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768553002: 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


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypermanganesemia with dystonia (disorder) interprète (attribut) Movement (observable entity) true Inferred relationship Some 2
Hypermanganesemia with dystonia (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Hypermanganesemia with dystonia (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hypermanganesemia with dystonia (disorder) est un(e) (attribut) Disorder of manganese metabolism true Inferred relationship Some
Hypermanganesemia with dystonia (disorder) localisation d'une constatation (attribut) Extrapyramidal system structure true Inferred relationship Some 1
Hypermanganesemia with dystonia (disorder) est un(e) (attribut) dystonie true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Hypermanganesemia with dystonia, polycythaemia, and cirrhosis est un(e) (attribut) True Hypermanganesemia with dystonia (disorder) Inferred relationship Some
Hypermanganesemia with dystonia 2 (disorder) est un(e) (attribut) True Hypermanganesemia with dystonia (disorder) Inferred relationship Some

This concept is not in any reference sets

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