autosomaal recessieve ernstige gecombineerde immunodeficiëntie
T-cel-negatieve-B-cel-positieve 'severe combined immunodeficiency'
||
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 monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.
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