CDE Detailed Report

Disease: Epilepsy
Sub-Domain: Classification
CRF: Classification of Etiology

Displaying 1 - 8 of 8
CDE ID CDE Name Variable Name Definition Short Description Question Text Permissible Values Description Data Type Disease Specific Instructions Disease Specific Reference Population Classification (e.g., Core) Version Number Version Date CRF Name (CRF Module / Guideline) Sub Domain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C58587 Structural epilepsy etiology type StructuralEpilEtioTyp The categorization for structural etiology of epilepsy The categorization for structural etiology of epilepsy Structural Traumatic brain injury;Stroke;Intraventricular hemorrhage;Hypoxic-ischemic encephalopathy;Other metabolic or toxic insults;Neurocutaneous syndromes;Inborn errors of metabolism;Developmental/epileptic encephalopathy of unknown cause;Malformations of cortical or other brain development with or without known genetic determinants;Neoplasia;Dementia;Other degenerative neurologic diseases;Mesial Temporal Sclerosis;Structural, other Traumatic brain injury;Stroke;Intraventricular hemorrhage;Hypoxic-ischemic encephalopathy;Other metabolic or toxic insults;Neurocutaneous syndromes (e.g., tuberous sclerosis, neurofibromatosis);Inborn errors of metabolism;Developmental/epileptic encephalopathy of unknown cause as evidenced by the presence of intellectual disability, cerebral palsy, or autism with no evidence of a specific insult of disorder to which cause can be attributed preceding the onset of epilepsy;Malformations of cortical or other brain development with or without known genetic determinants;Neoplasia;Dementia;Other degenerative neurologic diseases;Mesial Temporal Sclerosis;Structural, other (e.g., encephalocele, structural abnormality of unknown cause) Alphanumeric

If structural etiology, select the specific type. Etiologies that are both genetic and structural will be captured under genetic, not otherwise specified

Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, MoshÉ SL, Nordli D, Plouin P, Scheffer IE. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010;51(4):676–685. https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2010.02522.x Adult;Pediatric Supplemental-Highly Recommended 1.00 2018-10-10 11:34:22.0 Classification of Etiology Classification Disease/Injury Related Events

Single Pre-Defined Value Selected

C58605 Metabolic toxic epilepsy etiology type MetabolToxicEpilEtioTyp The categorization for metabolic toxic etiology of epilepsy The categorization for metabolic toxic etiology of epilepsy Metabolic/toxic Inborn errors of metabolism;Other metabolic or toxic insults Inborn errors of metabolism;Other metabolic or toxic insults Alphanumeric

If metabolic toxic etiology, select the specific type.

Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, MoshÉ SL, Nordli D, Plouin P, Scheffer IE. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010;51(4):676–685. https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2010.02522.x Adult;Pediatric Supplemental-Highly Recommended 1.00 2018-10-10 15:40:18.0 Classification of Etiology Classification Disease/Injury Related Events

Single Pre-Defined Value Selected

C58606 Other epilepsy etiology type OtherEpilEtioTyp The categorization for other etiology of epilepsy The categorization for other etiology of epilepsy Other Immune;Infectious;Unknown Immune;Infectious(viral, bacterial, parasitic);Unknown (epilepsy of unknown cause, without relevant abnormalities on examination, coginition, history or imaging) Alphanumeric

If other etiology, select the specific type.

Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, MoshÉ SL, Nordli D, Plouin P, Scheffer IE. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010;51(4):676–685. https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2010.02522.x Adult;Pediatric Supplemental-Highly Recommended 1.00 2018-10-10 15:50:51.0 Classification of Etiology Classification Disease/Injury Related Events

Single Pre-Defined Value Selected

C14425 Epilepsy etiology specific attribution confidence type EpilepsyEtioSpecAttrbConfidTyp The level of confidence attributed to the categorizing of specific etiology of epilepsy to genetic or presumed genetic, structural, metabolic, immune, infectious or unknown factors. The level of confidence attributed to the categorizing of specific etiology of epilepsy to genetic or presumed genetic, structural, metabolic, immune, infectious or unknown factors. Present? No;Possible;Probable;Definite;Unknown;N/A No;Possible;Probable;Definite;Unknown;N/A Alphanumeric

If more than one etiology is present, please identify each plausible etiology (e.g., patient had a traumatic brain injury with loss of consciousness, but also had a known CNS abscess If one etiology could be considered as fitting in two different categories, please check boxes for BOTH categories. Examples include 1) Tuberous Sclerosis Complex, which is both structural and genetic and 2) Glut-1 deficiency which is both metabolic and genetic No = Not present; Possible = The summary of evidence suggests less than 50% confidence level; Probable = the summary of evidence sugests greater than 50% confidence level; Definite = The summary of evidence suggests 100% confidence level; Unknown = The summary of evidence is not suffiecient to support a finding; N/A = Not Applicable; to be used at the discretion fo the Principal Investigator based on study design.

Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010 Apr;51(4):676-85. http://www.ilae-epilepsy.org/Visitors/Centre/ctf/ctfoverview.cfm Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-08-28 16:08:00.453 Classification of Etiology Classification Disease/Injury Related Events

Single Pre-Defined Value Selected

C14426 Epilepsy etiology primary type EpilEtioPrimryTyp Primary etiologic cause for epilepsy when multiple etiologies are present (i.e., more than one etiology, as described by the International League Against Epilepsy, is coded as definite or possible). Primary etiologic cause for epilepsy when multiple etiologies are present. Primary Cause Idiopathic generalized with known syndrome;Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome;Known genetic mutation with or without developmental /epileptic encephalopathy or known disease/syndrome linked to genetic mutation;Focal epilepsy with or without a known proven mutation;Genetic epilepsies not otherwise specified;Traumatic brain injury;Stroke;Intraventricular hemorrhage;Hypoxic-ischemic encephalopathy;Neurocutaneous syndromes;Developmental/epileptic encephalopathy of unknown cause;Malformations of cortical or other brain development with or without known genetic determinants;Neoplasia;Mesial Temporal Sclerosis;Dementia;Other degenerative neurologic diseases;Structural, other Idiopathic generalized with known syndrome (childhood and juvenile absence epilepsy, juvenile myoclonic epilepsy, generalized GTCS alone);Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome (e.g., Doose Syndrome);Known genetic mutation with or without developmental /epileptic encephalopathy (e.g., CDKL5) or known disease/syndrome linked to genetic mutation (e.g., Dravet syndrome);Focal epilepsy with or without a known proven mutation (e.g., LGI1, ADNFL);Genetic epilepsies not otherwise specified;Traumatic brain injury;Stroke;Intraventricular hemorrhage;Hypoxic-ischemic encephalopathy;Neurocutaneous syndromes (e.g., tuberous sclerosis, neurofibromatosis);Developmental/epileptic encephalopathy of unknown cause as evidenced by the presence of intellectual disability, cerebral palsy, or autism with no evidence of a specific insult of disorder to which cause can be attributed preceding the onset of epilepsy;Malformations of cortical or other brain development with or without known genetic determinants;Neoplasia;Mesial Temporal Sclerosis;Dementia;Other degenerative neurologic diseases;Structural, other (e.g., encephalocele, structural abnormality of unknown cause) Alphanumeric

If more than one specific etiology is selected, specify: If more than one etiology has been coded as definite or possible, then a primary cause must be selected. Choose the letter corresponding to the etiology for the primary cause (e.g., c would be chosen if the primary cause was stroke).

Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010 Apr;51(4):676-85. http://www.ilae-epilepsy.org/Visitors/Centre/ctf/ctfoverview.cfm Adult;Pediatric Supplemental-Highly Recommended 1.00 2012-10-05 00:00:00.0 Classification of Etiology Classification Disease/Injury Related Events

Single Pre-Defined Value Selected

C14427 Epilepsy etiology secondary type EpilEtioSecondaryTyp Secondary etiologic cause for epilepsy when multiple etiologies are present (i.e., more than one etiology, as described by the International League Against Epilepsy, is coded as definite or possible). Secondary etiologic cause for epilepsy when multiple etiologies are present. Secondary Cause Idiopathic generalized with known syndrome;Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome;Known genetic mutation with or without developmental /epileptic encephalopathy or known disease/syndrome linked to genetic mutation;Focal epilepsy with or without a known proven mutation;Genetic epilepsies not otherwise specified;Traumatic brain injury;Stroke;Intraventricular hemorrhage;Hypoxic-ischemic encephalopathy;Neurocutaneous syndromes;Developmental/epileptic encephalopathy of unknown cause;Malformations of cortical or other brain development with or without known genetic determinants;Neoplasia;Mesial Temporal Sclerosis;Dementia;Other degenerative neurologic diseases;Structural, other Idiopathic generalized with known syndrome (childhood and juvenile absence epilepsy, juvenile myoclonic epilepsy, generalized GTCS alone);Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome (e.g., Doose Syndrome);Known genetic mutation with or without developmental /epileptic encephalopathy (e.g., CDKL5) or known disease/syndrome linked to genetic mutation (e.g., Dravet syndrome);Focal epilepsy with or without a known proven mutation (e.g., LGI1, ADNFL);Genetic epilepsies not otherwise specified;Traumatic brain injury;Stroke;Intraventricular hemorrhage;Hypoxic-ischemic encephalopathy;Neurocutaneous syndromes (e.g., tuberous sclerosis, neurofibromatosis);Developmental/epileptic encephalopathy of unknown cause as evidenced by the presence of intellectual disability, cerebral palsy, or autism with no evidence of a specific insult of disorder to which cause can be attributed preceding the onset of epilepsy;Malformations of cortical or other brain development with or without known genetic determinants;Neoplasia;Mesial Temporal Sclerosis;Dementia;Other degenerative neurologic diseases;Structural, other (e.g., encephalocele, structural abnormality of unknown cause) Alphanumeric

If more than one specific etiology is selected, specify: If more than one etiology has been coded as definite or possible, then a secondary cause must be selected. Choose the letter corresponding to the etiology for the secondary cause (e.g., b would be chosen if the secondary cause was traumatic brain injury).

Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010 Apr;51(4):676-85. http://www.ilae-epilepsy.org/Visitors/Centre/ctf/ctfoverview.cfm Adult;Pediatric Supplemental-Highly Recommended 1.00 2012-10-05 00:00:00.0 Classification of Etiology Classification Disease/Injury Related Events

Single Pre-Defined Value Selected

C58580 Specific epilepsy etiology classification type SpecEpilepsyEtioClassTyp The categorization for etiology of epilepsy as linked to identified genetic or presumed genetic, structural, metabolic, immune, infectious or unknown causes. Genetic (or presumed) causes of epilepsy are understood to be the direct result of a known or presumed genetic defect(s) in which seizures are the core symptom of the disorder. Unknown cause is meant to be taken neutrally and to designate that the nature of the underlying cause is not yet unknown. Structural, metabolic, immune or infectious causes are due to a distinct condition that has been associated with substantially increased risk of developing epilepsy as demonstrated in appropriately designed studies. The categorization for etiology of epilepsy as linked to identified genetic or presumed genetic, structural, metabolic, immune, infectious or unknown causes. Genetic (or presumed) causes of epilepsy are understood to be the direct result of a known or pre Specific Etiology Genetic or presumed genetic;Structural;Metabolic/toxic;Other Genetic or presumed genetic;Structural;Metabolic/toxic;Other Alphanumeric

No instructions available.

Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, MoshÉ SL, Nordli D, Plouin P, Scheffer IE. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010;51(4):676–685. https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2010.02522.x Adult;Pediatric Core 1.00 2018-10-09 15:20:37.0 Classification of Etiology Classification Disease/Injury Related Events

Single Pre-Defined Value Selected

C58582 Genetic presumed genetic epilepsy etiology type GeneticPresumeGenEpilEtioTyp The categorization for genetic or presumed genetic etiology of epilepsy The categorization for genetic or presumed genetic etiology of epilepsy Genetic or presumed genetic Idiopathic generalized with known syndrome;Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome;Known genetic mutation with or without developmental /epileptic encephalopathy or known disease/syndrome linked to genetic mutation;Focal epilepsy with or without a known proven mutation;Genetic epilepsies not otherwise specified Idiopathic generalized with known syndrome (childhood and juvenile absence epilepsy, juvenile myoclonic epilepsy, generalized GTCS alone);Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome (e.g., Doose Syndrome);Known genetic mutation with or without developmental /epileptic encephalopathy (e.g., CDKL5) or known disease/syndrome linked to genetic mutation (e.g., Dravet syndrome);Focal epilepsy with or without a known proven mutation (e.g., LGI1, ADNFL);Genetic epilepsies not otherwise specified Alphanumeric

If genetic or presumed genetic etiology, specify type. Etiologies that are both genetic and structural will be captured under genetic, not otherwise specified

Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, MoshÉ SL, Nordli D, Plouin P, Scheffer IE. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010;51(4):676–685. https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2010.02522.x Adult;Pediatric Supplemental-Highly Recommended 1.00 2018-10-10 08:51:10.0 Classification of Etiology Classification Disease/Injury Related Events

Single Pre-Defined Value Selected

CSV