702377007: Hypermanganesemia with dystonia, polycythemia, and cirrhosis (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2995270013	Hypermanganesemia with dystonia, polycythaemia, and cirrhosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995298011	Hypermanganesemia with dystonia, polycythemia, and cirrhosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995401011	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995693013	HMDPC - hypermanganesemia with dystonia, polycythemia and cirrhosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3008387017	HMDPC - hypermanganesemia with dystonia, polycythaemia and cirrhosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6236791000241113	syndrome d'hypermanganésémie avec dystonie, polycythémie et cirrhose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6236801000241112	HMDPC - hypermanganésémie avec dystonie, polycythémie et cirrhose	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3381801001000115	Zirrhose-Dystonie-Polyzythämie-Hypermanganämie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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