54627004: Hereditary xanthinuria (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Hereditary xanthinuria (disorder)

\Metabolic renal disease\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)

\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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 (disorder)
\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\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary xanthinuria (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary xanthinuria (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\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\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\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)\Hereditary xanthinuria (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Hereditary xanthinuria (disorder)
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism (disorder)\Hereditary xanthinuria (disorder)
\Disease\Metabolic disease\Metabolic renal disease\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of xanthine oxidase\Hereditary xanthinuria (disorder)

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

90786016 Hereditary xanthinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

792879017 Hereditary xanthinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5223430017 Classical xanthinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

90786016 Hereditary xanthinuria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

90786016 Hereditary xanthinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

792879017 Hereditary xanthinuria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

792879017 Hereditary xanthinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5223430017 Classical xanthinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3391821001000111 Xanthinurie, hereditäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

869601000172113 xanthinurie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

993391000172116 lithiase xanthique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

869601000172113 xanthinurie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

993391000172116 lithiase xanthique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3391821001000111 Xanthinurie, hereditäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary xanthinuria (disorder)	Is a	Disorder of purine metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder)	Is a	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder)	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder)	Is a	Hereditary metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder)	Is a	Deficiency of xanthine oxidase	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder)	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder)	Finding site	Kidney structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Combined molybdoflavoprotein enzyme deficiency	Is a	True	Hereditary xanthinuria (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated xanthine oxidase deficiency	Is a	False	Hereditary xanthinuria (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, haematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.	Is a	True	Hereditary xanthinuria (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets