amyloid neuropathies, familial

Preferred Label : amyloid neuropathies, familial;

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.;

MeSH synonym : hereditary neuropathic amyloidoses; hereditary neuropathic amyloidosis; neuropathic amyloidosis, hereditary; amyloid neuropathy, familial; amyloid polyneuropathy, familial; familial amyloid neuropathy; neuropathies, familial amyloid; familial amyloid neuropathies; neuropathy, familial amyloid; amyloidoses, hereditary neuropathic; amyloidosis, hereditary neuropathic; neuropathic amyloidoses, hereditary; familial amyloid polyneuropathies; amyloid polyneuropathies, familial; familial amyloid polyneuropathy; polyneuropathies, familial amyloid; polyneuropathy, familial amyloid;

CISMeF synonym : amyloid polyneuropathy, iowa type; syndrome, Wohlwill-Andrade; syndrome, Wohlwill-Corino andrade; syndrome, neuropathic amyloid; syndromes, neuropathic amyloid;

MeSH hyponym : familial amyloid polyneuropathy, type V; familial amyloid polyneuropathy, type IV; familial amyloid polyneuropathy, jewish type; familial amyloid neuropathy, portuguese type; amyloid polyneuropathy, british type; amyloid polyneuropathy, swiss type; familial amyloid polyneuropathy, type VI; familial amyloid polyneuropathy, appalachian type; Type VI Familial Amyloid Polyneuropathy; British Type Amyloid Polyneuropathy; Cerebral Amyloid Angiopathy, British Type; Iowa Type Amyloid Polyneuropathy; Type III Familial Amyloid Polyneuropathy; Familial Amyloid Polyneuropathy, Type III; Portuguese Type Familial Amyloid Neuropathy; Portuguese Polyneuritic Amyloidosis; Amyloidoses, Portuguese Polyneuritic; Amyloidosis, Portuguese Polyneuritic; Polyneuritic Amyloidoses, Portuguese; Portuguese Polyneuritic Amyloidoses; Polyneuritic Amyloidosis, Portuguese; Wohlwill-Corino Andrade Syndrome; Wohlwill Corino Andrade Syndrome; Familial Amyloid Neuropathy, Andrade Type; Familial Portuguese Polyneuritic Amyloidosis; Wohlwill-Andrade Syndrome; Wohlwill Andrade Syndrome; Amyloid Neuropathy Type 1; Neuropathic Amyloid Syndrome; Amyloid Syndrome, Neuropathic; Amyloid Syndromes, Neuropathic; Neuropathic Amyloid Syndromes; Type I Familial Amyloid Polyneuropathy; Familial Amyloid Polyneuropathy, Type I; Appalachian Type Familial Amyloid Polyneuropathy; Jewish Type Familial Amyloid Polyneuropathy; Type IV Familial Amyloid Polyneuropathy; Familial Amyloid Neuropathy, Finnish Type; Finnish Type Familial Amyloid Neuropathy; Type V Familial Amyloid Polyneuropathy; Swiss Type Amyloid Polyneuropathy; Type II Familial Amyloid Polyneuropathy; Familial Amyloid Polyneuropathy, Type II;

Wikipedia link : https://en.wikipedia.org/wiki/Familial amyloid neuropathies;

Details

Origin ID

D028227;

UMLS CUI

C0206245;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- AGel amyloidosis [ORDO Disease]
- Cerebral amyloid angiopathy, itm2b-related, 1 [OMIM Phenotype]
- Familial amyloid neuropathy, Finnish type [ICD-11 More detail]
- Familial amyloidotic polyneuropathy type 1 [PASCAL descriptor]
- ITM2B-related cerebral amyloid angiopathy 1 [DO Concept]
- Lattice corneal dystrophy (disorder) [SNOMED CT concept]
- familial amyloid neuropathy, finnish type [SNOMED Notion]
- familial amyloid polyneuropathy, jewish type [SNOMED Notion]
- familial amyloid polyneuropathy, type ii [SNOMED Notion]
- familial amyloid polyneuropathy, type vi [SNOMED Notion]
- lattice corneal dystrophy [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 [ICD-11 Sub-sub category]
- Hereditary neuropathic amyloidosis [MedDRA Preferred Term]
- Neuropathic heredofamilial amyloidosis [ICD-10 Sub-category (who)]
- familial amyloid neuropathy [Disease (Nov.)]
- familial amyloid polyneuropathy, nos [SNOMED Notion]
False UMLS correspondences (reviewed by CISMeF team)
- amyloidosis, type i [SNOMED Notion]
- familial amyloid neuropathy, finnish type [SNOMED Notion]
- familial amyloid polyneuropathy, iowa type [SNOMED Notion]
- familial amyloid polyneuropathy, jewish type [SNOMED Notion]
- familial amyloid polyneuropathy, type ii [SNOMED Notion]
- familial amyloid polyneuropathy, type vi [SNOMED Notion]
- lattice corneal dystrophy [SNOMED Notion]
False automatic mappings
- Amyloidosis, hereditary, transthyretin-related [OMIM Phenotype]
- Familial amyloid neuropathy, Finnish type (disorder) [Inactive SNOMED CT concept]
- Familial amyloid polyneuropathy, Iowa type (disorder) [SNOMED CT concept]
- Familial amyloid polyneuropathy, Jewish type (disorder) [SNOMED CT concept]
- Familial amyloid polyneuropathy, type II (disorder) [SNOMED CT concept]
- Familial amyloid polyneuropathy, type VI (disorder) [SNOMED CT concept]
- Meretoja syndrome (disorder) [SNOMED CT concept]
HPO term
- Lattice corneal dystrophy [HPO term]
Manual NTBT mappings (CISMeF)
- Rare hereditary systemic disease with peripheral neuropathy [ORDO Disease]
- Syndromic corneal dystrophy [ORDO Disease]
Record concept(s)
- Amyloid Polyneuropathy, Iowa Type [MeSH concept]
- amyloid neuropathies, familial [MeSH concept]
- amyloid polyneuropathy, british type [MeSH concept]
- amyloid polyneuropathy, swiss type [MeSH concept]
- familial amyloid neuropathy, portuguese type [MeSH concept]
- familial amyloid polyneuropathy, appalachian type [MeSH concept]
- familial amyloid polyneuropathy, jewish type [MeSH concept]
- familial amyloid polyneuropathy, type IV [MeSH concept]
- familial amyloid polyneuropathy, type V [MeSH concept]
- familial amyloid polyneuropathy, type VI [MeSH concept]
Related MeSH Supplementary Concept(s)
- Lattice Corneal Dystrophy, Type II [MeSH Supplementary Concept]
- amyloidosis, hereditary, Transthyretin-Related [MeSH Supplementary Concept]
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 ATTR amyloidosis [ICD-11 Sub-sub category]
- Hereditary neuropathic amyloidosis [MedDRA Preferred Term]
- Neuropathic heredofamilial amyloidosis [ICD-10 Sub-category]
- familial amyloid neuropathy [Disease (Nov.)]
- familial amyloid polyneuropathy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Amyloid polyneuropathy type I (disorder) [SNOMED CT concept]
- Hereditary gelsolin amyloidosis (disorder) [SNOMED CT concept]
- lattice corneal dystrophy [Disease (Nov.)]

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