Autosomal recessive SCID (severe combined immunodeficiency disease)

|

Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder)
	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.
	ernstige gecombineerde immunodeficiëntie door DCLRE1C-deficiëntie
	ernstige gecombineerde immuundeficiëntie van Athabaskisch type 'severe combined immunodeficiency' door DCLRE1C-deficiëntie ernstige gecombineerde immunodeficiëntie door artemisdeficiëntie SCID door DCLRE1C-deficiëntie

Id	715982006
Status	Primitive

Occurrence

Finding site

Body system structure

Pathological process

Abnormal immune process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	D81.1
Rule	TRUE
Advice	ALWAYS D81.1
Correlation	SNOMED CT source code to target map code correlation not specified