Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3755546019 | Karyomegalic interstitial nephritis (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3755547011 | KIN - karyomegalic interstitial nephritis | en | Synonym | Active | Case sensitive | SNOMED CT core |
3755548018 | Karyomegalic interstitial nephritis | en | Synonym | Active | Case insensitive | SNOMED CT core |
3755549014 | Systemic karyomegaly | en | Synonym | Active | Case insensitive | SNOMED CT core |
3755443013 | A rare genetic renal disease with characteristics of slowly progressive chronic tubulointerstitial nephritis leading to end-stage renal disease before the age of 50 years. The disease manifests mild proteinuria, glucosuria and occasionally urinary sediment abnormalities. Mild extrarenal manifestations such as recurrent upper respiratory tract infections and abnormal liver function tests may be associated. Renal biopsy reveals severe chronic interstitial fibrosis and tubular changes as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged hyperchromatic nuclei. Caused by homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set