768553002: Hypermanganesemia with dystonia (disorder)

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

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3686022016	Hypermanganesemia with dystonia	en	Synonym	Active	Case insensitive	SNOMED CT core
3686023014	Familial manganese-induced neurotoxicity	en	Synonym	Active	Case insensitive	SNOMED CT core
3686024015	HMNDYT - hypermanganesemia with dystonia	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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