Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757985019 | Chronic respiratory distress with surfactant metabolism deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757986018 | Chronic respiratory distress with surfactant metabolism deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757987010 | A rare genetic primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse. There is evidence that the disease is caused by heterozygous mutation in the gene encoding surfactant protein C (SFTPC) on chromosome 8p21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757988017 | A rare genetic primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnoea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse. There is evidence that the disease is caused by heterozygous mutation in the gene encoding surfactant protein C (SFTPC) on chromosome 8p21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Is a | Genetic disorder of surfactant dysfunction | true | Inferred relationship | Some | ||
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Is a | Chronic disease of respiratory system | false | Inferred relationship | Some | ||
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Is a | Respiratory distress | true | Inferred relationship | Some | ||
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Is a | Hereditary disorder by system | true | Inferred relationship | Some | ||
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Due to | Genetic mutation | true | Inferred relationship | Some | 4 | |
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Finding site | Structure of interstitial tissue of lung | true | Inferred relationship | Some | 2 | |
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Interprets | General clinical state | false | Inferred relationship | Some | 5 | |
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Clinical course | Chronic | true | Inferred relationship | Some | 1 | |
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Interprets | Ease of respiration | true | Inferred relationship | Some | 3 | |
| Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Is a | Chronic lung disease (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR