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 |
| 3706239014 | Laminin subunit beta 2 related infantile-onset nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706240011 | LAMB2-related infantile-onset nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706241010 | LAMB2 (laminin subunit beta 2) related infantile-onset nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706242015 | Laminin subunit beta 2 related infantile-onset nephrotic syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706243013 | A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterised by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, oedema, hypertension, and hyperlipidaemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706244019 | A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 14019901000172110 | syndrome néphrotique débutant dans la petite enfance causé par la sous-unité bêta 2 de la laminine | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 14019911000172113 | syndrome néphrotique débutant chez le bébé de moins d'un an causé par la subunité bêta 2 de la laminine | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4631221000172114 | LAMB2-gerelateerd nefrotisch syndroom beginnend op zuigelingenleeftijd | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| LAMB2-related infantile-onset nephrotic syndrome | Is a | Steroid-resistant nephrotic syndrome | true | Inferred relationship | Some | ||
| LAMB2-related infantile-onset nephrotic syndrome | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| LAMB2-related infantile-onset nephrotic syndrome | Finding site | Glomerulus structure | true | Inferred relationship | Some | 1 | |
| LAMB2-related infantile-onset nephrotic syndrome | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| LAMB2-related infantile-onset nephrotic syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| LAMB2-related infantile-onset nephrotic syndrome | Interprets | Albumin measurement | true | Inferred relationship | Some | 3 | |
| LAMB2-related infantile-onset nephrotic syndrome | Interprets | Measurement of protein in urine (procedure) | true | Inferred relationship | Some | 2 | |
| LAMB2-related infantile-onset nephrotic syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| LAMB2-related infantile-onset nephrotic syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR