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230677000: Congenital end-plate acetylcholinesterase deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
345616016 Congenital end-plate acetylcholinesterase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Lateralizable body structure reference set (foundation metadata concept)
618517016 Congenital end-plate acetylcholinesterase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
248241000172115 déficience congénitale de l'acétylcholinestérase de la plaque motrice 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)
285211000172119 congenitale eindplaat-acetylcholinesterase-deficiëntie 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)

0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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