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Amyloid Neuropathies, Familial (CUI C0206245) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0206245

NCI Thesaurus Code: C84554  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare inherited neuropathy characterized by deposition of amyloid in the peripheral nerves.

MSH Definition: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.

Synonyms & Abbreviations: (see Synonym Details)
AF type amyloidosis
Amyloid Neuropathies, Familial [Disease/Finding]
Amyloid Neuropathies, Familial
Amyloid Neuropathy, Familial
Amyloid Polyneuropathies, Familial
Amyloid Polyneuropathy, Familial
Amyloidoses, Hereditary Neuropathic
Amyloidosis, Hereditary Neuropathic
AMYLOIDOSIS, HEREDITARY, NEUROPATHIC
Familial Amyloid Neuropathies
Familial Amyloid Neuropathy
Familial Amyloid Polyneuropathies
Familial amyloid polyneuropathy (disorder)
Familial amyloid polyneuropathy
Familial neuropathic amyloidosis
Familial polyneuropathic amyloidosis
Hereditary Neuropathic Amyloidoses
Hereditary neuropathic amyloidosis
Neuropathic Amyloidoses, Hereditary
Neuropathic Amyloidosis, Hereditary
Neuropathic heredofamilial amyloidosis
Neuropathies, Familial Amyloid
Neuropathy, Familial Amyloid
PARAMYLOIDOSIS, FAMILIAL
Polyneuropathies, Familial Amyloid
Polyneuropathy, Familial Amyloid

External Source Codes: 
NCI Thesaurus Code C84554 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL 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 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID C3732 SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DX 20020101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HN 2002; use AMYLOID NEUROPATHIES 1994-2001; for FAMILIAL AMYLOID POLYNEUROPATHIES use AMYLOID NEUROPATHIES 1994-2001 MSH
IAN DEFAULT ICD10
INCLUSION_TERM Amyloid polyneuropathy (Portuguese) ICD10
MDA 20010725 MSH
MESH_DEFINITION Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN. NDFRT
MESH_DUI D028227 NDFRT
MESH_NAME Amyloid Neuropathies, Familial NDFRT
MESH_UI M0026861 NDFRT
MMR 20130708 MSH
MN C10.574.500.050 MSH
MN C10.668.829.050.050 MSH
MN C16.320.400.050 MSH
MN C16.320.565.176.050 MSH
MN C18.452.648.176.050 MSH
MN C18.452.845.500.050.050 MSH
MN C18.452.845.500.075.050 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000010997 NDFRT
ORDER_NO 04754 ICD10CM
PM 2002; see AMYLOID NEUROPATHIES 1994-2001; for FAMILIAL AMYLOID POLYNEUROPATHIES see AMYLOID NEUROPATHIES 1994-2001 MSH
PRIMARY_PATH 10019889$10010445$10027664$10010331$Hereditary neuropathic amyloidosis$Congenital disorders NEC$Congenital and hereditary disorders NEC$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 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 20.0 MDR
PT_IN_VERSION 20.1 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
RXAUI 3108688 RXNORM
RXAUI 3108689 RXNORM
RXAUI 3159671 RXNORM
RXAUI 3287477 RXNORM
RXCUI 1022654 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 42295001 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E85.1 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~E85.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E85.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF FAMILIAL AMYLOID POLYNEUROPATHY WITH CUTANEOUS AMYLOIDOSIS CHOOSE E85.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 402460000 | Familial amyloid polyneuropathy with cutaneous amyloidosis | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E85.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E85.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C3732 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T053181 MSH
TERMUI T053182 MSH
TERMUI T751279 MSH
TH NLM (1994) MSH
TH NLM (2010) MSH
TH OMIM (2013) 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=C0206245

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