autosomaal recessieve ernstige gecombineerde immunodeficiëntie
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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.
Id1179284005
StatusPrimitive
Finding sitestructuur van lichaamssysteem
Occurrencecongenitaal
Pathological processafwijkend immuunproces
SNOMED CT to Orphanet simple map504523
SNOMED CT to ICD-10 extended map
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified