autosomaal dominante hereditaire aandoening	gecombineerde immunodeficiëntie	pancytopenie
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pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1 (aandoening)
	pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1
	pancytopenie door IKZF1-mutaties
	Pancytopenia due to IKZF1 mutations
	Pancytopenia due to IKAROS family zinc finger 1 mutations Combined immunodeficiency due to IKAROS deficiency
	A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

Id	783142006
Status	Primitive

Has interpretation	onder referentiebereik
Interprets	Measurement of total hemoglobin concentration

Has interpretation	onder referentiebereik
Interprets	telling van erytrocyten

Has interpretation	onder referentiebereik
Interprets	Platelet count

Has interpretation	onder referentiebereik
Interprets	telling van leukocyten

Pathological process

afwijkend immuunproces

Has interpretation	afwijkend
Interprets	hemostase

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	D81.8
Term	Overige gespecificeerde gecombineerde immunodeficiënties

SNOMED CT to Orphanet simple map

317473

SNOMED CT to ICD-10 extended map

Target	D81.8
Rule	TRUE
Advice	ALWAYS D81.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified