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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)
1457451000005117 Kongenit acetylkolinesterasemangel i endeplader da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish 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 (body 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 immunreaktion på overfølsomhed 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 Combined disorder of muscle AND peripheral nerve (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

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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