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 |
| 3724259015 | Retinol dystrophy, iris coloboma, comedogenic acne syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724260013 | Progressive retinal dystrophy due to retinol transport defect (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724261012 | Progressive retinal dystrophy due to retinol transport defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 771631000241116 | dystrophie rétinienne progressive par déficit de transport du rétinol (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 912331000172111 | dystrophie rétinienne progressive par déficit de transport du rétinol | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 958031000172119 | syndrome de dystrophie rétinienne, colobome de l'iris, acné comédogène | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3724262017 | A rare genetic metabolite absorption and transport disorder characterised by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolaemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724263010 | A rare genetic metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive retinal dystrophy due to retinol transport defect (disorder) | est un(e) (attribut) | Hereditary retinal dystrophy | true | Inferred relationship | Some | ||
| Progressive retinal dystrophy due to retinol transport defect (disorder) | localisation d'une constatation (attribut) | structure de la rétine | true | Inferred relationship | Some | 1 | |
| Progressive retinal dystrophy due to retinol transport defect (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
| Progressive retinal dystrophy due to retinol transport defect (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive retinal dystrophy due to retinol transport defect (disorder) | est un(e) (attribut) | trouble métabolique du transport | true | Inferred relationship | Some | ||
| Progressive retinal dystrophy due to retinol transport defect (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Progressive retinal dystrophy due to retinol transport defect (disorder) | est un(e) (attribut) | Chronic metabolic disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR