65520001: Primary hyperoxaluria, type I (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Hereditary nephropathy (disorder)\Primary hyperoxaluria\Primary hyperoxaluria, type I

\maladie métabolique du rein\Primary hyperoxaluria\Primary hyperoxaluria, type I

\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Primary hyperoxaluria, type I
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Primary hyperoxaluria\Primary hyperoxaluria, type I
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Primary hyperoxaluria\Primary hyperoxaluria, type I
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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\Primary hyperoxaluria\Primary hyperoxaluria, type I
\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)\Primary hyperoxaluria\Primary hyperoxaluria, type I
\Disease\trouble métabolique\maladie métabolique du rein\Primary hyperoxaluria\Primary hyperoxaluria, type I
\Disease\trouble métabolique\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Primary hyperoxaluria, type I
\Disease\trouble métabolique\Inborn error of metabolism\Primary hyperoxaluria\Primary hyperoxaluria, type I
\Disease\trouble métabolique\Enzymopathy\Primary hyperoxaluria\Primary hyperoxaluria, type I
\Disease\trouble métabolique\Disorder of carbohydrate metabolism\Primary hyperoxaluria\Primary hyperoxaluria, type I
\Disease\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Primary hyperoxaluria, type I
\Disease\Congenital disease\Inborn error of metabolism\Primary hyperoxaluria\Primary hyperoxaluria, type I

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

108861015 Primary hyperoxaluria, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

108862010 Glycolic aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

108863017 Alanine-glyoxylate aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1232687016 2-Oxoglutarate glyoxylate carboligase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1232688014 Oxalosis type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1232689018 Primary hyperoxaluria type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1232690010 Alanine-glycoxylate aminotransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

453711000241114 hyperoxalurie primitive type 1 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

805032013 Primary hyperoxaluria, type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

920941000172111 acidurie glycolique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

985861000172118 hyperoxalurie primitive type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary hyperoxaluria, type I	est un(e) (attribut)	Primary hyperoxaluria	true	Inferred relationship	Some
Primary hyperoxaluria, type I	est un(e) (attribut)	Loss of single peroxisomal function	true	Inferred relationship	Some
Primary hyperoxaluria, type I	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Primary hyperoxaluria, type I	localisation d'une constatation (attribut)	structure d'un rein	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oxaluria NEC	est un(e) (attribut)	False	Primary hyperoxaluria, type I	Inferred relationship	Some

This concept is not in any reference sets