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230672006: Congenital myasthenic syndrome (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
345610010 Congenital myasthenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3854359019 Congenital myasthenic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3854360012 Congenital myasthenic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3854361011 Congenital myasthenia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
91571000172115 myasthénie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
291601000172117 congenitale myasthenie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital myasthenic syndrome (disorder) Is a Genetically determined myasthenia true Inferred relationship Some
Congenital myasthenic syndrome (disorder) Finding site Structure of immune system (body structure) false Inferred relationship Some
Congenital myasthenic syndrome (disorder) Finding site Neuromuscular junction (cell structure) false Inferred relationship Some
Congenital myasthenic syndrome (disorder) Finding site Skeletal muscle structure false Inferred relationship Some
Congenital myasthenic syndrome (disorder) Pathological process (attribute) Autoimmune process false Inferred relationship Some
Congenital myasthenic syndrome (disorder) Is a Congenital disease (disorder) true Inferred relationship Some
Congenital myasthenic syndrome (disorder) Occurrence Congenital false Inferred relationship Some
Congenital myasthenic syndrome (disorder) Has definitional manifestation Immune system finding false Inferred relationship Some
Congenital myasthenic syndrome (disorder) Due to Immune hypersensitivity reaction false Inferred relationship Some
Congenital myasthenic syndrome (disorder) Due to Hypersensitivity reaction (disorder) false Inferred relationship Some
Congenital myasthenic syndrome (disorder) Pathological process (attribute) Hypersensitivity process (qualifier value) true Inferred relationship Some 3
Congenital myasthenic syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital myasthenic syndrome (disorder) Finding site Skeletal muscle structure false Inferred relationship Some 1
Congenital myasthenic syndrome (disorder) Finding site Neuromuscular junction (cell structure) true Inferred relationship Some 1
Congenital myasthenic syndrome (disorder) Pathological process (attribute) Autoimmune process true Inferred relationship Some 1
Congenital myasthenic syndrome (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital end-plate acetylcholine receptor deficiency Is a True Congenital myasthenic syndrome (disorder) Inferred relationship Some
Familial infantile myasthenia Is a True Congenital myasthenic syndrome (disorder) Inferred relationship Some
Acetylcholine resynthesis deficiency (disorder) Is a True Congenital myasthenic syndrome (disorder) Inferred relationship Some
Congenital end-plate acetylcholinesterase deficiency (disorder) Is a True Congenital myasthenic syndrome (disorder) Inferred relationship Some

This concept is not in any reference sets

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