Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024
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Id http://www.orpha.net/ORDO/Orphanet_342
http://www.orpha.net/ORDO/Orphanet_342
Preferred Name

Familial Mediterranean fever
Definitions
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.
Synonyms
Benign paroxysmal peritonitis
Benign recurrent polyserositis
Familial paroxysmal polyserositis
Periodic disease
FMF
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition_citation

Orphanet
definition

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.
label
Familial Mediterranean fever
prefLabel
Familial Mediterranean fever
hasDbXref
ICD-10:E85.0
OMIM:249100
OMIM:134610
UMLS:C0031069
ICD-11:4A60.0
MeSH:D010505
MedDRA:10016207
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notation
ORPHA:342
alternative_term
Benign paroxysmal peritonitis
Benign recurrent polyserositis
Familial paroxysmal polyserositis
Periodic disease
FMF
present_in
Specific population AND has_annual_incidence_average_value : 14.0 AND has_annual_incidence_range : 1-5 / 10 000
Armenia AND has_point_prevalence_average_value : 200.0 AND has_point_prevalence_range : >1 / 1000
Sweden AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000
Japan AND has_point_prevalence_average_value : 0.23 AND has_point_prevalence_range : 1-9 / 1 000 000
Turkey AND has_point_prevalence_average_value : 175.0 AND has_point_prevalence_range : >1 / 1000
Europe AND has_point_prevalence_range : 1-5 / 10 000
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part_of
prefixIRI
ORDO:Orphanet_342
expertlink
subClassOf
type
has_inheritance
Autosomal recessive
Autosomal dominant
has_age_of_onset
Adolescent
Adult
Childhood
Infancy
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