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 |
3737210015 | Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3737212011 | Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3747112019 | Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3737218010 | A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3737219019 | A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3737210015 | Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3737212011 | Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3747112019 | Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3737218010 | A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3737219019 | A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
545641000274112 | Nanophtalmus-Retinitis pigmentosa-Foveoschisis-Drusenpapille-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3450451001000110 | Mikrophthalmie-Retinitis pigmentosa-Foveoschisis-Drusenpapille-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1005451000172111 | syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1012331000172117 | syndrome de nanophtalmie, rétinite pigmentaire, fovéoschisis, drusen de la papille optique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1005451000172111 | syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1012331000172117 | syndrome de nanophtalmie, rétinite pigmentaire, fovéoschisis, drusen de la papille optique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
545641000274112 | Nanophtalmus-Retinitis pigmentosa-Foveoschisis-Drusenpapille-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3450451001000110 | Mikrophthalmie-Retinitis pigmentosa-Foveoschisis-Drusenpapille-Syndrom | 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 |
This concept is not in any reference sets