768554008: Hypermanganesemia with dystonia 2 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (disorder)
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (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)\Hypermanganesemia with dystonia 2 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (disorder)
• \Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of trace mineral metabolism\Disorder of manganese metabolism\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Hypermanganesemia with dystonia (disorder)\Hypermanganesemia with dystonia 2 (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
3686029013	HMNDYT2 - hypermanganesemia with dystonia 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686030015	Hypermanganesemia with dystonia 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686031016	Hypermanganesemia with dystonia 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404735012	A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404736013	A rare disorder of manganese transport characterised by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686029013	HMNDYT2 - hypermanganesemia with dystonia 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686030015	Hypermanganesemia with dystonia 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686031016	Hypermanganesemia with dystonia 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686032011	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. This disease is caused by mutations in the SLC39A14 gene responsible for instructions for proteins that transport manganese across cell membranes. Because SLC39A14 gene mutations prevent manganese from entering liver cells, this disease does not cause liver damage. Polycythemia is also absent but the reason for this is unknown. Inherited in an autosomal recessive pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686033018	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. This disease is caused by mutations in the SLC39A14 gene responsible for instructions for proteins that transport manganese across cell membranes. Because SLC39A14 gene mutations prevent manganese from entering liver cells, this disease does not cause liver damage. Polycythaemia is also absent but the reason for this is unknown. Inherited in an autosomal recessive pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404735012	A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404736013	A rare disorder of manganese transport characterised by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3438581001000119	Dystonie-Parkinsonismus-Hypermanganämie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6277001000241118	HMNDYT2 - hypermanganésémie avec dystonie de type 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6277011000241116	hypermanganésémie avec dystonie de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6277001000241118	HMNDYT2 - hypermanganésémie avec dystonie de type 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6277011000241116	hypermanganésémie avec dystonie de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438581001000119	Dystonie-Parkinsonismus-Hypermanganämie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start