autosomaal recessieve ernstige gecombineerde immunodeficiëntie	T-cel-negatieve-B-cel-positieve 'severe combined immunodeficiency'
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ernstige gecombineerde immunodeficiëntie door deficiëntie van 'linker for activation of T cells' (aandoening)
	ernstige gecombineerde immunodeficiëntie door LAT-deficiëntie
	ernstige gecombineerde immunodeficiëntie door deficiëntie van 'linker for activation of T cells' SCID door LAT-deficiëntie 'severe combined immunodeficiency' door LAT-deficiëntie
	Severe combined immunodeficiency due to LAT deficiency
	Severe combined immunodeficiency due to linker for activation of T cells deficiency Severe combined immunodeficiency due to LAT (linker for activation of T cells) deficiency
	A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.

Id	1179284005
Status	Primitive

Occurrence

Finding site

structuur van lichaamssysteem

Pathological process

afwijkend immuunproces

SNOMED CT to Orphanet simple map

504523

SNOMED CT to ICD-10 extended map

Target	D81.2
Rule	TRUE
Advice	ALWAYS D81.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified