Hereditary ATTR amyloidosis

ICD-11 code : 5D00.20;

Preferred Label : Hereditary ATTR amyloidosis;

ICD-11 synonym : Andrade type amyloid polyneuropathy; hereditary amyloid polyneuropathy Portuguese type; Portuguese amyloidosis; Portuguese amyloid polyneuropathy; polyneuropathy in amyloidosis; Paramyloidosis; Wohlwill-Corino Andrade syndrome; Transthyretin-related amyloidosis; familial amyloid polyneuropathy; Andrade syndrome; hereditary neuropathic amyloidosis Type 1; Corino de Andrade paramyloidosis; Swiss type amyloid polyneuropathy; type I familial amyloid polyneuropathy; type II familial amyloid polyneuropathy; familial polyneuropathic amyloidosis; familial amyloid neuropathy, Portuguese type; Neuropathic heredofamilial amyloidosis; familial neuropathic amyloidosis; FAP - [familial amyloid polyneuropathy]; amyloid polyneuropathy type 1; Portuguese polyneuritic amyloidosis; Japanese type amyloid polyneuropathy; familial amyloid neuropathy, Andrade type; Swedish type amyloid polyneuropathy; Portuguese type familial amyloid neuropathy; AF type amyloidosis; amyloidosis Type 1; amyloid polyneuropathy;

ICD-11 acronym : FAP;

ICD-11 inclusion : familial amyloid polyneuropathy, 30 met-for-val; Portuguese type amyloid polyneuropathy;

Details

Origin ID

807065795;

UMLS CUI

C0206245;

Automatic exact mappings (from CISMeF team)
- APC wt Allele [NCIt concept]
- Amyloidosis, hereditary systemic 1 [OMIM Phenotype]
- Carboxyl-ester lipase [OMIM gene]
- Congenital ATTR amyloidosis [MedDRA LLT]
- FAP Gene [NCIt concept]
- Familial Adenomatous Polyposis [NCIt concept]
- Familial adenomatous polyposis [ORDO Disease]
- Familial amyloid polyneuropathy, type II (disorder) [SNOMED CT concept]
- Familial amyloidotic polyneuropathy type 1 [PASCAL descriptor]
- Familial multiple polyposis syndrome (disorder) [SNOMED CT concept]
- Fibroblast activation protein, alpha [OMIM gene]
- Paroxysmal atrial fibrillation [ICD-10 Sub-category]
- Paroxysmal atrial fibrillation (disorder) [SNOMED CT concept]
- Polyneuropathy due to amyloidosis (disorder) [SNOMED CT concept]
- Prolyl Endopeptidase FAP [NCIt concept]
- amyloid neuropathies [MeSH Descriptor]
- amyloid polyneuropathy, swiss type [MeSH concept]
- amyloidosis, type i [SNOMED Notion]
- familial amyloid neuropathy, portuguese type [MeSH concept]
- familial amyloid polyneuropathy, type ii [SNOMED Notion]
- paramyloid deposition, nos [SNOMED Notion]
- paramyloidosis [DO Concept]
- transthyretin amyloidosis [DO Concept]
Currated CISMeF NLP mapping
- ATTRV30M amyloidosis [ORDO Disease]
- Familial Amyloid Neuropathy [NCIt concept]
- Familial amyloid polyneuropathy [MedDRA LLT]
- Familial amyloid polyneuropathy (disorder) [SNOMED CT concept]
- Hereditary ATTR amyloidosis [ORDO Disease]
- Neuropathic heredofamilial amyloidosis [ICD-10 Sub-category]
- amyloid neuropathies, familial [MeSH concept]
- amyloid neuropathies, familial [MeSH Descriptor]
- familial amyloid polyneuropathy, nos [SNOMED Notion]
False automatic mappings
- FAP Regimen [NCIt concept]
ICD-10 Mapping
- Neuropathic heredofamilial amyloidosis [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ATTRV30M amyloidosis [ORDO Disease]
- Familial Amyloid Neuropathy [NCIt concept]
- Familial amyloid polyneuropathy [MedDRA LLT]
- Familial amyloid polyneuropathy (disorder) [SNOMED CT concept]
- Hereditary neuropathic amyloidosis [MedDRA Preferred Term]
- Neuropathic heredofamilial amyloidosis [ICD-10 Sub-category]
- amyloid neuropathies, familial [MeSH Descriptor]
- amyloid neuropathies, familial [MeSH concept]
- familial amyloid neuropathy [Disease (Nov.)]
- familial amyloid polyneuropathy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Amyloid polyneuropathy type I (disorder) [SNOMED CT concept]

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