{"orpha":502318,"name":"Cochlear nerve deficiency","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-502318/","orphanet_url":"https://www.orpha.net/en/disease/detail/502318","names":{"fr":{"name":"Dysplasie du nerf cochléaire","definition":"Malformation othorinolaryngologique rare caractérisée par une hypoplasie ou une agénésie du nerf cochléaire, entraînant une perte partielle ou totale de l'audition, dont la sévérité varie selon le nombre de fibres nerveuses encore fonctionnelles. La maladie peut être unilatérale ou bilatérale, se manifester sous la forme d'une malformation isolée ou d'un syndrome complexe, et peut être associée à une hypoplasie du canal auditif interne ou du nerf cochléaire."},"de":{"name":"Hypo-/Aplasie des Nervus cochlearis","synonyms":["Defizienz des Hörnerven"],"definition":"Eine seltene otorhinolaryngologische Fehlbildung, die durch einen hypoplastischen oder fehlenden Nervus cochlearis gekennzeichnet ist und je nach Anzahl der vorhandenen Nervenfasern zu unterschiedlichem Hörverlust oder völliger Taubheit führt. Die Erkrankung kann ein- oder beidseitig sein, als isolierte Fehlbildung oder im Rahmen eines komplexen Syndroms auftreten und mit einem hypoplastischen inneren Gehör- oder Cochlea-Nervenkanal verbunden sein."},"es":{"name":"Deficiencia del nervio coclear","definition":"Es una malformación otorrinolaringológica poco frecuente caracterizada por hipoplasia o ausencia del nervio coclear, resultante en una pérdida auditiva variable o en sordera total, según la cantidad de fibras nerviosas presentes preservadas. La afección puede ser unil- o bilateral, presentándose como una malformación aislada o en el contexto de un síndrome complejo, pudiendo estar asociada a hipoplasia del conducto auditivo interno o del nervio coclear."},"it":{"name":"Deficit del nervo cocleare","definition":"Si tratta di una malformazione rara di interesse otorinolaringoiatrico, caratterizzata dall'ipoplasia o dalla aplasia del nervo cocleare, che si associa a un deficit variabile dell'udito o alla sordità completa, a seconda del numero di fibre nervose presenti. La malformazione può essere mono- o bilaterale, isolata o fare parte di una sindrome complessa. Può associarsi all'ipoplasia del canale uditivo interno o del nervo cocleare."},"nl":{"name":"Deficiëntie van nervus cochlearis","definition":"Een zeldzame otorinolaryngologische malformatie, gekarakteriseerd door een hypoplastische of afwezige nervus cochlearis, wat leidt tot variabel gehoorverlies of volledige doofheid, afhankelijk van het aantal zenuwvezels dat aanwezig is. De aandoening kan be uni- of bilateraal zijn, voorkomen als een geïsoleerde malformatie of in de context van een complex syndroom, en is mogelijk geassocieerd met een hypoplastische inwendige gehoorgang of hypoplastisch cochleaire zenuwkanaal."},"pt":{"name":"Deficiência do nervo coclear"},"pl":{"name":"Niedorozwój nerwu ślimakowego"},"cs":{"name":"Deficit kochleárního nervu"},"uk":{"name":"Недостатність кохлеарного нерва","definition":"A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal."},"zh":{"name":"耳蜗神经缺损","definition":"一种罕见的耳鼻喉科畸形，其特点是耳蜗神经发育不全或缺如，导致不同程度的听力损失或全聋，这取决于存在的神经纤维数量。这种情况可以是单侧或双侧的，可以是孤立性畸形，也可以是复杂的综合征，可能与内耳或耳蜗神经管发育不全有关。"},"tr":{"name":"Koklear sinir eksikliği"}},"xrefs":[{"source":"ICD-10","code":"H93.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"AB72.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0034733","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568535","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":164004,"name":"Middle and/or inner ear anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}