syndroom van hyperimmunoglobulinemie-D en periodieke koorts (aandoening)
syndroom van hyperimmunoglobulinemie-D en periodieke koorts
Hyperimmunoglobulinemia D with periodic fever
Hyper-IgD periodic fever syndrome
Periodic fever Dutch type
HIDS - hyper-IgD periodic fever syndrome
Hyper-immunoglobulin D periodic fever syndrome
A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance.
Associated morphologyinflammatoire morfologie
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
Clinical courserecidiverend
Has interpretationboven referentiebereik
PALGA thesaurus simple reference set for pathology
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermNiet-neuropathische heredofamiliale amyloïdose
SNOMED CT to Orphanet simple map343
SNOMED CT to ICD-10 extended map
AdviceALWAYS E85.0
CorrelationSNOMED CT source code to target map code correlation not specified