Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3499459017 | Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3499460010 | Congenital ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3499461014 | Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3499462019 | Congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5403786011 | A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toenail dystrophy and sparse hair. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Is a | Congenital nephrotic syndrome | false | Inferred relationship | Some | ||
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Is a | Interstitial lung disease | true | Inferred relationship | Some | ||
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Is a | Multisystem disorder | false | Inferred relationship | Some | ||
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Is a | Congenital connective tissue disorder | true | Inferred relationship | Some | ||
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Finding site | Structure of interstitial tissue of lung | true | Inferred relationship | Some | 2 | |
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Finding site | Glomerulus structure | true | Inferred relationship | Some | 3 | |
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Is a | Nephrotic syndrome | true | Inferred relationship | Some | ||
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 1 | |
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Interprets | Albumin measurement | true | Inferred relationship | Some | 4 | |
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Interprets | Measurement of protein in urine (procedure) | true | Inferred relationship | Some | 1 | |
| Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Is a | Respiratory condition of fetus OR newborn | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR