||||
gecombineerde immunodeficiëntie door deficiëntie van 'capping protein regulator and myosin 1 linker 2' (aandoening)
gecombineerde immunodeficiëntie door CARMIL2-deficiëntie
gecombineerde immunodeficiëntie door deficiëntie van 'capping protein regulator and myosin 1 linker 2'
gecombineerde immuundeficiëntie door RLTPR-deficiëntie
Combined immunodeficiency due to CARMIL2 deficiency
Combined immunodeficiency due to RLTPR deficiency
Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency
A rare immune dysregulation disease with immunodeficiency with characteristics of infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal and viral infections with involvement of the skin, lower respiratory tract, gastrointestinal tract, eczema, allergies and inflammatory bowel disease. Epstein-Barr related smooth muscle neoplasms have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.
Id1186712009
StatusPrimitive
Associated morphologylymfoproliferatieve aandoening
Pathological processontregelde gastheerrespons
SNOMED CT to Orphanet simple map542301
SNOMED CT to ICD-10 extended map
TargetD82.3
RuleTRUE
AdviceALWAYS D82.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified