21764004: Renal carnitine transport defect (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...
• \Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Renal carnitine transport defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Renal carnitine transport defect
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Renal carnitine transport defect
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Renal carnitine transport defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Renal carnitine transport defect
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Renal carnitine transport defect
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Renal carnitine transport defect
• \Disease\Metabolic disease\Metabolic renal disease\Renal carnitine transport defect
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Renal carnitine transport defect

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
36525013	Renal carnitine transport defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
36526014	Systemic carnitine deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481112012	Carnitine transporter deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481113019	Carnitine uptake defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481114013	Primary carnitine deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
751095013	Renal carnitine transport defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
36525013	Renal carnitine transport defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
36525013	Renal carnitine transport defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
36526014	Systemic carnitine deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
36526014	Systemic carnitine deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481112012	Carnitine transporter deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
481112012	Carnitine transporter deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481113019	Carnitine uptake defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
481113019	Carnitine uptake defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481114013	Primary carnitine deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
481114013	Primary carnitine deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
751095013	Renal carnitine transport defect (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
751095013	Renal carnitine transport defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3452141001000117	Carnitin-Mangel, primärer systemischer	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6049741000241118	déficit systémique primaire en carnitine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6049751000241115	déficit en transporteur rénal de la carnitine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6049761000241117	défaut de captation de la carnitine cellulaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6049741000241118	déficit systémique primaire en carnitine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6049751000241115	déficit en transporteur rénal de la carnitine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6049761000241117	défaut de captation de la carnitine cellulaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452141001000117	Carnitin-Mangel, primärer systemischer	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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