Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3315827019 | Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3315828012 | Primary ciliary dyskinesia and retinitis pigmentosa syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 753971000241112 | syndrome de dyskinésie ciliaire primitive-rétinite pigmentaire (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 930151000172113 | syndrome de dyskinésie ciliaire primitive-rétinite pigmentaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3315829016 | An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315830014 | An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhoea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 2 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | est un(e) (attribut) | Inherited mucociliary clearance defect | true | Inferred relationship | Some | ||
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | est un(e) (attribut) | trouble du développement | false | Inferred relationship | Some | ||
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | est un(e) (attribut) | X-linked retinitis pigmentosa | true | Inferred relationship | Some | ||
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | est un(e) (attribut) | rétinite pigmentaire (trouble) | false | Inferred relationship | Some | ||
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | est un(e) (attribut) | Immotile cilia syndrome | false | Inferred relationship | Some | ||
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rétine | true | Inferred relationship | Some | 3 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rétine | false | Inferred relationship | Some | 2 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | morphologie associée (attribut) | Defect | true | Inferred relationship | Some | 1 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | localisation d'une constatation (attribut) | structure des voies respiratoires | true | Inferred relationship | Some | 1 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | a pour interprétation (attribut) | altéré | true | Inferred relationship | Some | 4 | |
| Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | interprète (attribut) | Mucociliary clearance | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR