236466005: Congenital Fanconi syndrome (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\Congenital Fanconi syndrome

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

\maladie métabolique du rein\Infantile nephropathic cystinosis\Congenital Fanconi syndrome

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

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Cystinosis\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinosis\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\affection d'un système corporel\Inflammation of specific body systems\Inflammatory disorder of genitourinary system (disorder)\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\inflammation d'un organe corporel spécifique\néphrite\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\Disease\affection du tronc\affection des tissus mous du tronc\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\affection du tissu conjonctif\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Congenital Fanconi syndrome
\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\Congenital Fanconi syndrome
\Disease\trouble métabolique\trouble métabolique du transport\Amino acid transport disorder\Cystinosis\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\trouble métabolique\maladie métabolique du rein\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Cystinosis\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\Congenital disease\affection congénitale du tissu conjonctif\Congenital Fanconi syndrome
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Cystinosis\Infantile nephropathic cystinosis\Congenital Fanconi syndrome
\Disease\Disorder of soft tissue\affection des tissus mous du tronc\Tubulointerstitial nephritis (disorder)\Infantile nephropathic cystinosis\Congenital Fanconi syndrome

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

354463014 De Toni-Fanconi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

354464015 Primary Fanconi syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

354465019 Congenital Fanconi syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

625063019 Congenital Fanconi syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital Fanconi syndrome	morphologie associée (attribut)	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Congenital Fanconi syndrome	localisation d'une constatation (attribut)	Renal tubule structure	true	Inferred relationship	Some	2
Congenital Fanconi syndrome	morphologie associée (attribut)	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital Fanconi syndrome	est un(e) (attribut)	affection congénitale du tissu conjonctif	true	Inferred relationship	Some
Congenital Fanconi syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital Fanconi syndrome	morphologie associée (attribut)	inflammation	false	Inferred relationship	Some	1
Congenital Fanconi syndrome	localisation d'une constatation (attribut)	Structure of interstitial tissue of kidney	true	Inferred relationship	Some	1
Congenital Fanconi syndrome	est un(e) (attribut)	Infantile nephropathic cystinosis	true	Inferred relationship	Some
Congenital Fanconi syndrome	localisation d'une constatation (attribut)	Structure of interstitial tissue of kidney	false	Inferred relationship	Some	1
Congenital Fanconi syndrome	morphologie associée (attribut)	inflammation	false	Inferred relationship	Some	2
Congenital Fanconi syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Congenital Fanconi syndrome	localisation d'une constatation (attribut)	Structure of parenchyma of kidney	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

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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
354463014	De Toni-Fanconi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
354464015	Primary Fanconi syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
354465019	Congenital Fanconi syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
625063019	Congenital Fanconi syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core