37183000: Cystinuria, type 1 (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Hereditary nephropathy (disorder)\Cystinuria, type 1

\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1

\maladie métabolique du rein\Cystinuria\Cystinuria, type 1

\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1

\constatation générale à propos des tissus mous\Poor muscle tone (finding)\Cystinuria, type 1
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Cystinuria, type 1

\constatation à propos d'un muscle\constatation à propos du tonus musculaire\Poor muscle tone (finding)\Cystinuria, type 1
\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Cystinuria, type 1

\Musculoskeletal finding\Poor muscle tone (finding)\Cystinuria, type 1
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Cystinuria, type 1
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Cystinuria, type 1

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cystinuria, type 1
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinuria, type 1
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Cystinuria, type 1
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Cystinuria, type 1
\Disease\affection musculaire\affection d'un muscle squelettique\Cystinuria, type 1
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\maladie métabolique du rein\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\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)\Cystinuria, type 1
\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\Cystinuria\Cystinuria, type 1
\Disease\trouble métabolique\trouble métabolique du transport\Amino acid transport disorder\Cystinuria\Cystinuria, type 1
\Disease\trouble métabolique\maladie métabolique du rein\Cystinuria\Cystinuria, type 1
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Cystinuria, type 1

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

62033012 Cystinuria, type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

62034018 Recessive cystinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

769020013 Cystinuria, type 1 (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
Cystinuria, type 1	est un(e) (attribut)	affection d'un muscle squelettique	true	Inferred relationship	Some
Cystinuria, type 1	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1
Cystinuria, type 1	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cystinuria, type 1	est un(e) (attribut)	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Cystinuria, type 1	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Cystinuria, type 1	interprète (attribut)	Muscle tone	true	Inferred relationship	Some	3
Cystinuria, type 1	est un(e) (attribut)	Poor muscle tone (finding)	true	Inferred relationship	Some
Cystinuria, type 1	est un(e) (attribut)	Cystinuria	true	Inferred relationship	Some
Cystinuria, type 1	localisation d'une constatation (attribut)	structure d'un rein	true	Inferred relationship	Some	2
Cystinuria, type 1	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypotonia cystinuria syndrome (disorder)	est un(e) (attribut)	True	Cystinuria, type 1	Inferred relationship	Some
Atypical hypotonia cystinuria syndrome (disorder)	est un(e) (attribut)	True	Cystinuria, type 1	Inferred relationship	Some

This concept is not in any reference sets