Value sets EIS – epilepsy aetiology

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Epilepsy aetiology

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Concept IDDescription
76880004 Angelman syndrome
1409100912p partial trisomy syndrome
69925400915q13.3 microdeletion
6993060031p36 deletion syndrome
403757004 Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn)
1259087007Autoimmune encephalitis caused by N-methyl-D-aspartate receptor antibody
95883001Bacterial meningitis
445359003 Bacterial meningoencephalitis
8808004Biotinidase deficiency
1237417007CAD-CDG – carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation
722386009Celiac disease with epilepsy and cerebral calcification syndrome
234142008Cerebral arteriovenous malformation
711403001Cerebral folate transport deficiency
53622003Cerebral malaria
230690007Cerebrovascular accident
768663003CLCN2-related leucoencephalopathy
1230376005CNTNAP2-related developmental and epileptic encephalopathy
778060000COL4A1-related familial vascular leucoencephalopathy
1172844009Combined oxidative phosphorylation defect type 27
41040004Complete trisomy 21 syndrome
773230003CDKL5 developmental and epileptic encephalopathy
187148002Cysticercosis of central nervous system
28944009Cytomegalovirus infection
124239003Deficiency of guanidinoacetate methyltransferase
124174008Deficiency of pyridoxamine-phosphate oxidase
270889005Deletion of long arm of chromosome 18
1196837008Dysembryoplastic neuroepithelial neoplasm of brain
770431001Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
733082001Early-onset Lafora body disease
778029000FASTKD2-related infantile mitochondrial encephalomyopathy
1237619001Fatty acyl-CoA reductase 1 deficiency
1348304006Fibrosis, neurodegeneration, cerebral angiomatosis syndrome
717276003Folinic acid responsive developmental and epileptic encephalopathy
702450004FOXG1 syndrome
613003Fragile X syndrome
87191000119100Ganglioglioma
445252005Glucose transporter protein type 1 deficiency syndrome
253170008Hemimegalencephaly
702783007Heterozygous protocadherin 19 gene mutation detected
360369003Holocarboxylase synthase deficiency
86406008Human immunodeficiency virus infection
766932005Hypothalamic hamartoma with gelastic seizure
230791000Hypothalamic neuronal hamartoma
703300001Hypoxic ischemic encephalopathy
10087007Infection caused by Schistosoma
406619001Infection caused by Toxocara
723332005 Isodicentric chromosome 15 syndrome
39925003Juvenile myopathy, encephalopathy, lactic acidosis, stroke
778001003KCNQ2 developmental and epileptic encephalopathy
22053006Klinefelter syndrome
763794005Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
204036008Lissencephaly
770560008Lissencephaly due to LIS1 mutation
718759003Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
253154006Localized cortical dysplasia
23502006Lyme disease
1269516003Lyme neuroborreliosis
1296869000MECP2 related disorder
770643005Mesial temporal lobe epilepsy with hippocampal sclerosis
4945003Microgyria
253148005Miller Dieker syndrome
240096000Mitochondrial cytopathy
703535000Mowat-Wilson syndrome
230426003Myoclonic epilepsy with ragged red fibres
448041008Neuronal heterotopia
737037004PIK3CA related overgrowth syndrome
702344008Pitt-Hopkins syndrome
65705009Porencephalic cyst
724576005Pyridoxal 5-phosphate dependent epilepsy
734434007Pyridoxine-dependent epilepsy
230191005Rasmussen syndrome
702345009Ring chromosome 14 syndrome
23686004Ring chromosome 20 syndrome
1222659003RNF13-related severe early-onset epileptic encephalopathy
253159001Schizencephaly
778002005SCN2A encephalopathy
765170001SCN8A developmental and epileptic encephalopathy
771516000Solute carrier family 35 member A2 congenital disorder of glycosylation
771271000Steroid-responsive encephalopathy associated with autoimmune thyroiditis
19886006Sturge-Weber syndrome
768666006STXBP1 developmental and epileptic encephalopathy
1222656005SYNGAP1-related developmental and epileptic encephalopathy
9527009Tetrasomy 12p syndrome
192701001Toxoplasma encephalitis
127295002Traumatic brain injury
56717001 Tuberculosis
7199000Tuberous sclerosis syndrome
230423006Unverricht-Lundborg syndrome
34476008Viral encephalitis
717223008X-linked epilepsy with learning disability and behaviour disorder syndrome
725163002X-linked spasticity, intellectual disability, epilepsy syndrome
88469006Zellweger syndrome
238061001Neonatal adrenoleukodystrophy

CHAT theory also explicitly addresses five areas which if addressed systematically will help overcome stakeholder differences in pursuit of the common goal:

1. Understanding the artefacts that characterise the group and its activity.
• The artefacts might be clinical settings or the forms and templates used to capture and share information. During the pilot we heard about hard copy Dialog response forms; locally generated templates for collating information from different systems; letters and emails to GPs; images, poems or other non-text artefacts that service users might want to include in their ‘about me’ or care plan.

2. Understanding the multi-views of the group. Such groups are always a community of multiple points of view, traditions and interests. 
• Different participants in the group will have different roles and will bring to the group and their roles their own histories, language, and ‘rules’. During our Stocktake preparations and workshops we worked with psychiatrists, mental health nurses, occupational therapists, social workers, transformation leads and voluntary sector representatives, all professions and interests with their own language, approaches professional ‘rules’ but united in their interest in care plans, care planning.

3. Activity systems (like the ICSs) take shape and get transformed over periods of time. ‘Historicity’ is a term coined to express how the group’s problems and potentials can only be understood against their own history. 

 

• ‘We’ve always done it this way’, ‘that didn’t work before’, ‘it’s always like this’, ‘it wasn’t always like this’, ‘they are changing things again’, are all typical statements that often frustrate those charged with overseeing change initiatives. Without addressing the experiences that lie behind such comments you risk repeating mistakes of the past, alienating your stakeholders or just not understanding the real starting point for your transformation project. This is particularly the case for the implementation of the PCSP standard, the success of which will be largely reliant on point-of-care practices and information protocols as well as having systems which are user friendly and appropriately configured.

4. The central role of contradictions as sources of change and development. Contradictions are not the same as problems or conflicts. Contradictions are historically accumulating structural tensions within and between activity systems. Collectively addressing contradictions in how policy, practice, culture and technology interact will empower teams to find genuinely novel solutions for apparently intractable challenges, like interoperability and shared care plan/planning. 

This links to the fifth principle that:

5. the possibility of expansive transformations in activity systems. As the contradictions of an activity system are aggravated, some individual participants begin to question and deviate from its established norms. In some cases, this escalates into collaborative envisioning and a deliberate collective change effort. “An expansive transformation is accomplished when the object and motive of the activity are re-conceptualised to embrace a radically wider horizon of possibilities than in the previous mode of the activity.”