29692004: xanthinurie type II (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...
• \Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Metabolic disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency
• \Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency

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
49668019	Combined molybdoflavoprotein enzyme deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
49669010	Hereditary xanthinuria, type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
49670011	Deficiency of molybdenum cofactor	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
49671010	Xanthine oxidase-sulfite oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484364013	Hereditary xanthinuria type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484365014	Molybdenum cofactor deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484366010	Combined xanthine oxidase and aldehyde oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484367018	Xanthine oxidase-sulphite oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484368011	Combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484369015	Combined xanthine oxidase and sulphite oxidase and aldehyde oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760614019	Combined molybdoflavoprotein enzyme deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4343751000146113	xanthinurie type II (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4343761000146111	xanthinurie type II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10963481000146114	molybdeen-co-factordeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12512821000146117	deficiëntie van cofactor molybdeen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12512941000146115	molybdeencofactordeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12512951000146117	deficiëntie van molybdeencofactor	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12512961000146119	gecombineerde deficiëntie van xanthinedehydroxygenase en aldehydeoxidase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10805211000146114	Zeer zeldzame, erfelijke stofwisselingziekte waarbij er een tekort is aan de stof molybdeen waardoor bepaalde enzymen niet goed werken; kinderen met deze ziekte krijgen kort na de geboorte last van ernstige stuiptrekkingen en later van een te hoge spierspanning en een ernstige psychomotorische achterstand; deze symptomen worden veroorzaakt door een ophoping van sulfiet.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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