75652008: Familial renal iminoglycinuria (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Hereditary nephropathy (disorder)\iminoglycinurie rénale familiale

\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale

\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale

\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)\iminoglycinurie rénale familiale
\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\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\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\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\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\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\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\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\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\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\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\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\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\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\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\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\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\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\iminoglycinurie rénale familiale
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\iminoglycinurie rénale familiale
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\iminoglycinurie rénale familiale
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\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\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\iminoglycinurie rénale familiale
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\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\Specific renal tubule transport defect\Iminoglycinuria\iminoglycinurie rénale familiale
\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\Iminoglycinuria\iminoglycinurie rénale familiale
\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)\iminoglycinurie rénale familiale
\Disease\Familial disease\iminoglycinurie rénale familiale
\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\Iminoglycinuria\iminoglycinurie rénale familiale
\Disease\trouble métabolique\trouble métabolique du transport\Amino acid transport disorder\Iminoglycinuria\iminoglycinurie rénale familiale
\Disease\trouble métabolique\maladie métabolique du rein\Iminoglycinuria\iminoglycinurie rénale familiale
\Disease\trouble métabolique\Inborn error of metabolism\iminoglycinurie rénale familiale
\Disease\Congenital disease\Inborn error of metabolism\iminoglycinurie rénale familiale

Status: current, 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

125171000077119 iminoglycinurie rénale familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

125653016 Familial renal iminoglycinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

397611000077112 iminoglycinurie rénale familiale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

816286010 Familial renal iminoglycinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
iminoglycinurie rénale familiale	est un(e) (attribut)	Hereditary disorder of the urinary system	false	Inferred relationship	Some
iminoglycinurie rénale familiale	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
iminoglycinurie rénale familiale	est un(e) (attribut)	Familial disease	true	Inferred relationship	Some
iminoglycinurie rénale familiale	est un(e) (attribut)	Iminoglycinuria	true	Inferred relationship	Some
iminoglycinurie rénale familiale	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
iminoglycinurie rénale familiale	est un(e) (attribut)	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
iminoglycinurie rénale familiale	localisation d'une constatation (attribut)	structure d'un rein	true	Inferred relationship	Some	2
iminoglycinurie rénale familiale	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set