cryopyrin-associated periodic syndromes

Preferred Label : cryopyrin-associated periodic syndromes;

MeSH definition : A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.;

MeSH synonym : cryopyrin-associated periodic syndrome; cryopyrinopathy; cryopyrinopathies; cryopyrin associated periodic syndromes; Cryopyrin Associated Periodic Syndrome;

CISMeF synonym : periodic syndromes, cryopyrin-associated; periodic syndrome, cryopyrin-associated; syndrome, cryopyrin-associated periodic; syndromes, cryopyrin-associated periodic;

MeSH hyponym : IOMIDs; Muckle-Wells syndrome; chronic infantile neurological, cutaneous, and articular syndrome; familial cold autoinflammatory syndrome; Muckle Wells Syndrome; Syndrome, Muckle-Wells; Urticaria, Deafness and Amyloidosis; UDA Syndrome; Syndrome, UDA; Syndromes, UDA; UDA Syndromes; Urticaria-Deafness-Amyloidosis Syndrome; Syndrome, Urticaria-Deafness-Amyloidosis; Syndromes, Urticaria-Deafness-Amyloidosis; Urticaria Deafness Amyloidosis Syndrome; Urticaria-Deafness-Amyloidosis Syndromes; Cold-Induced Autoinflammatory Syndrome, Familial; Cold Induced Autoinflammatory Syndrome, Familial; Familial Cold-Induced Autoinflammatory Syndrome; Familial Cold Induced Autoinflammatory Syndrome; Familial Cold Autoinflammatory Syndrome 1; FCAS1; Familial Cold Urticaria; Cold Urticarias, Familial; Familial Cold Urticarias; Urticaria, Familial Cold; Urticarias, Familial Cold; Cold Urticaria, Familial; Neonatal Onset Multisystem Inflammatory Disease; NOMID; Multisystem Inflammatory Disease, Neonatal-Onset; Multisystem Inflammatory Disease, Neonatal Onset; Infantile Onset Multisystem Inflammatory Disease; IOMID Syndrome; IOMID Syndromes; Syndrome, IOMID; Syndromes, IOMID; Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome; CINCA; Chronic Neurologic Cutaneous and Articular Syndrome; Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome; Chronic Neurologic, Cutaneous, and Articular Syndrome; Prieur-Griscelli Syndrome; Prieur Griscelli Syndrome; Prieur-Griscelli Syndromes; Syndrome, Prieur-Griscelli; Syndromes, Prieur-Griscelli; CINCA Syndrome; IOMID;

Wikipedia link : https://en.wikipedia.org/wiki/Cryopyrin-associated periodic syndromes;

Details

Origin ID

D056587;

UMLS CUI

C2316212;

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)
- CINCA syndrome [PASCAL descriptor]
- CINCA syndrome [ORDO Disease]
- CINCA syndrome [MedDRA LLT]
- Calcyphosine [OMIM gene]
- Chronic Infantile Neurological Cutaneous and Articular Syndrome [NCIt concept]
- Chronic infantile neurological cutaneous and articular syndrome [MedDRA Preferred Term]
- Chronic infantile neurological, cutaneous and articular syndrome (disorder) [SNOMED CT concept]
- Cinca syndrome [OMIM Phenotype]
- FCAS [MedDRA LLT]
- Familial Cold Autoinflammatory Syndrome [NCIt concept]
- Familial amyloid nephropathy with urticaria AND deafness (disorder) [SNOMED CT concept]
- Familial cold autoinflammatory syndrome [ICD-11 More detail]
- Familial cold autoinflammatory syndrome [OMIM phenotypic series]
- Familial cold autoinflammatory syndrome [MedDRA Preferred Term]
- Familial cold urticaria [PASCAL descriptor]
- Familial cold urticaria [ORDO Disease]
- Familial cold urticaria [MedDRA LLT]
- Familial cold urticaria (disorder) [SNOMED CT concept]
- Muckle-Wells Syndrome [NCIt concept]
- Muckle-Wells syndrome [PASCAL descriptor]
- Muckle-Wells syndrome [DO Concept]
- Muckle-Wells syndrome [MedDRA Preferred Term]
- Muckle-Wells syndrome [ORDO Disease]
- Muckle-wells syndrome [OMIM Phenotype]
- NOMID [MedDRA LLT]
- Neonatal-onset multisystemic inflammatory disease [MedDRA LLT]
- SOWS Short - Feeling Sick [NCIt concept]
- community-acquired pneumonia [CISMeF Querying Strategy]
- familial amyloid nephropathy with urticaria and deafness [SNOMED Notion]
- familial cold autoinflammatory syndrome [DO Concept]
- poison control centers [CISMeF resources Type]
Currated CISMeF NLP mapping
- Catastrophic antiphospholipid syndrome [ORDO Disease]
- Catastrophic antiphospholipid syndrome [MedDRA LLT]
- Catastrophic antiphospholipid syndrome (disorder) [SNOMED CT concept]
- Cryopyrin associated periodic syndrome [MedDRA Preferred Term]
- Cryopyrin associated periodic syndrome (disorder) [SNOMED CT concept]
- Cryopyrin-Associated Periodic Syndrome [NCIt concept]
- Cryopyrin-associated periodic syndrome [ORDO Disease]
- Cryopyrin-associated periodic syndromes [ICD-11 Subcategory]
- cryopyrin associated periodic syndrome [Disease (Nov.)]
DO Cross reference
- Muckle-Wells syndrome [DO Concept]
False automatic mappings
- CINCA Syndrome [DO Concept]
- Functional abdominal pain syndrome [ICD-11 Subcategory]
Indexing information
- NLRP3 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- CINCA syndrome [ORDO Disease]
ORDO relation(s)
- Cryopyrin-associated periodic syndrome [ORDO Disease]
Record concept(s)
- Cryopyrin-Associated periodic syndromes [MeSH concept]
- Familial Cold Autoinflammatory Syndrome 1 [MeSH concept]
- Muckle-Wells syndrome [MeSH concept]
- chronic infantile neurological, cutaneous, and articular syndrome [MeSH concept]
- familial cold autoinflammatory syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- cold hypersensitivity [MeSH Supplementary Concept]
- familial cold autoinflammatory syndrome 2 [MeSH Supplementary Concept]
See also
- NLR Family, Pyrin Domain-Containing 3 Protein [MeSH Descriptor]
See also inter- (CISMeF)
- Catastrophic antiphospholipid syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Catastrophic antiphospholipid syndrome [ORDO Disease]
- Cryopyrin associated periodic syndrome [MedDRA Preferred Term]
- Cryopyrin associated periodic syndrome (disorder) [SNOMED CT concept]
- Cryopyrin-Associated Periodic Syndrome [NCIt concept]
- Cryopyrin-associated periodic syndrome [ORDO Disease]
- Cryopyrin-associated periodic syndromes [ICD-11 Subcategory]
- cryopyrin associated periodic syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- Chronic infantile neurological, cutaneous and articular syndrome [ICD-11 More detail]
- Familial cold autoinflammatory syndrome 1 [OMIM Phenotype]
- Muckle-Wells syndrome [Disease (Nov.)]
- Muckle-Wells syndrome [ICD-11 More detail]
- familial cold autoinflammatory syndrome 1 [DO Concept]
- familial cold urticaria [Disease (Nov.)]
- neonatal onset multisystem inflammatory disease [Disease (Nov.)]

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