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230673001: Congenital end-plate acetylcholine receptor 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
345611014 Congenital end-plate acetylcholine receptor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
618513017 Congenital end-plate acetylcholine receptor deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1457491000005114 Kongenit acetylkolinreceptormangel 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 acetylcholine receptor deficiency Is a Congenital myasthenic syndrome (disorder) true Inferred relationship Some
Congenital end-plate acetylcholine receptor deficiency Finding site Skeletal muscle structure (body structure) false Inferred relationship Some
Congenital end-plate acetylcholine receptor deficiency Finding site Neuromuscular junction (cell structure) false Inferred relationship Some
Congenital end-plate acetylcholine receptor deficiency Finding site Structure of immune system (body structure) false Inferred relationship Some
Congenital end-plate acetylcholine receptor deficiency Pathological process (attribute) Autoimmune process false Inferred relationship Some
Congenital end-plate acetylcholine receptor deficiency Occurrence Congenital false Inferred relationship Some
Congenital end-plate acetylcholine receptor deficiency Has definitional manifestation Immune system finding false Inferred relationship Some
Congenital end-plate acetylcholine receptor deficiency Due to immunreaktion på overfølsomhed false Inferred relationship Some
Congenital end-plate acetylcholine receptor deficiency Due to Hypersensitivity reaction (disorder) false Inferred relationship Some
Congenital end-plate acetylcholine receptor deficiency Pathological process (attribute) Hypersensitivity process (qualifier value) true Inferred relationship Some 3
Congenital end-plate acetylcholine receptor deficiency Occurrence Congenital true Inferred relationship Some 1
Congenital end-plate acetylcholine receptor deficiency Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital end-plate acetylcholine receptor deficiency Finding site Neuromuscular junction (cell structure) true Inferred relationship Some 1
Congenital end-plate acetylcholine receptor deficiency Pathological process (attribute) Autoimmune process true Inferred relationship Some 1
Congenital end-plate acetylcholine receptor deficiency Finding site Skeletal muscle structure (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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