782738008: Karyomegalic interstitial nephritis (disorder)

\Soft tissue lesion\Renal interstitial fibrosis\Karyomegalic interstitial nephritis (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3755546019 Karyomegalic interstitial nephritis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755547011 KIN - karyomegalic interstitial nephritis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3755548018 Karyomegalic interstitial nephritis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755549014 Systemic karyomegaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

4356151000052119 makronukleär interstitiell nefrit sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3755546019	Karyomegalic interstitial nephritis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755547011	KIN - karyomegalic interstitial nephritis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755548018	Karyomegalic interstitial nephritis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755549014	Systemic karyomegaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4356151000052119	makronukleär interstitiell nefrit	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)