204958008: Nephronophthisis (disorder)

\Mass of urogenital structure\Mass of urinary tract structure\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis

\Abdominal mass\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis
\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis
\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

314290015 Nephronophthisis en Synonym Active Case insensitive SNOMED CT core
314291016 Familial juvenile nephrophthisis en Synonym Inactive Case insensitive SNOMED CT core
314292011 Familial juvenile medullary cystic kidney disease en Synonym Active Case insensitive SNOMED CT core
314293018 Autosomal recessive medullary cystic disease en Synonym Active Case insensitive SNOMED CT core
5045299010 Familial juvenile nephronophthisis en Synonym Active Case insensitive SNOMED CT core
590257010 Nephronophthisis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nephronophthisis	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Nephronophthisis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Nephronophthisis	Finding site	Kidney structure	false	Inferred relationship	Some	2
Nephronophthisis	Associated morphology	Fibrocystic change	false	Inferred relationship	Some	1
Nephronophthisis	Is a	Medullary cystic kidney disease	false	Inferred relationship	Some
Nephronophthisis	Associated morphology	Polycystic change	false	Inferred relationship	Some	3
Nephronophthisis	Finding site	Kidney structure	false	Inferred relationship	Some	3
Nephronophthisis	Is a	Nephronophthisis - medullary cystic disease	true	Inferred relationship	Some
Nephronophthisis	Finding site	Structure of medulla of kidney	true	Inferred relationship	Some	1
Nephronophthisis	Associated morphology	Fibrocystic change	true	Inferred relationship	Some	1
Nephronophthisis	Associated morphology	Fibrocystic change	false	Inferred relationship	Some	1
Nephronophthisis	Finding site	Kidney structure	false	Inferred relationship	Some	2
Nephronophthisis	Finding site	Urinary system structure	false	Inferred relationship	Some	9
Nephronophthisis	Finding site	Structure of medulla of kidney	false	Inferred relationship	Some	1
Nephronophthisis	Course	Multiple superficial injuries of lower leg	false	Inferred relationship	Some
Nephronophthisis	Occurrence	Congenital	false	Inferred relationship	Some
Nephronophthisis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Nephronophthisis	Is a	Kidney lesion	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Renal dysplasia and retinal aplasia	Is a	True	Nephronophthisis	Inferred relationship	Some
Infantile nephronophthisis	Is a	True	Nephronophthisis	Inferred relationship	Some
Adolescent nephronophthisis	Is a	True	Nephronophthisis	Inferred relationship	Some
Juvenile nephronophthisis	Is a	True	Nephronophthisis	Inferred relationship	Some
Nephronophthisis type 6	Is a	True	Nephronophthisis	Inferred relationship	Some
Nephronophthisis type 4	Is a	True	Nephronophthisis	Inferred relationship	Some
Nephronophthisis type 5	Is a	True	Nephronophthisis	Inferred relationship	Some
Boichis syndrome	Is a	True	Nephronophthisis	Inferred relationship	Some
Joubert syndrome with oculorenal defect	Is a	True	Nephronophthisis	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
314290015	Nephronophthisis	en	Synonym	Active	Case insensitive	SNOMED CT core
314291016	Familial juvenile nephrophthisis	en	Synonym	Inactive	Case insensitive	SNOMED CT core
314292011	Familial juvenile medullary cystic kidney disease	en	Synonym	Active	Case insensitive	SNOMED CT core
314293018	Autosomal recessive medullary cystic disease	en	Synonym	Active	Case insensitive	SNOMED CT core
5045299010	Familial juvenile nephronophthisis	en	Synonym	Active	Case insensitive	SNOMED CT core
590257010	Nephronophthisis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core