Familial Amyloid Neuropathy

Preferred Label : Familial Amyloid Neuropathy;

NCIt synonyms : Amyloid Neuropathies, Familial; Familial Amyloid Polyneuropathy;

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

Details

Origin ID

C84554;

UMLS CUI

C0206245;

Automatic exact mappings (from CISMeF team)
- Amyloidosis, hereditary, transthyretin-related [OMIM Phenotype]
- transthyretin amyloidosis [DO Concept]
Currated CISMeF NLP mapping
- ATTRV30M amyloidosis [ORDO Disease]
- Familial amyloid polyneuropathy [MedDRA LLT]
- Familial amyloid polyneuropathy (disorder) [SNOMED CT concept]
- Hereditary ATTR amyloidosis [ICD-11 Sub-sub category]
- amyloid neuropathies, familial [MeSH Descriptor]
- amyloid neuropathies, familial [MeSH concept]
- familial amyloid neuropathy [Disease (Nov.)]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ATTRV30M amyloidosis [ORDO Disease]
- Familial amyloid polyneuropathy [MedDRA LLT]
- Familial amyloid polyneuropathy (disorder) [SNOMED CT concept]
- Hereditary ATTR amyloidosis [ICD-11 Sub-sub category]
- Hereditary neuropathic amyloidosis [MedDRA Preferred Term]
- Neuropathic heredofamilial amyloidosis [ICD-10 Sub-category]
- amyloid neuropathies, familial [MeSH concept]
- amyloid neuropathies, familial [MeSH Descriptor]
- familial amyloid neuropathy [Disease (Nov.)]
- familial amyloid polyneuropathy, nos [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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