OTULIN-gerelateerd auto-inflammatoir syndroom (aandoening)
OTULIN-gerelateerd auto-inflammatoir syndroom
syndroom met infantiele periodieke koorts, panniculitis en dermatose
OTULIN-related autoinflammatory syndrome
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
Infantile-onset periodic fever, panniculitis, dermatosis syndrome
OTULIN (OTU deubiquitinase with linear linkage specificity) related autoinflammatory syndrome
Disease with characteristics of abnormal inflammation throughout the body. The uncontrolled inflammation can damage body tissue and organs, including the gastrointestinal system, joints and skin. Onset is usually within the first few weeks of life with recurring episodes of fever, diarrhea, painful, swollen joints and skin rash. Lipodystrophy is present in some individuals. Caused by mutation in the OTULIN gene, the protein produced from this gene helps control inflammation. Inherited in an autosomal recessive pattern.
Associated morphologyinflammatoire morfologie
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
Clinical courserecidiverend
Has interpretationboven referentiebereik
SNOMED CT to Orphanet simple map500062
SNOMED CT to ICD-10 extended map
AdviceALWAYS D89.8
CorrelationSNOMED CT source code to target map code correlation not specified