768553002: Hypermanganesemia with dystonia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hypermanganesemia with dystonia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypermanganesemia with dystonia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hypermanganesemia with dystonia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hypermanganesemia with dystonia (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)
• \Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of trace mineral metabolism\Disorder of manganese metabolism\Hypermanganesemia with dystonia (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3686021011	Hypermanganesemia with dystonia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686022016	Hypermanganesemia with dystonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686023014	Familial manganese-induced neurotoxicity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686024015	HMNDYT - hypermanganesemia with dystonia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686027010	An inherited disorder characterised by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythaemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686028017	An inherited disorder characterized by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686021011	Hypermanganesemia with dystonia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686022016	Hypermanganesemia with dystonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686023014	Familial manganese-induced neurotoxicity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686024015	HMNDYT - hypermanganesemia with dystonia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686027010	An inherited disorder characterised by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythaemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686028017	An inherited disorder characterized by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6286691000241114	HMNDYT - hypermanganésémie avec dystonie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286701000241114	neurotoxicité familiale induite par le Mn (manganèse)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286711000241111	hypermanganésémie avec dystonie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286691000241114	HMNDYT - hypermanganésémie avec dystonie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286701000241114	neurotoxicité familiale induite par le Mn (manganèse)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286711000241111	hypermanganésémie avec dystonie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start