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
	A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection.

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 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified