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gecombineerde immunodeficiëntie door disfunctie van 'calcium release-activated channels' (aandoening)
gecombineerde immunodeficiëntie door disfunctie van 'calcium release-activated channels'
gecombineerde immuundeficiëntie door disfunctie van 'calcium release-activated channels'
immuundisfunctie met T-celinactivatie door calciuminstroomdefect
gecombineerde immuundeficiëntie door CRAC-disfunctie
Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction
Immune dysfunction with T-cell inactivation due to calcium entry defect
Combined immunodeficiency due to CRAC channel dysfunction
Combined immunodeficiency due to calcium release activated calcium channel dysfunction
A form of combined immunodeficiency characterized by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. All patients present with ectodermal dysplasia that is characterized by hypocalcified amelogenesis imperfecta and leads to the loss of soft dental enamel. In addition, patients present at birth with congenital myopathy, which is characterized by non-progressive generalized muscular dysplasia. Caused by mutations in the ORAI1 and STIM1 genes (12q24 and 11p15.5). Transmission is autosomal recessive.
Id717811007
StatusPrimitive
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD81.8
RuleTRUE
AdviceALWAYS D81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified