1003387003: Molybdenum cofactor deficiency complementation group C (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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.

\Metabolic renal disease\Deficiency of xanthine oxidase\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.

\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Deficiency of xanthine oxidase\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital 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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital 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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital 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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital 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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital 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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\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\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Disease\Metabolic disease\Hereditary metabolic disease\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Deficiency of xanthine oxidase\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Disease\Metabolic disease\Metabolic renal disease\Deficiency of xanthine oxidase\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of xanthine oxidase\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4167394016 A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4168135014 Molybdenum cofactor deficiency complementation group C en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4168136010 Molybdenum cofactor deficiency complementation group C (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7692501000241117 déficit en MoCo (molybdenum cofactor) de type C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7692511000241115 MOCOD (molybdenum cofactor deficiency) de type C fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7692521000241110 déficit en cofacteur à molybdène de type C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.	Is a	Combined molybdoflavoprotein enzyme deficiency	true	Inferred relationship	Some
A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation.	Finding site	Kidney structure	true	Inferred relationship	Some	1

Inbound Relationships

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Source

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Reference Sets