721173005: Hypotonia cystinuria 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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)

\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)

\maladie métabolique du rein\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\maladie métabolique du rein\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\maladie métabolique du rein\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\maladie métabolique du rein\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\maladie métabolique du rein\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\maladie métabolique du rein\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\maladie métabolique du rein\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\maladie métabolique du rein\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\maladie métabolique du rein\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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\maladie métabolique du rein\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome (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)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)

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

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

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

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

3324522011 Hypotonia cystinuria syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3324523018 Hypotonia cystinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypotonia cystinuria syndrome (disorder)	interprète (attribut)	Muscle tone	true	Inferred relationship	Some	3
Hypotonia cystinuria syndrome (disorder)	est un(e) (attribut)	Cystinuria, type 1	true	Inferred relationship	Some
Hypotonia cystinuria syndrome (disorder)	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1
Hypotonia cystinuria syndrome (disorder)	localisation d'une constatation (attribut)	structure d'un rein	true	Inferred relationship	Some	2
Hypotonia cystinuria syndrome (disorder)	est un(e) (attribut)	Amino acid transport disorder	false	Inferred relationship	Some
Hypotonia cystinuria syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets