Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 347717017 | Goldmann-Favre syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5072496019 | Enhanced S-cone syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5072497011 | Retinoschisis with early nyctalopia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 547311000241114 | syndrome de Goldmann-Favre (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 620082013 | Goldmann-Favre syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 906021000172111 | syndrome de Goldmann-Favre | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 913521000172114 | syndrome d'augmentation des cônes bleus | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 5072498018 | A vitreoretinal dystrophy with characteristics of early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). The onset is usually in childhood. Mutations in the NR2E3 gene (formerly called PNR) have been identified in some patients. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors. Inherited as an autosomal recessive trait and has a progressive course. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5072499014 | A vitreoretinal dystrophy with characteristics of early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular oedema, retinoschisis). The onset is usually in childhood. Mutations in the NR2E3 gene (formerly called PNR) have been identified in some patients. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors. Inherited as an autosomal recessive trait and has a progressive course. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR