Congenital immunodeficiency disease

719685004Absent thumb with short stature and immunodeficiency syndrome disorder

703525006Anhidrotic ectodermal dysplasia with immune deficiency disorder

68504005Ataxia-telangiectasia syndrome disorder

4434006Bloom syndrome disorder

387759001Chronic granulomatous disease disorder

111396008Chédiak-Higashi syndrome disorder

766879006Combined immunodeficiency due to OX40 deficiency disorder

1197428008Combined immunodeficiency, enteropathy spectrum disorder

363009005Complement component deficiency disorder

116133005Congenital agammaglobulinaemia disorder

58034007Congenital hypergammaglobulinaemia disorder

363040003Congenital immunodeficiency involving the haematopoietic system disorder

89655007Congenital neutropenia disorder

234146006Hennekam syndrome disorder

37548006Hypopigmentation-immunodeficiency disease disorder

254067002Immuno-osseous dysplasia disorder

766705006Immunodeficiency due to ficolin 3 deficiency disorder

234583001Leucocyte adhesion deficiency - type 2 disorder

763668009Lichtenstein syndrome disorder

703540008Majeed syndrome disorder

721903007Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome disorder

778024005Monocytopenia with susceptibility to infections disorder

312514006Netherton syndrome disorder

773730002Osteopetrosis hypogammaglobulinaemia syndrome disorder

1187623009PGM3-related congenital disorder of glycosylation disorder

60743005Purine-nucleoside phosphorylase deficiency disorder

783099001RIDDLE syndrome disorder

31323000Severe combined immunodeficiency disease disorder

774211005Severe dermatitis, multiple allergies, metabolic wasting syndrome disorder

773702002Sterile multifocal osteomyelitis with periostitis and pustulosis disorder

778023004Syndromic multisystem autoimmune disease due to ITCH deficiency disorder

190995003Thymic aplasia or dysplasia with immunodeficiency disorder

719824001Vici syndrome disorder

36070007Wiskott-Aldrich syndrome disorder

Parents (2)