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88518009: ziekte van Wilson (aandoening)

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

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Wilson's disease

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Wilson's disease
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Wilson's disease
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Wilson's disease
\Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Chorea\Wilson's disease
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Wilson's disease
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Wilson's disease
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Wilson's disease

\Finding of movement (finding)\Involuntary movement\Chorea\Wilson's disease
\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Chorea\Wilson's disease

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Wilson's disease
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Wilson's disease
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Wilson's disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Wilson's disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Wilson's disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Wilson's disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Wilson's disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Wilson's disease

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Wilson's disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Wilson's disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Wilson's disease
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Wilson's disease
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Wilson's disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Wilson's disease
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Wilson's disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Wilson's disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Wilson's disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Wilson's disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Wilson's disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Wilson's disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Wilson's disease
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Wilson's disease
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Wilson's disease
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Wilson's disease
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Wilson's disease
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Wilson's disease
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Wilson's disease
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Wilson's disease
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of copper metabolism\Wilson's disease
\Disease\Movement disorder\Extrapyramidal disease\Chorea\Wilson's disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Wilson's disease	Is a	aandoening met chorea als primaire manifestatie	false	Inferred relationship	Some
Wilson's disease	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Wilson's disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Wilson's disease	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Some
Wilson's disease	Is a	Disorder of copper metabolism	true	Inferred relationship	Some
Wilson's disease	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Wilson's disease	Is a	Degenerative disorder	false	Inferred relationship	Some
Wilson's disease	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Wilson's disease	Finding site	Liver structure	false	Inferred relationship	Some	1
Wilson's disease	Finding site	Brain tissue structure	false	Inferred relationship	Some	1
Wilson's disease	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Some
Wilson's disease	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Wilson's disease	Is a	Lesion of brain	false	Inferred relationship	Some
Wilson's disease	Is a	Lesion of liver (disorder)	false	Inferred relationship	Some
Wilson's disease	Is a	Degenerative brain disorder	true	Inferred relationship	Some
Wilson's disease	Finding site	Liver structure	true	Inferred relationship	Some	1
Wilson's disease	Finding site	Brain tissue structure	false	Inferred relationship	Some	1
Wilson's disease	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Wilson's disease	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Wilson's disease	Finding site	Liver structure	false	Inferred relationship	Some	2
Wilson's disease	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	3
Wilson's disease	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	4
Wilson's disease	Finding site	Brain tissue structure	false	Inferred relationship	Some	3
Wilson's disease	Finding site	Body tissue structure	false	Inferred relationship	Some	4
Wilson's disease	Finding site	Brain tissue structure	false	Inferred relationship	Some	2
Wilson's disease	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2
Wilson's disease	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Wilson's disease	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	3
Wilson's disease	Finding site	Body tissue structure	true	Inferred relationship	Some	3
Wilson's disease	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Wilson's disease	Has interpretation	Abnormal	true	Inferred relationship	Some	4
Wilson's disease	Is a	Chorea	true	Inferred relationship	Some
Wilson's disease	Finding site	Basal ganglion structure (body structure)	true	Inferred relationship	Some	5
Wilson's disease	Interprets	Movement	true	Inferred relationship	Some	6
Wilson's disease	Interprets	Movement observable	true	Inferred relationship	Some	4
Wilson's disease	Finding site	Brain structure	true	Inferred relationship	Some	2
Wilson's disease	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chorea co-occurrent and due to Wilson disease (disorder)	Due to	True	Wilson's disease	Inferred relationship	Some	3
Chorea co-occurrent and due to Wilson disease (disorder)	Is a	True	Wilson's disease	Inferred relationship	Some
Westphal-Strumpell syndrome	Is a	True	Wilson's disease	Inferred relationship	Some
Hypoparathyroidism due to Wilson disease	Due to	True	Wilson's disease	Inferred relationship	Some	3
Dementia due to Wilson disease (disorder)	Due to	True	Wilson's disease	Inferred relationship	Some	3
Dystonia due to Wilson disease (disorder)	Due to	True	Wilson's disease	Inferred relationship	Some	3
Sunflower cataract (disorder)	Due to	True	Wilson's disease	Inferred relationship	Some	1

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
146760018	Wilson's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
146761019	Hepatolenticular degeneration syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
146762014	Copper storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
146763016	Cerebral pseudosclerosis	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
146764010	Westphal-Strümpell syndrome	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
146765011	Westphal-Strumpell syndrome	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
508067014	Hepatocerebral degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508068016	Hepatolenticular degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508069012	Kinnier-Wilson disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
508070013	Neurohepatic degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508071012	Progressive lenticular degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508072017	WD - Wilson's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
831218010	Wilson's disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2840410019	Wilson disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
86241000146113	ziekte van Wilson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
86251000146111	koperstapelingsziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
945461000146116	ziekte van Wilson (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2184771000146111	hepatolenticulaire degeneratie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7593341000146111	Hierbij is er sprake van een stoornis van de koperstofwisseling.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)