{"orpha":101030,"name":"Subependymal nodular heterotopia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-101030/","orphanet_url":"https://www.orpha.net/en/disease/detail/101030","names":{"fr":{"name":"Hétérotopie nodulaire sous-épendymaire"},"de":{"name":"Heterotopie, noduläre subependymale"},"es":{"name":"Heterotopia nodular subependimal"},"it":{"name":"Eterotopia nodulare sottoependimale"},"nl":{"name":"Subependymale nodulaire heterotopie"},"pt":{"name":"Heterotopia nodular subependimária"},"pl":{"name":"Podwyściółkowa heterotopia guzkowa"},"cs":{"name":"Subependymální nodulární heterotopie"},"uk":{"name":"Субепендимальна вузлова гетеротопія"},"zh":{"name":"室管膜下结节性异位症"},"tr":{"name":"Subepandimal nodüler heterotopi"}},"xrefs":[{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1752491379"},{"source":"MONDO","code":"0015094","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3160906","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5050","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071150","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2149,"name":"Nodular neuronal heterotopia","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-24","source":"21513859[PMID]_24148591[PMID]_17035053[PMID]_31559780[PMID]","terms":[{"hpo":"HP:0003330","label":"Abnormal bone structure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0430005","label":"Abnormality of ethmoid bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002349","label":"Focal aware seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032046","label":"Focal cortical dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011818","label":"Nasofrontal encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002085","label":"Occipital encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000290","label":"Abnormality of the forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011195","label":"EEG with focal sharp slow waves","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012013","label":"EEG with temporal focal spike waves","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025373","label":"Interictal EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001338","label":"Partial agenesis of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002057","label":"Prominent glabella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Occasional (29-5%)","criteria":null}]}}