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782738008: Karyomegalic interstitial nephritis (disorder)


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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Karyomegalic interstitial nephritis Is a Inherited disorder of connective tissue true Inferred relationship Some
Karyomegalic interstitial nephritis Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Karyomegalic interstitial nephritis Is a Renal interstitial fibrosis true Inferred relationship Some
Karyomegalic interstitial nephritis Is a Hereditary nephropathy true Inferred relationship Some
Karyomegalic interstitial nephritis Finding site Structure of interstitial tissue of kidney true Inferred relationship Some 3
Karyomegalic interstitial nephritis Associated morphology Chronic inflammation true Inferred relationship Some 2
Karyomegalic interstitial nephritis Is a Chronic interstitial nephritis true Inferred relationship Some
Karyomegalic interstitial nephritis Finding site Structure of interstitial tissue of kidney true Inferred relationship Some 1
Karyomegalic interstitial nephritis Finding site Structure of parenchyma of kidney false Inferred relationship Some 2
Karyomegalic interstitial nephritis Associated morphology Fibrosis true Inferred relationship Some 1
Karyomegalic interstitial nephritis Clinical course Chronic true Inferred relationship Some 4
Karyomegalic interstitial nephritis Associated morphology Chronic inflammation true Inferred relationship Some 3
Karyomegalic interstitial nephritis Finding site Renal tubule structure true Inferred relationship Some 2
Karyomegalic interstitial nephritis Is a Inflammatory hereditary disorder false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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