autosomaal recessieve ernstige gecombineerde immunodeficiëntie
T-cel-negatieve-B-cel-positieve 'severe combined immunodeficiency'
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autosomaal recessieve T-cel negatieve B-cel positieve, ernstige gecombineerde immunodeficiëntie door deficiëntie van interleukine-7-receptor (aandoening)
autosomaal recessieve T-cel negatieve B-cel positieve ernstige gecombineerde immunodeficiëntie door deficiëntie van interleukine-7-receptor
autosomaal recessieve T-cel negatieve B-cel positieve SCID door IL-7-receptordeficiëntie
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.
Id1229940001
StatusPrimitive
Occurrencecongenitaal
Finding sitestructuur van lichaamssysteem
Pathological processafwijkend immuunproces
SNOMED CT to Orphanet simple map169154
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