{"orpha":155884,"name":"Coloboma of superior eyelid","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Superior palpebral coloboma"],"definition":"Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-155884/","orphanet_url":"https://www.orpha.net/en/disease/detail/155884","names":{"fr":{"name":"Colobome de la paupière supérieure","synonyms":["Colobome palpébral supérieur"],"definition":"Le colobome de la paupière supérieure est un trouble rare du développement au cours de l'embryogenèse. Il se caractérise typiquement par une malformation de la paupière supérieure, de taille variable, allant d'une petite fente à l'absence complète de toute la paupière. Il est habituellement unilatéral, partiel ou complet. Il est généralement de forme triangulaire (la base se trouvant au niveau de la bordure de la paupière), et situé dans le tiers médian de celle-ci. Il peut survenir de manière isolé, être associé à d'autres anomalies (oculaires/oculaires et faciales), ou faire partie d'un syndrome."},"de":{"name":"Kolobom des Oberlides","synonyms":["Lidkolobom, superior"],"definition":"Das Kolobom des oberen Augenlids ist ein seltener Entwicklungsdefekt während der Embryogenese, der durch einen typischerweise einseitigen, partiellen oder vollflächigen, unterschiedlich großen Defekt des oberen Augenlids gekennzeichnet ist, der von einer kleinen Kerbe bis zum vollständigen Fehlen des gesamten Lids reicht, in der Regel eine dreieckige Form hat (mit Basis am Lidrand) und im medialen Drittel des Lids liegt. Er kann isoliert, in Verbindung mit anderen Anomalien (z. B. okulär/orbital und fazial) oder als Teil eines Syndroms auftreten."},"es":{"name":"Coloboma del párpado superior","synonyms":["Coloboma palpebral superior"],"definition":"El coloboma del párpado superior es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por un defecto típicamente unilateral de tamaño variable del párpado superior, de espesor parcial o total, variando desde una pequeña hendidura a la ausencia completa del párpado, que por lo general es de forma triangular (con base en el margen del párpado) y localizado en el tercio medio del párpado. Puede presentarse aislado, asociado a otras anomalías (p.ej. ocular/orbital y facial) o formando parte de un síndrome."},"it":{"name":"Coloboma della palpebra superiore","synonyms":["Coloboma palpebrale superiore"],"definition":"Il coloboma della palpebra superiore è un difetto raro dello sviluppo dell'embrione, caratterizzato da un difetto della palpebra superiore, di solito monolaterale, di dimensioni variabili, che interessa una parte o a tutto spessore la palpebra , con espressione variabile tra una fissurazione fino all'agenesia completa della palpebra; di solito ha la forma di un triangolo la cui base è rappresentata dal margine della palpebra; in genere il difetto si localizza nel terzo medio della palpebra. Può essere isolato, oppure si associa ad altre anomalie (oculari/orbitali e facciali) o fa parte di una sindrome."},"nl":{"name":"Coloboom van bovenste ooglid","synonyms":["Superieur palpebraal coloboom"],"definition":"Coloboom van het bovenste ooglid is een zeldzaam ontwikkelingsdefect tijdens de embryogenese en wordt gekarakteriseerd door een doorgaans unilateraal defect van het bovenste ooglid, dat een gedeeltelijke of volledige dikte en een variabele omvang heeft (gaande van een kleine inkeping tot volledige afwezigheid van het hele ooglid), dat meestal een driehoekige vorm heeft (met de basis aan de rand van het ooglid), en zich doorgaans situeert op het mediale derde deel van het ooglid. Het kan geïsoleerd voorkomen, geassocieerd met andere anomalieën (e.g. oculair/orbitaal en faciaal), of als onderdeel van een syndroom."},"pt":{"name":"Coloboma da pálpebra superior"},"pl":{"name":"Szczelina górnej powieki","synonyms":["Szczelina górnej powieki"]},"cs":{"name":"Kolobom horního víčka","synonyms":["Coloboma palpebrae superior"]},"uk":{"name":"Колобома верхньої повіки","synonyms":["Верхня пальпебральна колобома"],"definition":"Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome."},"zh":{"name":"上眼睑缺损","synonyms":["上眼睑缺损"],"definition":"上眼睑缺损是一种罕见的胚胎发育缺陷，其特征是通常为上眼睑单侧、部分或全层缺损，上眼睑缺损程度从一个小切口到整个眼睑完全缺失不等，通常缺损呈三角形（基底部在眼睑边缘），位于眼睑内侧三分之一处。可单独发生，或与其他异常（如眼/眶和面部）相关，或作为综合征的一部分。"},"tr":{"name":"Üst göz kapağının koloboması","synonyms":["Süperior palpebral kolobom"]}},"xrefs":[{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015480","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863872","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":141253,"name":"Oblique facial cleft","classifications":[147,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}