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ernstige gecombineerde immunodeficiëntie door DCLRE1C-deficiëntie (aandoening)
ernstige gecombineerde immunodeficiëntie door DCLRE1C-deficiëntie
SCID door DCLRE1C-deficiëntie
ernstige gecombineerde immuundeficiëntie van Athabaskisch type
'severe combined immunodeficiency' door DCLRE1C-deficiëntie
ernstige gecombineerde immunodeficiëntie door artemisdeficiëntie
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to artemis deficiency
Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency
Severe combined immunodeficiency Athabascan type
A type of severe combined immunodeficiency disease characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive.
Id715982006
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD81.1
Term'Severe combined immunodeficiency' [SCID] met lage aantallen T- en B-cellen
SNOMED CT to Orphanet simple map275
SNOMED CT to ICD-10 extended map
TargetD81.1
RuleTRUE
AdviceALWAYS D81.1
CorrelationSNOMED CT source code to target map code correlation not specified