Hereditary disorder of immune system

Code	`363138005`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

719685004Absent thumb with short stature and immunodeficiency syndrome disorder

722281001Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome disorder

230312006Aicardi Goutieres syndrome disorder

1354646005Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation disorder

1366698006Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB GOF mutation disorder

68504005Ataxia-telangiectasia syndrome disorder

722288007Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome disorder

1222679006Autoimmune interstitial lung disease, arthritis syndrome disorder

702444009Autoimmune lymphoproliferative syndrome disorder

1371097003Autoinflammation with arthritis and dyskeratosis due to NLRP1 deficiency disorder

778004006Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation disorder

829973009Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis disorder

1354420003Autosomal dominant combined variable immunodeficiency due to IRF2BP2 mutation disorder

1354416002Autosomal dominant combined variable immunodeficiency due to NFKB1 mutation disorder

1354480001Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation disorder

1352026003Autosomal dominant combined variable immunodeficiency due to TWEAK mutation disorder

1351648007Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency disorder

1351778007Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect disorder

1351776006Autosomal recessive combined immunodeficiency due to WIP deficiency disorder

1351328007Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency disorder

1354472008Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation disorder

1352023006Autosomal recessive combined variable immunodeficiency due to BAFF receptor deficiency disorder

1354483004Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation disorder

1351960005Autosomal recessive common variable immunodeficiency due to CD20 mutation disorder

1351961009Autosomal recessive common variable immunodeficiency due to CD21 mutation disorder

1351267003Autosomal recessive common variable immunodeficiency due to CD81 deficiency disorder

1354596000Autosomal recessive common variable immunodeficiency due to POU2AF1 mutation disorder

1356782005Autosomal recessive common variable immunodeficiency due to RAC2 deficiency disorder

1342372000Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency disorder

773333003Autosomal systemic lupus erythematosus disorder

1230295000B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome disorder

1336113009CADINS disease disorder

1186720006CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome disorder

766879006Combined immunodeficiency due to OX40 deficiency disorder

1336027001Combined immunodeficiency due to RELA haploinsufficiency disorder

770625006Combined immunodeficiency with faciooculoskeletal anomalies syndrome disorder

23238000Common variable agammaglobulinaemia disorder

771443008Complement component 3 deficiency disorder

363009005Complement component deficiency disorder

1279887007Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome disorder

765327005Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome disorder

773664005Deficiency in anterior pituitary function, variable immunodeficiency syndrome disorder

784339002Deficiency of interleukin 36 receptor antagonist disorder

1340174002Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome disorder

1348303000F12-associated cold autoinflammatory syndrome disorder

771515001Facial dysmorphism, immunodeficiency, livedo, short stature syndrome disorder

39674000Familial C3B inhibitor deficiency syndrome disorder

15123008Familial amyloid nephropathy with urticaria AND deafness disorder

1220590003Familial chilblain lupus erythematosus disorder

238687000Familial cold urticaria disorder

230669004Genetically determined myasthenia disorder

699861000Granulomatous inflammatory arthritis, dermatitis and uveitis, familial disorder

234146006Hennekam syndrome disorder

234619000Hereditary C1 esterase inhibitor deficiency - deficient factor disorder

234620006Hereditary C1 esterase inhibitor deficiency - dysfunctional factor disorder

1187119002Hereditary paediatric Behçet-like disease disorder

414395005Hereditary white blood cell disorder disorder

403834003Hyperimmunoglobulinaemia D with periodic fever disorder

1173999006IL21-related infantile inflammatory bowel disease disorder

771333006Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome disorder

783621008Immunodeficiency with factor I anomaly disorder

1186721005Infantile inflammatory bowel disease with neurological involvement disorder

1336030008Keratitis fugax hereditaria disorder

763668009Lichtenstein syndrome disorder

1354861009Lung disease, immunodeficiency, chromosome breakage syndrome disorder

703540008Majeed syndrome disorder

723384004Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency disorder

234638009Microcephaly, normal intelligence and immunodeficiency disorder

733028000Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome disorder

1264006004NLRC4-related familial cold autoinflammatory syndrome disorder

783146009NLRP12-associated hereditary periodic fever syndrome disorder

702449004Nakajo-Nishimura syndrome disorder

773662009Neonatal inflammatory skin and bowel disease disorder

312514006Netherton syndrome disorder

765435009OTULIN-related autoinflammatory syndrome disorder

773730002Osteopetrosis hypogammaglobulinaemia syndrome disorder

11244009Polyglandular autoimmune syndrome, type 1 disorder

778027003Primary CD59 deficiency disorder

724275005Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency disorder

1354858008Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation disorder

724015007Pyogenic arthritis, pyoderma gangrenosum, acne syndrome disorder

1371052007Recurrent HSV-2 (herpes simplex virus 2) meningitis due to autosomal dominant ATG4A deficiency disorder

783007005Recurrent Neisseria infection due to factor D deficiency disorder

783787000Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations disorder

773404000Roifman syndrome disorder

711164003STING-associated vasculopathy with onset in infancy disorder

723995003Schimke immuno-osseous dysplasia disorder

31323000Severe combined immunodeficiency disease disorder

774211005Severe dermatitis, multiple allergies, metabolic wasting syndrome disorder

254114000Singleton-Merten syndrome disorder

254079002Spondyloenchondrodysplasia disorder

773702002Sterile multifocal osteomyelitis with periostitis and pustulosis disorder

703406006Trichohepatoenteric syndrome disorder

1251449006USP18 deficiency disorder

770687001Vasculitis due to adenosine deaminase 2 deficiency disorder

719824001Vici syndrome disorder

1186725001Warts, immunodeficiency, lymphoedema, anogenital dysplasia syndrome disorder

36070007Wiskott-Aldrich syndrome disorder

65880007X-linked agammaglobulinaemia disorder

234533006X-linked agammaglobulinaemia with growth hormone deficiency disorder

1351642008X-linked common variable immunodeficiency due to SH3KBP1 deficiency disorder

724276006X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome disorder

719827008X-linked immunoneurologic disorder disorder

77121009X-linked lymphoproliferative syndrome disorder

717224002X-linked reticulate pigmentary disorder with systemic manifestation syndrome disorder

Hereditary disorder of immune system

Parents (2)

Children (105)