62332007: Infantile nephropathic cystinosis (disorder)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis

\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disorder of renal parenchyma (disorder)\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis

\maladie métabolique du rein\Infantile nephropathic cystinosis

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection des tissus mous du tronc\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis
\Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Infantile nephropathic cystinosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Cystinosis\Infantile nephropathic cystinosis
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinosis\Infantile nephropathic cystinosis
\Disease\affection d'un système corporel\Inflammation of specific body systems\Inflammatory disorder of genitourinary system (disorder)\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Inflammatory disorder of genitourinary system (disorder)\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Infantile nephropathic cystinosis
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of genitourinary system (disorder)\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\inflammation d'un organe corporel spécifique\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Infantile nephropathic cystinosis
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Inflammatory disorder of genitourinary system (disorder)\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\maladie métabolique du rein\Infantile nephropathic cystinosis
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tronc\affection des tissus mous du tronc\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tissu conjonctif\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis
\Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Infantile nephropathic cystinosis
\Disease\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder\Cystinosis\Infantile nephropathic cystinosis
\Disease\trouble métabolique\trouble métabolique du transport\Amino acid transport disorder\Cystinosis\Infantile nephropathic cystinosis
\Disease\trouble métabolique\maladie métabolique du rein\Infantile nephropathic cystinosis
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Cystinosis\Infantile nephropathic cystinosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Cystinosis\Infantile nephropathic cystinosis
\Disease\Disorder of soft tissue\affection des tissus mous du tronc\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis

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
Infantile nephropathic cystinosis	localisation d'une constatation (attribut)	Renal tubule structure	true	Inferred relationship	Some	2
Infantile nephropathic cystinosis	morphologie associée (attribut)	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Infantile nephropathic cystinosis	morphologie associée (attribut)	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Infantile nephropathic cystinosis	est un(e) (attribut)	Tubulointerstitial nephritis (disorder)	true	Inferred relationship	Some
Infantile nephropathic cystinosis	est un(e) (attribut)	maladie métabolique du rein	true	Inferred relationship	Some
Infantile nephropathic cystinosis	est un(e) (attribut)	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Infantile nephropathic cystinosis	est un(e) (attribut)	Connective tissue hereditary disorder	true	Inferred relationship	Some
Infantile nephropathic cystinosis	est un(e) (attribut)	néphrite interstitielle	false	Inferred relationship	Some
Infantile nephropathic cystinosis	est un(e) (attribut)	Cystinosis	true	Inferred relationship	Some
Infantile nephropathic cystinosis	est un(e) (attribut)	Cystinosis (disorder)	false	Inferred relationship	Some
Infantile nephropathic cystinosis	est un(e) (attribut)	affection congénitale du tissu conjonctif	false	Inferred relationship	Some
Infantile nephropathic cystinosis	morphologie associée (attribut)	inflammation	false	Inferred relationship	Some	1
Infantile nephropathic cystinosis	localisation d'une constatation (attribut)	Structure of interstitial tissue of kidney	true	Inferred relationship	Some	1
Infantile nephropathic cystinosis	est un(e) (attribut)	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Infantile nephropathic cystinosis	localisation d'une constatation (attribut)	Structure of parenchyma of kidney	false	Inferred relationship	Some	2
Infantile nephropathic cystinosis	morphologie associée (attribut)	inflammation	false	Inferred relationship	Some	2
Infantile nephropathic cystinosis	localisation d'une constatation (attribut)	Structure of interstitial tissue of kidney	false	Inferred relationship	Some	1
Infantile nephropathic cystinosis	survenue (attribut)	congénital	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital Fanconi syndrome	est un(e) (attribut)	True	Infantile nephropathic cystinosis	Inferred relationship	Some
Acquired Fanconi syndrome	est un(e) (attribut)	False	Infantile nephropathic cystinosis	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
103605014	Infantile nephropathic cystinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103606010	Nephropathic cystinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
450071000241110	cystinose néphropathique infantile (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
499251010	Lignac-Fanconi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
801493019	Infantile nephropathic cystinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
938821000172113	cystinose néphropathique infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)