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 |
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 |
3500001019 | A life-threatening multi organ 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 toe nail dystrophy and sparse hair. There is evidence this disease is caused by homozygous mutation in the ITGA3 gene on chromosome 17q21. | en | Definition | Active | Entire term case sensitive (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 |
3436591001000117 | Interstitielle Lungenkrankheit-Nephrotisches Syndrom-Epidermolysis bullosa-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5491381000241111 | syndrome néphrotique congénital, épidermolyse bulleuse, atteinte pulmonaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5491381000241111 | syndrome néphrotique congénital, épidermolyse bulleuse, atteinte pulmonaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3436591001000117 | Interstitielle Lungenkrankheit-Nephrotisches Syndrom-Epidermolysis bullosa-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)