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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

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 system structure (body 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 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 (disorder) 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
Nephronophthisis hepatic fibrosis syndrome (disorder) Is a True Nephronophthisis Inferred relationship Some
Joubert syndrome with oculorenal defect (disorder) 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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