Congenital immunodeficiency disease 36138009 SNOMED CT code SNOMED code 36138009 name Congenital immunodeficiency disease status active date introduced 2002-01-31 fully specified name(s) Congenital immunodeficiency disease (disorder) synonyms Congenital immunodeficiency disease attributes - group2 Pathological process Abnormal immune process 769247005 attributes - group1 Occurrence Congenital 255399007 parents children Absent thumb with short stature and immunodeficiency syndrome 719685004 Anhidrotic ectodermal dysplasia with immune deficiency 703525006 Ataxia-telangiectasia syndrome 68504005 Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome 722288007 Bloom syndrome 4434006 Chronic granulomatous disease 387759001 Chédiak-Higashi syndrome 111396008 Combined immunodeficiency disease in Arab foals 69624006 removed: 2014-01-31 Combined immunodeficiency due to OX40 deficiency 766879006 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 Combined immunodeficiency, enteropathy spectrum 1197428008 Complement component deficiency 363009005 Congenital agammaglobulinemia 116133005 Congenital hypergammaglobulinemia 58034007 Congenital immunodeficiency involving the hematopoietic system 363040003 Congenital neutropenia 89655007 Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005 Constitutional mismatch repair deficiency syndrome 764946008 Facial dysmorphism, immunodeficiency, livedo, short stature syndrome 771515001 Hennekam syndrome 234146006 Hypopigmentation-immunodeficiency disease 37548006 Immuno-osseous dysplasia 254067002 Immunodeficiency due to ficolin 3 deficiency 766705006 Leukocyte adhesion deficiency - type 2 234583001 Lichtenstein syndrome 763668009 Majeed syndrome 703540008 Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency 304576008 removed: 2021-07-31 Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome 721903007 Monocytopenia with susceptibility to infections 778024005 Osteopetrosis hypogammaglobulinemia syndrome 773730002 Phosphoglucomutase 3-related congenital disorder of glycosylation 1187623009 Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency 724275005 Purine-nucleoside phosphorylase deficiency 60743005 RIDDLE syndrome 783099001 Severe combined immunodeficiency disease 31323000 Severe dermatitis, multiple allergies, metabolic wasting syndrome 774211005 Sterile multifocal osteomyelitis with periostitis and pustulosis 773702002 Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004 Thymic aplasia or dysplasia with immunodeficiency 190995003 Vici syndrome 719824001 Wiskott-Aldrich syndrome 36070007 X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome 724276006 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 414029004 234532001 36138009 138875005 404684003 64572001 66091009 36138009 ancestors sorted most to least specific
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