autosomaal recessieve hereditaire aandoening	hereditair periodiekekoortssyndroom	hereditaire aandoening van immuunsysteem
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OTULIN-gerelateerd auto-inflammatoir syndroom (aandoening)
	OTULIN-gerelateerd auto-inflammatoir syndroom
	syndroom met infantiele periodieke koorts, panniculitis en dermatose ORAS otulipenie
	OTULIN-related autoinflammatory syndrome
	Otulipenia 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.

Id	765435009
Status	Primitive

Associated morphology	inflammatoire morfologie
Finding site	structuur van immuunsysteem
Pathological process	afwijkend immuunproces

Clinical course

Has interpretation	boven referentiebereik
Interprets	lichaamstemperatuur

SNOMED CT to Orphanet simple map

500062

SNOMED CT to ICD-10 extended map

Target	D89.8
Rule	TRUE
Advice	ALWAYS D89.8
Correlation	SNOMED CT source code to target map code correlation not specified