204958008: Nephronophthisis (disorder)

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

\Abdominal mass\Cyst of abdomen\Cyst of retroperitoneal compartment\Cyst of kidney\Medullary cystic disease\Nephronophthisis - medullary cystic disease\Nephronophthisis
\Abdominal mass\Mass of retroperitoneal structure\Renal mass\Cyst of kidney\Medullary cystic disease\Nephronophthisis - medullary cystic disease\Nephronophthisis
\Abdominal mass\Mass of retroperitoneal structure\Cyst of retroperitoneal compartment\Cyst of kidney\Medullary cystic disease\Nephronophthisis - medullary cystic disease\Nephronophthisis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

314290015 Nephronophthisis en Synonym Active Entire term case insensitive SNOMED CT core module

314292011 Familial juvenile medullary cystic kidney disease en Synonym Active Entire term case insensitive SNOMED CT core module

314293018 Autosomal recessive medullary cystic disease en Synonym Active Entire term case insensitive SNOMED CT core module

590257010 Nephronophthisis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5045299010 Familial juvenile nephronophthisis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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

This concept is not in any reference sets

Back to Start

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