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770944002: Oculootodental syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5404975012 A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5438060014 A contiguous gene syndrome comprising otodental syndrome (characterised by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3703553016 Oculootodental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3703555011 Oculootodental syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
976171000172117 syndrome oculo-oto-dentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1015831000172119 syndrome OOD (oculo-oto-dentaire) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
173851000274118 Okulo-otodentales Syndrom de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
173861000274115 OOD - Okulo-otodentales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Occurrence Congenital true Inferred relationship Some 2
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Is a Globodontia (disorder) true Inferred relationship Some
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Occurrence Congenital true Inferred relationship Some 3
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Finding site Chromosome pair 11 (cell structure) true Inferred relationship Some 1
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Is a Hearing loss associated with syndrome true Inferred relationship Some
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Occurrence Congenital false Inferred relationship Some 4
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Finding site Long arm of chromosome true Inferred relationship Some 2
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Occurrence Congenital true Inferred relationship Some 1
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Interprets Hearing true Inferred relationship Some 5
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Is a Deletion of part of chromosome 11 (disorder) true Inferred relationship Some
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Associated morphology Congenital enlargement false Inferred relationship Some 4
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Finding site Ear structure true Inferred relationship Some 3
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Finding site Tooth structure true Inferred relationship Some 4
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 4
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Is a Disorder of ear true Inferred relationship Some
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Associated morphology anomalie du développement false Inferred relationship Some 6
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Finding site Tooth structure false Inferred relationship Some 6
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Pathological process (attribute) Pathological developmental process false Inferred relationship Some 6
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Is a Congenital malformation true Inferred relationship Some
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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