rdf:type |
|
calbc:hasCorrelation |
|
skos:exactMatch |
|
skos:definition |
CSP: hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked.,MEDLINEPLUS: <p>Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to worsen over time. It is the most common condition that involves both hearing and vision problems. </p><p>There are three types of Usher syndrome: </p><ul><li> People with type I are deaf from birth and have severe balance problems from a young age. Vision problems usually develop by age 10 and lead to blindness.</li><li> People with type II have moderate to severe hearing loss and normal balance. Vision problems develop in the early teens and progress more slowly than in type I.</li><li> People with type III are born with normal hearing and near-normal balance but develop v
|
skos:inScheme |
|
skos:broader |
|
skos:narrower |
umls-concept:C1568248,
umls-concept:C1568249,
umls-concept:C1847089,
umls-concept:C1848604,
umls-concept:C1848634,
umls-concept:C1865865,
umls-concept:C1865885,
umls-concept:C2675458,
umls-concept:C2931205,
umls-concept:C2931206,
umls-concept:C2931207,
umls-concept:C2931208,
umls-concept:C2931209,
umls-concept:C2931210,
umls-concept:C2931212,
umls-concept:C2931213,
umls-concept:C3494509
|
skos-xl:prefLabel |
|
skos-xl:altLabel |
umls-label:A0814962,
umls-label:A0814963,
umls-label:A11929553,
umls-label:A11958321,
umls-label:A11958322,
umls-label:A11972565,
umls-label:A12029840,
umls-label:A15662684,
umls-label:A1703421,
umls-label:A1703720,
umls-label:A1703756,
umls-label:A1703782,
umls-label:A1704034,
umls-label:A1704068,
umls-label:A1704613,
umls-label:A17700918,
umls-label:A17921247,
umls-label:A17945042,
umls-label:A17993173,
umls-label:A18562203,
umls-label:A18562204,
umls-label:A18617804,
umls-label:A18654966,
umls-label:A18654967,
umls-label:A18673497,
umls-label:A18691982,
umls-label:A19578816,
umls-label:A19580925,
umls-label:A19583081,
umls-label:A19591507,
umls-label:A19593634,
umls-label:A20021656,
umls-label:A8423181,
umls-label:A8423188,
umls-label:A8424799,
umls-label:A8424800
|
umls:relation |
http://linkedlifedata.com/resource/umls/relation/R05675603,
http://linkedlifedata.com/resource/umls/relation/R05675601,
http://linkedlifedata.com/resource/umls/relation/R05675602,
http://linkedlifedata.com/resource/umls/relation/R00896581,
http://linkedlifedata.com/resource/umls/relation/R00896579,
http://linkedlifedata.com/resource/umls/relation/R00896580,
http://linkedlifedata.com/resource/umls/relation/R43979309,
http://linkedlifedata.com/resource/umls/relation/R44008441,
http://linkedlifedata.com/resource/umls/relation/R44008442,
http://linkedlifedata.com/resource/umls/relation/R44008443,
http://linkedlifedata.com/resource/umls/relation/R44008473,
http://linkedlifedata.com/resource/umls/relation/R05741327,
http://linkedlifedata.com/resource/umls/relation/R44008446,
http://linkedlifedata.com/resource/umls/relation/R44008447,
http://linkedlifedata.com/resource/umls/relation/R44008449,
http://linkedlifedata.com/resource/umls/relation/R44008434,
http://linkedlifedata.com/resource/umls/relation/R44008451,
http://linkedlifedata.com/resource/umls/relation/R44008448,
http://linkedlifedata.com/resource/umls/relation/R44008435,
http://linkedlifedata.com/resource/umls/relation/R44008467,
http://linkedlifedata.com/resource/umls/relation/R44008450,
http://linkedlifedata.com/resource/umls/relation/R44008469,
http://linkedlifedata.com/resource/umls/relation/R44008476,
http://linkedlifedata.com/resource/umls/relation/R05741328,
http://linkedlifedata.com/resource/umls/relation/R44008453,
http://linkedlifedata.com/resource/umls/relation/R44008432,
http://linkedlifedata.com/resource/umls/relation/R44008454,
http://linkedlifedata.com/resource/umls/relation/R44008459,
http://linkedlifedata.com/resource/umls/relation/R44008436,
http://linkedlifedata.com/resource/umls/relation/R44008431,
http://linkedlifedata.com/resource/umls/relation/R44008455,
http://linkedlifedata.com/resource/umls/relation/R44008433,
http://linkedlifedata.com/resource/umls/relation/R44008439,
http://linkedlifedata.com/resource/umls/relation/R44008458,
http://linkedlifedata.com/resource/umls/relation/R44008460,
http://linkedlifedata.com/resource/umls/relation/R44008461,
http://linkedlifedata.com/resource/umls/relation/R44008462,
http://linkedlifedata.com/resource/umls/relation/R44008437,
http://linkedlifedata.com/resource/umls/relation/R44008452,
http://linkedlifedata.com/resource/umls/relation/R44008464,
http://linkedlifedata.com/resource/umls/relation/R44008465,
http://linkedlifedata.com/resource/umls/relation/R44008438,
http://linkedlifedata.com/resource/umls/relation/R44008440,
http://linkedlifedata.com/resource/umls/relation/R44008466,
http://linkedlifedata.com/resource/umls/relation/R44008444,
http://linkedlifedata.com/resource/umls/relation/R44008478,
http://linkedlifedata.com/resource/umls/relation/R44008475,
http://linkedlifedata.com/resource/umls/relation/R05741329,
http://linkedlifedata.com/resource/umls/relation/R44008445,
http://linkedlifedata.com/resource/umls/relation/R44008472,
http://linkedlifedata.com/resource/umls/relation/R05741331,
http://linkedlifedata.com/resource/umls/relation/R44008457,
http://linkedlifedata.com/resource/umls/relation/R44008470,
http://linkedlifedata.com/resource/umls/relation/R44008477,
http://linkedlifedata.com/resource/umls/relation/R44008471,
http://linkedlifedata.com/resource/umls/relation/R44008474,
http://linkedlifedata.com/resource/umls/relation/R44008463,
http://linkedlifedata.com/resource/umls/relation/R05741330,
http://linkedlifedata.com/resource/umls/relation/R44008456,
http://linkedlifedata.com/resource/umls/relation/R44008468,
http://linkedlifedata.com/resource/umls/relation/R18721312,
http://linkedlifedata.com/resource/umls/relation/R60661486,
http://linkedlifedata.com/resource/umls/relation/R60545267,
http://linkedlifedata.com/resource/umls/relation/R60661485,
http://linkedlifedata.com/resource/umls/relation/R60617841,
http://linkedlifedata.com/resource/umls/relation/R60486996,
http://linkedlifedata.com/resource/umls/relation/R60501561,
http://linkedlifedata.com/resource/umls/relation/R60589016,
http://linkedlifedata.com/resource/umls/relation/R60559680,
http://linkedlifedata.com/resource/umls/relation/R101250856,
http://linkedlifedata.com/resource/umls/relation/R130963657,
http://linkedlifedata.com/resource/umls/relation/R130963655,
http://linkedlifedata.com/resource/umls/relation/R130963656,
http://linkedlifedata.com/resource/umls/relation/R130958889,
http://linkedlifedata.com/resource/umls/relation/R130958890,
http://linkedlifedata.com/resource/umls/relation/R130958891,
http://linkedlifedata.com/resource/umls/relation/R131022201,
http://linkedlifedata.com/resource/umls/relation/R131022215,
http://linkedlifedata.com/resource/umls/relation/R131022270,
http://linkedlifedata.com/resource/umls/relation/R131022268,
http://linkedlifedata.com/resource/umls/relation/R131022200,
http://linkedlifedata.com/resource/umls/relation/R131022279,
http://linkedlifedata.com/resource/umls/relation/R131022241,
http://linkedlifedata.com/resource/umls/relation/R131022210,
http://linkedlifedata.com/resource/umls/relation/R131022230,
http://linkedlifedata.com/resource/umls/relation/R131022243,
http://linkedlifedata.com/resource/umls/relation/R131022296,
http://linkedlifedata.com/resource/umls/relation/R131022226,
http://linkedlifedata.com/resource/umls/relation/R131022246,
http://linkedlifedata.com/resource/umls/relation/R131022221,
http://linkedlifedata.com/resource/umls/relation/R131022249,
http://linkedlifedata.com/resource/umls/relation/R131022209,
http://linkedlifedata.com/resource/umls/relation/R131022227,
http://linkedlifedata.com/resource/umls/relation/R131022229,
http://linkedlifedata.com/resource/umls/relation/R131022252,
http://linkedlifedata.com/resource/umls/relation/R131022253,
http://linkedlifedata.com/resource/umls/relation/R131022281,
http://linkedlifedata.com/resource/umls/relation/R131022288,
http://linkedlifedata.com/resource/umls/relation/R131022294,
http://linkedlifedata.com/resource/umls/relation/R131022211,
http://linkedlifedata.com/resource/umls/relation/R131022266,
http://linkedlifedata.com/resource/umls/relation/R131022277,
http://linkedlifedata.com/resource/umls/relation/R131022223,
http://linkedlifedata.com/resource/umls/relation/R131022269,
http://linkedlifedata.com/resource/umls/relation/R131022273,
http://linkedlifedata.com/resource/umls/relation/R131022285,
http://linkedlifedata.com/resource/umls/relation/R131022293,
http://linkedlifedata.com/resource/umls/relation/R131022244,
http://linkedlifedata.com/resource/umls/relation/R131022205,
http://linkedlifedata.com/resource/umls/relation/R131022236,
http://linkedlifedata.com/resource/umls/relation/R131022262,
http://linkedlifedata.com/resource/umls/relation/R131022278,
http://linkedlifedata.com/resource/umls/relation/R131022204,
http://linkedlifedata.com/resource/umls/relation/R131022302,
http://linkedlifedata.com/resource/umls/relation/R131022250,
http://linkedlifedata.com/resource/umls/relation/R131022224,
http://linkedlifedata.com/resource/umls/relation/R131022240,
http://linkedlifedata.com/resource/umls/relation/R131022261,
http://linkedlifedata.com/resource/umls/relation/R131022303,
http://linkedlifedata.com/resource/umls/relation/R131022234,
http://linkedlifedata.com/resource/umls/relation/R131022239,
http://linkedlifedata.com/resource/umls/relation/R131022301,
http://linkedlifedata.com/resource/umls/relation/R131022238,
http://linkedlifedata.com/resource/umls/relation/R131022264,
http://linkedlifedata.com/resource/umls/relation/R131022272,
http://linkedlifedata.com/resource/umls/relation/R131022265,
http://linkedlifedata.com/resource/umls/relation/R131022231,
http://linkedlifedata.com/resource/umls/relation/R131022290
|