722292000: Autosomal dominant beta2-microglobulinic amyloidosis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
• \Disease\Genetic disease\Hereditary disease\Hereditary amyloidosis (disorder)\A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
• \Disease\Metabolic disease\Hereditary metabolic disease\A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
• \Disease\Amyloidosis\Hereditary amyloidosis (disorder)\A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5402882011	A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402883018	A rare form of amyloidosis characterised by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331471014	Autosomal dominant beta2-microglobulinic amyloidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331472019	Autosomal dominant beta2-microglobulinic amyloidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331473012	Variant ABeta2M amyloidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5816661000241113	amyloïdose bêta2-microglobulinique autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5816671000241117	amylose bêta2-microglobulinique autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452841001000110	ABeta2M-Amyloidose, variante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start