsy with migrant focal crisis
      Code:
      (724274009)
    • Status:
      Excluded
      Name:
      Juvenile cerebellar degeneration AND myoclonus
      Code:
      (76156000)
    • Status:
      Excluded
      Name:
      Juvenile neuronal ceroid lipofuscinosis
      Code:
      (61663001)
    • Status:
      Excluded
      Name:
      Myoclonic disorder due to dementia
      Code:
      (1263512007)
    • Status:
      Excluded
      Name:
      Myoclonic disorder due to hepatic failure
      Code:
      (1263507006)
    • Status:
      Excluded
      Name:
      Myoclonic disorder due to mitochondrial disorder
      Code:
      (1263505003)
    • Status:
      Excluded
      Name:
      Myoclonic disorder due to neuronal ceroid lipofuscinosis
      Code:
      (1263506002)
    • Status:
      Excluded
      Name:
      Myoclonic disorder due to sialidosis
      Code:
      (1263503005)
    • Status:
      Excluded
      Name:
      Myoclonic disorder due to uremia
      Code:
      (1263501007)
    • Status:
      Excluded
      Name:
      Myoclonic dystonia
      Code:
      (439732004)
    • Status:
      Excluded
      Name:
      Myoclonus associated with fever
      Code:
      (441604003)
    • Status:
      Excluded
      Name:
      Myoclonus due to paraneoplastic syndrome
      Code:
      (1231233002)
      • Status:
        Excluded
        Name:
        Opsoclonus myoclonus syndrome due to paraneoplastic syndrome
        Code:
        (1231185005)
    • Status:
      Excluded
      Name:
      Myoclonus of stapedius muscle
      Code:
      (426187002)
    • Status:
      Excluded
      Name:
      Myoclonus of tensor tympani muscle
      Code:
      (427789001)
    • Status:
      Excluded
      Name:
      Myoclonus, cerebellar ataxia, deafness syndrome
      Code:
      (733065003)
    • Status:
      Excluded
      Name:
      Non-epileptic myoclonus
      Code:
      (427111000)
    • Status:
      Excluded
      Name:
      Opsoclonus-myoclonus syndrome
      Code:
      (230350000)
      • Status:
        Excluded
        Name:
        Autoimmune opsoclonus myoclonus
        Code:
        (838323002)
      • Status:
        Excluded
        Name:
        Opsoclonus myoclonus syndrome due to paraneoplastic syndrome
        Code:
        (1231185005)
    • Status:
      Excluded
      Name:
      Segmental myoclonus
      Code:
      (722974003)
    • Status:
      Excluded
      Name:
      Sialidosis
      Code:
      (38795005)
      • Status:
        Excluded
        Name:
        Dysmorphic sialidosis
        Code:
        (52186006)
        • Status:
          Excluded
          Name:
          Dysmorphic sialidosis with renal involvement
          Code:
          (81896006)
        • Status:
          Excluded
          Name:
          Dysmorphic sialidosis, congenital form
          Code:
          (27642008)
        • Status:
          Excluded
          Name:
          Dysmorphic sialidosis, infantile form
          Code:
          (51984006)
        • Status:
          Excluded
          Name:
          Dysmorphic sialidosis, juvenile form
          Code:
          (111383007)
      • Status:
        Excluded
        Name:
        Sialidosis type 1
        Code:
        (723675006)
    • Status:
      Excluded
      Name:
      Spinal cord myoclonus
      Code:
      (698836007)
      • Status:
        Excluded
        Name:
        Paramyoclonus multiplex
        Code:
        (60935008)
      • Status:
        Excluded
        Name:
        Segmental cord myoclonus
        Code:
        (230347003)
    • Status:
      Excluded
      Name:
      Sporadic hyperekplexia
      Code:
      (783705006)
    • Status:
      Excluded
      Name:
      Symptomatic myoclonus
      Code:
      (230343004)
      • Status:
        Excluded
        Name:
        Post-anoxic myoclonus
        Code:
        (230344005)
      • Status:
        Excluded
        Name:
        Postencephalitic myoclonus
        Code:
        (230345006)
  • Status:
    Included
    Name:
    Pierpont syndrome
    Code:
    (1220594007)
  • Status:
    Included
    Name:
    Primary hyperaldosteronism, seizures, neurological abnormalities syndrome
    Code:
    (789063000)
  • Status:
    Included
    Name:
    Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
    Code:
    (442511009)
  • Status:
    Included
    Name:
    Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
    Code:
    (770678005)

Finding

  • Status:
    Included
    Name:
    Focal onset emotional epileptic seizure with laughing
    Code:
    (89525009)
  • Status:
    Included
    Name:
    Focal onset impaired awareness epileptic seizure
    Code:
    (407675009)
    • Status:
      Excluded
      Name:
      Focal onset impaired awareness motor onset epileptic seizure
      Code:
      (1269358004)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness atonic epileptic seizure
        Code:
        (1269368009)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness automatism epileptic seizure
        Code:
        (1269374009)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness clonic epileptic seizure
        Code:
        (1269365007)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness hyperkinetic epileptic seizure
        Code:
        (1269373003)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness myoclonic epileptic seizure
        Code:
        (1269370000)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness tonic epileptic seizure
        Code:
        (1269362005)
    • Status:
      Excluded
      Name:
      Focal onset impaired awareness nonmotor onset epileptic seizure
      Code:
      (1279991001)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness autonomic epileptic seizure
        Code:
        (1281836004)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness behavior arrest epileptic seizure
        Code:
        (1281833007)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness cognitive epileptic seizure
        Code:
        (1281834001)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness emotional epileptic seizure
        Code:
        (1281838003)
      • Status:
        Excluded
        Name:
        Focal onset impaired awareness sensory epileptic seizure
        Code:
        (1284864005)
  • Status:
    Included
    Name:
    Status epilepticus
    Code:
    (230456007)
    • Status:
      Included
      Name:
      New-onset refractory status epilepticus
      Code:
      (770758009)
    • Status:
      Excluded
      Name:
      Status epilepticus with prominent motor symptoms
      Code:
      (1299164006)
      • Status:
        Included
        Name:
        Epilepsia partialis continua
        Code:
        (241006)
      • Status:
        Excluded
        Name:
        Myoclonic status epilepticus
        Code:
        (1299165007)
      • Status:
        Included
        Name:
        Tonic-clonic status epilepticus
        Code:
        (13973009)
        • Status:
          Excluded
          Name:
          Focal to bilateral tonic-clonic status epilepticus
          Code:
          (1299167004)
        • Status:
          Excluded
          Name:
          Generalized tonic-clonic status epilepticus
          Code:
          (1299166008)
    • Status:
      Excluded
      Name:
      Status epilepticus without prominent motor symptoms
      Code:
      (442512002)
      • Status:
        Excluded
        Name:
        Absence status epilepticus
        Code:
        (7033004)
        • Status:
          Included
          Name:
          Atypical absence status epilepticus
          Code:
          (230458008)
        • Status:
          Included
          Name:
          Typical absence status epilepticus
          Code:
          (230457003)

[Inactive] Disorder

  • Status:
    Included
    Name:
    Benign childhood epilepsy with centrotemporal spikes, non-refractory
    Code:
    (434551000124106)
  • Status:
    Included
    Name:
    Benign childhood epilepsy with centrotemporal spikes, refractory
    Code:
    (434541000124109)
  • Status:
    Included
    Name:
    Childhood absence epilepsy
    Code:
    (527611000000103)
  • Status:
    Included
    Name:
    Chronic progressive epilepsia partialis continua of childhood
    Code:
    (230405003)
  • Status:
    Included
    Name:
    Complex partial status epilepticus
    Code:
    (230460005)
  • Status:
    Included
    Name:
    Cortical dysplasia with focal epilepsy syndrome
    Code:
    (771142009)
  • Status:
    Included
    Name:
    Cryptogenic generalized epilepsy
    Code:
    (230415009)
  • Status:
    Included
    Name:
    Cryptogenic myoclonic epilepsy
    Code:
    (230427007)
  • Status:
    Included
    Name:
    Epilepsy undetermined whether focal or generalized
    Code:
    (230435005)
  • Status:
    Included
    Name:
    Epileptic automatism
    Code:
    (193004006)
  • Status:
    Included
    Name:
    Epileptic drop attack
    Code:
    (189198006)
  • Status:
    Included
    Name:
    Epileptic seizures - myoclonic
    Code:
    (192992007)
  • Status:
    Included
    Name:
    Generalized convulsive epilepsy
    Code:
    (65120008)
  • Status:
    Included
    Name:
    Generalized non-convulsive epilepsy
    Code:
    (192979009)
  • Status:
    Included
    Name:
    Idiopathic myoclonic epilepsy
    Code:
    (230428002)
  • Status:
    Included
    Name:
    Infantile spasms co-occurrent with status epilepticus
    Code:
    (290871000119101)
  • Status:
    Included
    Name:
    Intractable idiopathic partial epilepsy
    Code:
    (290741000119102)
  • Status:
    Included
    Name:
    Intractable partial temporal lobe epilepsy with impairment of consciousness
    Code:
    (84201000119105)
  • Status:
    Included
    Name:
    Juvenile absence epilepsy
    Code:
    (192983009)
  • Status:
    Included
    Name:
    Localization-related cryptogenic epilepsy
    Code:
    (230408001)
  • Status:
    Included
    Name:
    Localization-related idiopathic epilepsy
    Code:
    (278510009)
  • Status:
    Included
    Name:
    Localization-related symptomatic epilepsy
    Code:
    (230390002)
  • Status:
    Included
    Name:
    Localization-related symptomatic epilepsy with specific precipitant
    Code:
    (230406002)
  • Status:
    Included
    Name:
    Localization-related(focal)(partial)idiopathic epilepsy and epileptic syndromes with seizures of localized onset
    Code:
    (193022009)
  • Status:
    Included
    Name:
    Motor epilepsy
    Code:
    (307356008)
  • Status:
    Included
    Name:
    Myoclonic seizure
    Code:
    (37356005)
  • Status:
    Included
    Name:
    Nocturnal epilepsy
    Code:
    (230445007)
  • Status:
    Included
    Name:
    Non-convulsive simple partial status epilepticus
    Code:
    (230459000)
  • Status:
    Included
    Name:
    Non-progressive Kozhevnikow syndrome
    Code:
    (230401007)
  • Status:
    Included
    Name:
    Partial epilepsy with autonomic symptoms
    Code:
    (193009001)
  • Status:
    Included
    Name:
    Partial epilepsy with impairment of consciousness
    Code:
    (192999003)
  • Status:
    Included
    Name:
    Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome
    Code:
    (380941000000104)
  • Status:
    Included
    Name:
    Psychosensory epilepsy
    Code:
    (193002005)
  • Status:
    Included
    Name:
    Recurrent complex partial epilepsy
    Code:
    (116401000119105)
  • Status:
    Included
    Name:
    Refractory juvenile myoclonic epilepsy
    Code:
    (698761003)
  • Status:
    Included
    Name:
    Refractory myoclonic epilepsy
    Code:
    (698762005)
  • Status:
    Included
    Name:
    Retropulsion petit mal
    Code:
    (40816002)
  • Status:
    Included
    Name:
    Self-induced non-photosensitive epilepsy
    Code:
    (230455006)
  • Status:
    Included
    Name:
    Status epilepticus in benign Rolandic epilepsy
    Code:
    (291311000119108)
  • Status:
    Included
    Name:
    Symptomatic generalized epilepsy
    Code:
    (71831005)
  • Status:
    Included
    Name:
    Symptomatic myoclonic epilepsy
    Code:
    (230430000)
  • Status:
    Included
    Name:
    Tonic-clonic epilepsy
    Code:
    (352818000)

[Inactive] Situation

  • Status:
    Included
    Name:
    Unilateral epilepsy
    Code:
    (193011005)

[Inactive] Unknown

  • Status:
    Included
    Name:
    Juvenile myoclonic epilepsy
    Code:
    (122601000000109)
  • Status:
    Included
    Name:
    PEHO (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy) syndrome
    Code:
    (491261000000105)