{"orpha":90056,"name":"Moderate and severe traumatic brain injury","type":"Particular clinical situation in a disease or syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neurologic condition characterized by brain damage caused by an external mechanical force, with a Glasgow Coma Scale score of 9 to 12 in moderate traumatic brain injury (TBI), or 3 to 8 in severe TBI, respectively. TBI can be closed (with the dura mater remaining intact) or open (with penetration of the dura mater) and may lead to focal damage, such as cerebral contusion and hemorrhage, as well as diffuse axonal injury and secondary damage due to increased intracranial pressure. Signs and symptoms are highly variable, depending on the nature, severity, localization, and extent of the trauma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90056/","orphanet_url":"https://www.orpha.net/en/disease/detail/90056","names":{"fr":{"name":"Lésion traumatique modérée ou sévère du cerveau","definition":"Maladie neurologique rare caractérisée par une lésion cérébrale due à une énergie mécanique résultant d'une force physique externe et par un score compris entre 9 et 12 sur l'échelle de Glasgow en cas de lésion traumatique du cerveau (TBI pour traumatic brain injury) modérée ou entre 3 et 8 en cas de TBI sévère. La TBI peut être fermée (la dure-mère reste intacte) ou pénétrante (la pénétration atteint la dure-mère) et peut entraîner des lésions focales, telles qu'une contusion corticale et une hémorragie, ainsi qu'une lésion axonale diffuse et des lésions secondaires dues à l'augmentation de la pression intracrânienne. Les signes et symptômes sont très variables, dépendant de la nature, de la sévérité, de la localisation et de l'ampleur du traumatisme."},"de":{"name":"Mittelschweres und schweres Schädel-Hirntrauma","definition":"Eine seltene neurologische Schädigung, bei der das Gehirn durch eine äußere mechanische Einwirkung verletzt wird, mit einem Glasgow Coma Scale Score von 9 bis 12 bei einem mittelschweren Schädel-Hirn-Trauma (TBI) bzw. 3 bis 8 bei einem schweren TBI. Ein Schädel-Hirn-Trauma kann geschlossen (mit intakter Dura mater) oder offen (mit Durchdringung der Dura mater) sein und zu fokalen Schäden wie Hirnkontusionen und Hirnblutungen sowie zu diffusen axonalen Schäden und Sekundärschäden aufgrund eines erhöhten Hirndrucks führen. Die Anzeichen und Symptome sind je nach Art, Schwere, Lokalisierung und Ausmaß des Traumas sehr unterschiedlich."},"es":{"name":"Daño cerebral traumático de moderado a grave","definition":"Es una condición neurológica poco frecuente caracterizada por daño cerebral causado por una fuerza mecánica externa, con una puntuación en la Escala de Coma de Glasgow de 9 a 12 en la lesión cerebral traumática (TBI) moderada y de 3 a 8 en la TBI grave. El traumatismo craneoencefálico puede ser cerrado (con la duramadre intacta) o abierto (con penetración de la duramadre) y puede provocar daños focales, como contusión y hemorragia cerebral, así como lesiones axonales difusas y daños secundarios debidos al aumento de la presión intracraneal. Los signos y síntomas son muy variables, dependiendo de la naturaleza, gravedad, localización y extensión del traumatismo."},"it":{"name":"Lesioni cerebrali traumatiche moderate e gravi","definition":"Si tratta di una malattia neurologica rara, caratterizzata da un danno cerebrale causato da una forza meccanica esterna, con un punteggio secondo la Glasgow Coma Scale compreso tra 9 e 12 in caso di lesione cerebrale traumatica (TBI) moderata, o tra 3 e 8 in caso di TBI grave. La TBI può essere chiusa (con la dura madre intatta) o aperta (con penetrazione della dura madre) e può provocare danni focali, come la contusione e l'emorragia cerebrale, lesioni assonali diffuse, e danni secondari all'aumento della pressione intracranica. I segni clinici sono molto variabili e dipendono dalla natura, dalla gravità, dalla localizzazione e dall'estensione del trauma."},"nl":{"name":"Matig en ernstig traumatisch hersenletsel","definition":"Een zeldzame neurologische aandoening, gekenmerkt door hersenletsel veroorzaakt door een uitwendige mechanische kracht, met een score van 9 tot 12 op de Glasgow-coma bij matig traumatisch hersenletsel, of 3 tot 8 bij ernstig hersenletsel. Het hersenletsel kan gesloten (met intacte dura mater) of open (met penetratie van dura mater) zijn, en kan leiden tot focale schade, zoals cerebrale kneuzing en hemorragie, alsook diffuus axonaal letsel en secundaire schade door verhoogde intracraniële druk. Verschijnselen en symptomen zijn zeer variabel, afhankelijk van de aard, ernst, lokalisatie, en omvang van het trauma."},"pt":{"name":"Lesão cerebral traumática moderada a grave"},"pl":{"name":"Umiarkowany lub ciężki uraz mózgu"},"cs":{"name":"Středně těžké a těžké traumatické poranění mozku"},"uk":{"name":"Черепно-мозкова травма середнього та тяжкого ступеня тяжкості","definition":"A rare neurologic condition characterized by brain damage caused by an external mechanical force, with a Glasgow Coma Scale score of 9 to 12 in moderate traumatic brain injury (TBI), or 3 to 8 in severe TBI, respectively. TBI can be closed (with the dura mater remaining intact) or open (with penetration of the dura mater) and may lead to focal damage, such as cerebral contusion and hemorrhage, as well as diffuse axonal injury and secondary damage due to increased intracranial pressure. Signs and symptoms are highly variable, depending on the nature, severity, localization, and extent of the trauma."},"zh":{"name":"中重度外伤性脑损伤"},"tr":{"name":"Orta ve ağır travmatik beyin hasarı"}},"xrefs":[{"source":"ICD-10","code":"S06.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"S06.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"S06.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"S06.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"S06.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"S06.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"S06.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"S06.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"S06.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5681362","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":37.8,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"}],"phenotypes":null}