Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3528385011 | Coloboma of macula | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3528386012 | Congenital coloboma of macula lutea | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3528387015 | Congenital coloboma of macula lutea (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5403900012 | Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403901011 | Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterised by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3528385011 | Coloboma of macula | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3528386012 | Congenital coloboma of macula lutea | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3528387015 | Congenital coloboma of macula lutea (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3531690015 | A rare non-syndromic developmental defect of the eye. The disease has characteristics of well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403900012 | Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403901011 | Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterised by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
540821000274113 | Kongenitales Kolobom der Makula | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
571421000274119 | Kongenitales Makulakolobom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3390981001000112 | Makulakolobom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5936851000241111 | colobome congénital de la macula | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5936861000241114 | colobome maculaire congénital | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5936871000241118 | colobome congénital de la macula lutea | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5936851000241111 | colobome congénital de la macula | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5936861000241114 | colobome maculaire congénital | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5936871000241118 | colobome congénital de la macula lutea | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
540821000274113 | Kongenitales Kolobom der Makula | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
571421000274119 | Kongenitales Makulakolobom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3390981001000112 | Makulakolobom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Is a | True | Congenital coloboma of macula lutea (disorder) | Inferred relationship | Existential restriction modifier (core metadata concept) | |
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. | Is a | True | Congenital coloboma of macula lutea (disorder) | Inferred relationship | Existential restriction modifier (core metadata concept) | |
Coloboma of bilateral maculae (disorder) | Is a | True | Congenital coloboma of macula lutea (disorder) | Inferred relationship | Existential restriction modifier (core metadata concept) |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)