Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5063561014 | Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5063562019 | Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5063564018 | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5063565017 | Interstitial lung and liver disease | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5063566016 | Hereditary pulmonary alveolar proteinosis with hepatic involvement | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5063567013 | Pulmonary alveolar proteinosis Reunion island type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5063570012 | A rare genetic interstitial lung disease with characteristics of accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive and digital clubbing. Liver disease has been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 5063571011 | A rare genetic interstitial lung disease with characteristics of accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnoea, tachypnoea, cough, failure to thrive and digital clubbing. Liver disease has been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Is a | Pulmonary alveolar proteinosis | true | Inferred relationship | Some | ||
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Is a | Interstitial lung disease | true | Inferred relationship | Some | ||
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Is a | Inherited disorder of connective tissue | true | Inferred relationship | Some | ||
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Is a | Hereditary disorder by system | true | Inferred relationship | Some | ||
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Is a | Chronic lung disease | true | Inferred relationship | Some | ||
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Finding site | Structure of interstitial tissue of lung | true | Inferred relationship | Some | 3 | |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Finding site | Pulmonary alveolar structure | true | Inferred relationship | Some | 1 | |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Associated morphology | Protein deposition | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Respiratory finding reference set
Problem/Diagnosis reference set
FHIR