Code System Concept

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Code System Concept

Code System Concept Code	768553002
Code System Concept Name	Hypermanganesemia with dystonia (disorder)
Code System Preferred Concept Name	Hypermanganesemia with dystonia (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3686022016	Hypermanganesemia with dystonia	Active	Synonym	false	false
3686023014	Familial manganese-induced neurotoxicity	Active	Synonym	false	false
3686024015	HMNDYT - hypermanganesemia with dystonia	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Disorder of manganese metabolism (disorder) {63656007 , SNOMED-CT } Dystonia (disorder) {15802004 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Hypermanganesemia with dystonia (disorder) {768553002 , SNOMED-CT } Parent/Child (Relationship Type) Hypermanganesemia with dystonia 2 (disorder) {768554008 , SNOMED-CT } Hypermanganesemia with dystonia, polycythemia, and cirrhosis (disorder) {702377007 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,