204958008: Nephronophthisis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\...

\Renal mass\Cyst of kidney (disorder)\Medullary cystic disease of the kidney\Nephronophthisis - medullary cystic disease\Nephronophthisis

\Kidney disease\Hereditary nephropathy (disorder)\Nephronophthisis
\Kidney disease\Kidney lesion\Cyst of kidney (disorder)\Medullary cystic disease of the kidney\Nephronophthisis - medullary cystic disease\Nephronophthisis
\Kidney disease\Kidney lesion\Renal fibrosis\Medullary cystic disease of the kidney\Nephronophthisis - medullary cystic disease\Nephronophthisis
\Kidney disease\Disorder of renal parenchyma (disorder)\Medullary cystic disease of the kidney\Nephronophthisis - medullary cystic disease\Nephronophthisis

\Mass of body structure\Mass of body region\Mass of trunk\...

\Mass of urogenital structure\Mass of urinary tract structure (finding)\Renal mass\Cyst of kidney (disorder)\Medullary cystic disease of the kidney\Nephronophthisis - medullary cystic disease\Nephronophthisis

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nephronophthisis	Is a	Medullary cystic disease of the kidney	false	Inferred relationship	Some
Nephronophthisis	Associated morphology	Fibrocysticystic change (morphologic abnormality)	false	Inferred relationship	Some	1
Nephronophthisis	Finding site	Kidney structure	false	Inferred relationship	Some	2
Nephronophthisis	Finding site	Urinary tract includes entire kidney and the urinary tract proper which relate to the ureter, bladder and urethra.	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	kongenit anomali	false	Inferred relationship	Some	2
Nephronophthisis	Finding site	Kidney structure	false	Inferred relationship	Some	2
Nephronophthisis	Associated morphology	Fibrocystic change	false	Inferred relationship	Some	1
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	Is a	Kidney lesion	false	Inferred relationship	Some
Nephronophthisis	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Nephronophthisis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile nephronophthisis (disorder)	Is a	True	Nephronophthisis	Inferred relationship	Some
Adolescent nephronophthisis (disorder)	Is a	True	Nephronophthisis	Inferred relationship	Some
Juvenile nephronophthisis (disorder)	Is a	True	Nephronophthisis	Inferred relationship	Some
Nephronophthisis type 6 (disorder)	Is a	True	Nephronophthisis	Inferred relationship	Some
Nephronophthisis type 4 (disorder)	Is a	True	Nephronophthisis	Inferred relationship	Some
Nephronophthisis type 5 (disorder)	Is a	True	Nephronophthisis	Inferred relationship	Some
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.	Is a	True	Nephronophthisis	Inferred relationship	Some
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease.	Is a	True	Nephronophthisis	Inferred relationship	Some
Renal dysplasia and retinal aplasia	Is a	True	Nephronophthisis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
314290015	Nephronophthisis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
314292011	Familial juvenile medullary cystic kidney disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
314293018	Autosomal recessive medullary cystic disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590257010	Nephronophthisis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045299010	Familial juvenile nephronophthisis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4339271000005116	nefronoftise	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)