717767009: syndrome d'Alport autosomique récessif (trouble)

SNOMED CT Concept\constatation clinique\...

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

\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)

\Disorder of renal parenchyma (disorder)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disorder of renal parenchyma (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Inflammatory disorder of genitourinary system (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\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)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\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)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\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\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\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)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Inflammatory disorder of genitourinary system (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\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)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\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\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Inflammatory disorder of genitourinary system (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\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)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\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)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\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\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos d'une structure du tronc\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)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)

\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alport syndrome autosomal recessive (disorder)
\Disease\affection d'un système corporel\Inflammation of specific body systems\Inflammatory disorder of genitourinary system (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Inflammatory disorder of genitourinary system (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\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)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\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)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\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\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\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)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of genitourinary system (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\inflammation d'un organe corporel spécifique\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\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\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Inflammatory disorder of genitourinary system (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\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)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\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)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\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\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)
\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)\Hereditary nephritis (disorder)\syndrome d'Alport\Alport syndrome autosomal recessive (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3310202018 Alport syndrome autosomal recessive (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3312046012 Alport syndrome autosomal recessive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

751491000241115 syndrome d'Alport autosomique récessif (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

941271000172119 syndrome d'Alport autosomique récessif fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alport syndrome autosomal recessive (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Alport syndrome autosomal recessive (disorder)	est un(e) (attribut)	Hereditary nephritis (disorder)	false	Inferred relationship	Some
Alport syndrome autosomal recessive (disorder)	morphologie associée (attribut)	Chronic inflammation	true	Inferred relationship	Some	1
Alport syndrome autosomal recessive (disorder)	localisation d'une constatation (attribut)	Glomerulus structure	true	Inferred relationship	Some	1
Alport syndrome autosomal recessive (disorder)	localisation d'une constatation (attribut)	structure du système auditif	true	Inferred relationship	Some	3
Alport syndrome autosomal recessive (disorder)	est un(e) (attribut)	syndrome d'Alport	true	Inferred relationship	Some
Alport syndrome autosomal recessive (disorder)	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada French language reference set (foundation metadata concept)