{"orpha":98959,"name":"Subepithelial mucinous corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SMCD"],"definition":"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98959/","orphanet_url":"https://www.orpha.net/en/disease/detail/98959","names":{"fr":{"name":"Dystrophie cornéenne sous-épithéliale mucineuse","synonyms":["SMCD"],"definition":"La dystrophie cornéenne sous-épithéliale mucineuse (SMCD) est une forme très rare de dystrophie cornéenne superficielle caractérisée par des érosions cornéennes récurrentes fréquentes dans les 10 premières années de vie, avec une perte progressive de la vision."},"de":{"name":"Hornhautdystrophie, muzinöse subepitheliale","synonyms":["SMCD"],"definition":"Die Subepitheliale muzinöse Hornhautdystrophie (SMCD) ist eine sehr seltene Form der oberflächlichen Hornhautdystrophie und gekennzeichnet durch im ersten Lebensjahrzehnt häufig rezidivierende Hornhautläsionen mit fortschreitendem Visusverlust."},"es":{"name":"Distrofia corneal mucinosa subepitelial","synonyms":["SMCD"],"definition":"La distrofia corneal mucinosa subepitelial (SMCD) es una forma muy rara de distrofia corneal subepitelial caracterizada por frecuentes erosiones corneales recurrentes en la primera década de vida, con pérdida de visión progresiva."},"it":{"name":"Distrofia corneale mucinosa subepiteliale","synonyms":["SMCD"],"definition":"La distrofia corneale mucinosa subepiteliale (SMCD) è una forma molto rara di distrofia superficiale della cornea, caratterizzata da erosioni corneali ricorrenti e frequenti nella prima decade di vita, che portano progressivamente alla perdita della vista."},"nl":{"name":"Subepitheliale mucineuze corneadystrofie","synonyms":["SMCD","Subepitheliale mucineuze hoornvliesdystrofie"],"definition":"Subepitheliale mucineuze corneadystrofie (SMCD) is een zeer zeldzame vorm van oppervlakkige corneadystrofie gekenmerkt door frequent terugkerende cornea-erosies in het eerste levensdecennium, met progressief visusverlies."},"pt":{"name":"Distrofia corneana, subepitelial mucinosa"},"pl":{"name":"Podnabłonkowa mucynowa dystrofia rogówki","synonyms":["SMCD"]},"cs":{"name":"Subepitelová mucinózní dystrofie rohovky","synonyms":["SMCD"]},"uk":{"name":"Субепітеліальна муцинозна дистрофія рогівки","synonyms":["SMCD"],"definition":"Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision."},"zh":{"name":"上皮下黏液性角膜营养不良","synonyms":["SMCD"],"definition":"上皮下性粘液性角膜营养不良(SMCD)是一种非常罕见的浅表性角膜营养不良，其特征是十岁之内复发性角膜侵蚀，并伴有进行性视力丧失。"},"tr":{"name":"Subepitelyal müsinöz korneal distrofi","synonyms":["SMCD"]}},"xrefs":[{"source":"OMIM","code":"612867","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"943706174"},{"source":"MONDO","code":"0013026","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567547","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748503","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522562,"name":"Genetic superficial corneal dystrophy","classifications":[156]},{"orpha":98625,"name":"Superficial corneal dystrophy","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"8352693[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}