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204958008: Nephronophthisis (disorder)

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

Descriptions:

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
892521000172112 néphronophtise fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451961001000113 Nephronophthise de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

9 descendants. Search Descendants:

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 anomalie congénitale 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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