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 |
| 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 Common French translation module (core metadata concept) |
| 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 Common French translation module (core metadata concept) |
| 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 |
| 785201000241119 | syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | localisation d'une constatation (attribut) | structure de la rétine | true | Inferred relationship | Some | 4 | |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | morphologie associée (attribut) | Hyaline body | true | Inferred relationship | Some | 1 | |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | Disorder of macula of retina (disorder) | true | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | Microphthalmos | true | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | localisation d'une constatation (attribut) | Entire eye | true | Inferred relationship | Some | 2 | |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 2 | |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | morphologie associée (attribut) | Separation | true | Inferred relationship | Some | 3 | |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | localisation d'une constatation (attribut) | Structure of fovea centralis | true | Inferred relationship | Some | 3 | |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | décollement de la rétine (trouble) | false | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | drusen du disque optique | true | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | Autosomal recessive retinitis pigmentosa | true | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | localisation d'une constatation (attribut) | structure du disque du nerf optique | true | Inferred relationship | Some | 1 | |
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | Inherited optic neuropathy | true | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | affection du disque du nerf optique | true | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | Congenital retinoschisis | false | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique | est un(e) (attribut) | rétinoschisis (trouble) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR