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230669004: Genetically determined myasthenia (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
345606012 Genetically determined myasthenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
618509012 Genetically determined myasthenia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
85711000172115 myasthénie génétiquement déterminée 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)
517161000172113 genetisch bepaalde 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)

9 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
Familial infantile myasthenia Is a False Genetically determined myasthenia Inferred relationship Some
Congenital myasthenic syndrome (disorder) Is a True Genetically determined myasthenia Inferred relationship Some
Pseudomyopathic myasthenia Is a True Genetically determined myasthenia Inferred relationship Some
Putative defect in acetylcholine synthesis or packaging Is a True Genetically determined myasthenia Inferred relationship Some
Congenital end-plate acetylcholinesterase deficiency (disorder) Is a False Genetically determined myasthenia Inferred relationship Some
Decrease of motor end-plate potential amplitude without acetylcholine receptor deficiency Is a True Genetically determined myasthenia Inferred relationship Some
Abnormality of synaptic vesicles Is a True Genetically determined myasthenia Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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