Terminology Service for NFDI4Health
Cryopyrin-Associated Periodic Syndromes
Go to external page http://purl.bioontology.org/ontology/MESH/D056587A 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.
Instance info
Synonyms
Familial Cold-Induced Autoinflammatory Syndrome, Syndromes, Prieur-Griscelli, Multisystem Inflammatory Disease, Neonatal-Onset, Cryopyrin-assoziiertes periodisches Syndrom (DE), Cryopyrinopathies, MWS (DE), Familial Cold Urticaria, Urticarias, Familial Cold, Urticaria, Deafness and Amyloidosis, Cold Induced Autoinflammatory Syndrome, Familial, Familiaeres kaelteinduziertes autoinflammatorisches Syndrom (DE), Familial Cold Autoinflammatory Syndrome 1, Syndrome, Urticaria-Deafness-Amyloidosis, Chronic Neurologic Cutaneous and Articular Syndrome, Muckle-Wells Syndrome, FCAS1, Familiäres kälteinduziertes autoinflammatorisches Syndrom (DE), Syndrome, Prieur-Griscelli, Cryopyrinopathy, Cold-Induced Autoinflammatory Syndrome, Familial, Chronic Neurologic, Cutaneous, and Articular Syndrome, Urticaria-Deafness-Amyloidosis Syndromes, Cryopyrin Associated Periodic Syndromes, Cryopyrin-Associated Periodic Syndrome, Chronisches infantiles neurologisches kutanes und artikuläres Syndrom (DE), UDA Syndromes, Chronic Infantile Neurological, Cutaneous, and Articular Syndrome, UDA Syndrome, Syndrome, Muckle-Wells, Syndrome, UDA, Muckle-Wells-Syndrom (DE), Urticaria Deafness Amyloidosis Syndrome, NOMID, Familiaere Kaelte-Urticaria (DE), Familiäre Kälte-Urticaria (DE), Urticaria, Familial Cold, IOMID Syndromes, Infantile Onset Multisystem Inflammatory Disease, Familiaeres Kaelte-autoinflammatorisches Syndrom (DE), Syndromes, UDA, Syndromes, Urticaria-Deafness-Amyloidosis, Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome, IOMID Syndrome, Syndromes, IOMID, Prieur-Griscelli Syndrome, Prieur-Griscelli Syndromes, CINCA-Syndrom (DE), CINCA, Multisystemische inflammatorische Erkrankung mit neonatalem Beginn (DE), Urticaria-Deafness-Amyloidosis Syndrome, Familiäres Kälte-autoinflammatorisches Syndrom (DE), Prieur Griscelli Syndrome, Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome, Muckle Wells Syndrome, Cold Urticarias, Familial, NOMID (DE), IOMID, Cold Urticaria, Familial, IOMID (DE), Familial Cold Autoinflammatory Syndrome, Syndrome, IOMID, Familial Cold Urticarias, Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Induced Autoinflammatory Syndrome, Chronisches infantiles neurologisches kutanes und artikulaeres Syndrom (DE), Multisystem Inflammatory Disease, Neonatal Onset, CINCA Syndrome, CAPS (DE)
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
DC
1
DX
20100101
FX
D000071199
HN
2010; use Cryopyrin-associated Periodic Syndromes, 2010
MDA
20090706
MMR
20170117
MN
C17.800.827.368.500,C16.320.382.500
PM
2010; see Cryopyrin-associated Periodic Syndromes, 2010
QB
http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
RO
http://purl.bioontology.org/ontology/MESH/D000071199
SIB
http://purl.bioontology.org/ontology/MESH/D010505,http://purl.bioontology.org/ontology/MESH/D054078,http://purl.bioontology.org/ontology/MESH/D001528
TERMUI
T735343,T845159,T735342,T732274,T842121,T841371,T735341,T732370,T732411,T732412,T732364,T783015,T783013,T768393,T812329,T816926,T816924,T816925,T812326,T816923,T812327,T842119,T842118,T732365,T732366,T769283,T732368
TH
GHR (2014),ORD (2010),OMIM (2013),NLM (2011),NLM (2010),NLM (2013),NLM (2012)
cui
C4551895,C2316212,C0343068,C0409818,C0268390
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C569627,http://purl.bioontology.org/ontology/MESH/C567090
tui
T047
Instance relations
Types