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Amyloidosis (CUI C0002726) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0002726

NCI Thesaurus Code: C2868  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.

MEDLINEPLUS Definition: 

Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should.

There are three main types of amyloidosis:

  • Primary - with no known cause
  • Secondary - caused by another disease, including some types of cancer
  • Familial - passed down through genes

Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated.

HPO Definition: The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. [HPO:probinson, pmid:21039326]

CDISC Definition: An accumulation of amyloid protein.

NCI-GLOSS Definition: A group of diseases in which protein builds up in certain organs (localized amyloidosis) or throughout the body (systemic amyloidosis). Amyloidosis may be either primary (with no known cause), secondary (caused by another disease, including some types of cancer, such as multiple myeloma), or hereditary (passed down from parents to children). Many organs are affected by amyloidosis. The organs affected may depend on whether the amyloidosis is the primary, secondary, or hereditary form.

CTEP Definition: CTEP_For_FDA: 10002024/Amyloidosis NOS

CSP Definition: any disease manifested by the pathogenic accumulation of amyloid in organs and tissues.

MSH Definition: A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.

Synonyms & Abbreviations: (see Synonym Details)
amyloid disease
Amyloidoses
Amyloidosis (disorder)
Amyloidosis [Disease/Finding]
Amyloidosis NOS
Amyloidosis, unspecified
amyloidosis
AMYLOID

External Source Codes: 
NCI Thesaurus Code C2868 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN coord IM with organ/dis precoord (IM); /genet: consider also AMYLOIDOSIS, HEREDITARY MSH
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
COMMENT Same as 'amyloid deposition' RADLEX
Contributing_Source CDISC NCI
Contributing_Source CTEP NCI
CTV3ID C373. SNOMEDCT_US
DATE_CREATED 08/24/2009 MEDLINEPLUS
DATE_CREATED 2011-03-06T10:56:39Z HPO
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DID 1849-1519 CSP
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXCLUDES1 Alzheimer's disease (G30.0-) ICD10CM
FX D000682 MSH
FX D008232 MSH
FX D010265 MSH
HPO_COMMENT The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy. HPO
IAN DEFAULT ICD10
MDA 19990101 MSH
MESH_DEFINITION A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits. NDFRT
MESH_DUI D000686 NDFRT
MESH_NAME Amyloidosis NDFRT
MESH_UI M0001053 NDFRT
MMR 20090706 MSH
MN C18.452.845.500 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/amyloidosis.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/amyloidosis.html MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000000375 NDFRT
ORDER_NO 04752 ICD10CM
ORDER_NO 04759 ICD10CM
PRIMARY_PATH 10002022$10002023$10027665$10021428$Amyloidosis$Amyloidoses$Immune disorders NEC$Immune system disorders MDR
PRIMARY_SOC 10021428 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
REF orcid.org/0000-0001-6908-9849 HPO
REPLACED_BY RID5188 RADLEX
RXAUI 3108725 RXNORM
RXAUI 3108726 RXNORM
RXCUI 1024175 RXNORM
SNOMED_CID 17602002 NDFRT
SNOMEDID D6-94500 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E85.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E85.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E85.9 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E85.9 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C373. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-94500 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERM_STATUS Retired RADLEX
TERMUI T002087 MSH
TH NLM (1966) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0002726

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