89449005: Systemic amyloidosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Systemic disease\Systemic amyloidosis

\Amyloidosis\Systemic amyloidosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

148308019 Systemic amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

832344014 Systemic amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4682651000241111 amyloïdose systématisée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Systemic amyloidosis	Is a	Amyloidosis	true	Inferred relationship	Some
Systemic amyloidosis	Associated morphology	Amyloid deposition	true	Inferred relationship	Some	1
Systemic amyloidosis	Finding site	Body system structure	false	Inferred relationship	Some
Systemic amyloidosis	Is a	Systemic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Wild type ATTR amyloidosis (disorder)	Is a	True	Systemic amyloidosis	Inferred relationship	Some
Reactive systemic amyloidosis	Is a	False	Systemic amyloidosis	Inferred relationship	Some
Amyloid of familial Mediterranean fever	Is a	False	Systemic amyloidosis	Inferred relationship	Some
Systemic amyloidosis affecting skin (disorder)	Is a	True	Systemic amyloidosis	Inferred relationship	Some
syndrome de Meretoja	Is a	False	Systemic amyloidosis	Inferred relationship	Some
Cerebral amyloid angiopathy associated with systemic amyloidosis	Associated with	True	Systemic amyloidosis	Inferred relationship	Some	1
A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.	Is a	True	Systemic amyloidosis	Inferred relationship	Some
Secondary systemic amyloidosis (disorder)	Is a	True	Systemic amyloidosis	Inferred relationship	Some
Familial amyloid polyneuropathy	Is a	True	Systemic amyloidosis	Inferred relationship	Some
Factor X deficiency due to systemic amyloidosis	Due to	True	Systemic amyloidosis	Inferred relationship	Some	1
A rare nonhereditary systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals medullar amyloid deposits, renal tubular atrophy, interstitial fibrosis, and glomerular sclerosis.	Is a	True	Systemic amyloidosis	Inferred relationship	Some
A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.	Is a	True	Systemic amyloidosis	Inferred relationship	Some
A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described.	Is a	True	Systemic amyloidosis	Inferred relationship	Some
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.	Is a	True	Systemic amyloidosis	Inferred relationship	Some

This concept is not in any reference sets