29692004: Combined molybdoflavoprotein enzyme deficiency (disorder)

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 urinary system (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 the genitourinary system (disorder)\Disorder of urinary system (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 urinary system (disorder)\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 urinary system (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)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (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\Disorder of urinary system (disorder)\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 urinary system (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)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (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)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\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 urinary system (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 the genitourinary system (disorder)\Disorder of urinary system (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 urinary system (disorder)\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 urinary system (disorder)\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 urinary system (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 body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\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 urinary system (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 the genitourinary system (disorder)\Disorder of urinary system (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 urinary system (disorder)\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined molybdoflavoprotein enzyme deficiency	Is a	Hereditary xanthinuria	true	Inferred relationship	Some
Combined molybdoflavoprotein enzyme deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Combined molybdoflavoprotein enzyme deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Combined molybdoflavoprotein enzyme deficiency	Finding site	Kidney structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Molybdenum cofactor deficiency complementation group C	Is a	True	Combined molybdoflavoprotein enzyme deficiency	Inferred relationship	Some
Molybdenum cofactor deficiency complementation group A	Is a	True	Combined molybdoflavoprotein enzyme deficiency	Inferred relationship	Some
Molybdenum cofactor deficiency complementation group B	Is a	True	Combined molybdoflavoprotein enzyme deficiency	Inferred relationship	Some

This concept is not in any reference sets