1003387003: xanthinurie type II met deficiëntie van molybdeencofactor in complementatiegroep C (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\Molybdenum cofactor deficiency complementation group C

\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\Molybdenum cofactor deficiency complementation group C

\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\Molybdenum cofactor deficiency complementation group C
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\Molybdenum cofactor deficiency complementation group C
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\Molybdenum cofactor deficiency complementation group C
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\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\Molybdenum cofactor deficiency complementation group C
\Disease\Metabolic disease\Hereditary metabolic disease\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\Molybdenum cofactor deficiency complementation group C
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\Molybdenum cofactor deficiency complementation group C
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\Molybdenum cofactor deficiency complementation group C
\Disease\Metabolic disease\Metabolic renal disease\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\Molybdenum cofactor deficiency complementation group C
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of xanthine oxidase (disorder)\Hereditary xanthinuria\Combined molybdoflavoprotein enzyme deficiency\Molybdenum cofactor deficiency complementation group C

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

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

12512931000146111 xanthinurie door molybdeencofactordeficiëntie type C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14402781000146110 xanthinurie type II met deficiëntie van molybdeencofactor in complementatiegroep C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14402791000146112 xanthinurie type II met deficiëntie van molybdeencofactor in complementatiegroep C (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Molybdenum cofactor deficiency complementation group C	Is a	Combined molybdoflavoprotein enzyme deficiency	true	Inferred relationship	Some
Molybdenum cofactor deficiency complementation group C	Finding site	Kidney structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets