autosomaal dominante hereditaire aandoening	hereditair periodiekekoortssyndroom	hereditaire aandoening van immuunsysteem
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NLRP12-geassocieerd hereditair periodiekekoortssyndroom (aandoening)
	NLRP12-geassocieerd hereditair periodiekekoortssyndroom
	FCAS2 'familial cold autoinflammatory syndrome' type 2 familiair koudegeïnduceerd auto-inflammatoir syndroom type 2 NLRP12-geassocieerde periodieke koorts
	NLRP12-associated hereditary periodic fever syndrome
	FCAS2 - familial cold autoinflammatory syndrome type 2 NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome Familial cold autoinflammatory syndrome type 2
	A rare autoinflammatory syndrome with characteristics of episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold. There is evidence the disease is caused by heterozygous mutation in the NLRP12 gene on chromosome 19q13.

Id	783146009
Status	Primitive

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

Clinical course

Has interpretation	boven referentiebereik
Interprets	lichaamstemperatuur

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E85.0
Term	Niet-neuropathische heredofamiliale amyloïdose

SNOMED CT to Orphanet simple map

247868

SNOMED CT to ICD-10 extended map

Target	E85.0
Rule	TRUE
Advice	ALWAYS E85.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified