X-gebonden ernstige gecombineerde immunodeficiëntie (aandoening)
X-gebonden ernstige gecombineerde immunodeficiëntie
X-linked severe combined immunodeficiency
X-gebonden ernstige gecombineerde immuundeficiëntie
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency
T-B+ severe combined immunodeficiency due to gamma chain deficiency
SCIDX1 - severe combined immunodeficiency X-linked
A form of severe combined immunodeficiency (SCID) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. The disease manifests during the first months of life with severe and often life threatening viral, bacterial or fungal and failure to thrive. Chronic diarrhea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinemia, and normal or increased B cell count. The disease results from a defect in the IL2RG gene encoding the common gamma chain and transmission is X-linked.
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermGecombineerde immunodeficiëntie, niet gespecificeerd
TermFamilie-anamnese met ziekten van bloed en bloedvormende organen en bepaalde aandoeningen van immuunsysteem
SNOMED CT to Orphanet simple map276
SNOMED CT to ICD-10 extended map
AdviceALWAYS D81.2
CorrelationSNOMED CT source code to target map code correlation not specified