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 |
| 1002371000172117 | dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3728155011 | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3728156012 | Retinal dystrophy with inner nuclear layer and ganglion cell anomalies | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3728157015 | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 772311000241112 | dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3728158013 | A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3728159017 | A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fibre layer with loss of optic nerve fibres manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires | est un(e) (attribut) | Hereditary retinal dystrophy | true | Inferred relationship | Some | ||
| dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires | localisation d'une constatation (attribut) | structure de la rétine | true | Inferred relationship | Some | 1 | |
| dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR