Autosomal recessive SCID (severe combined immunodeficiency disease)
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Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder)
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
Finding siteBody system structure
OccurrenceCongenital
Pathological processAbnormal immune process
ICD-10 complex map reference set
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