Primary immune deficiency disorder

Code	`58606001`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

711480000Activated PI3K-delta syndrome disorder

703525006Anhidrotic ectodermal dysplasia with immune deficiency disorder

702444009Autoimmune lymphoproliferative syndrome disorder

1370959009Autosomal dominant predisposition to severe viral infection due to TLR3 deficiency disorder

1371051000Autosomal dominant predisposition to severe viral infection due to TRAF3 deficiency disorder

1370960004Autosomal recessive predisposition to severe viral infection due to TLR3 deficiency disorder

1371049004Autosomal recessive predisposition to severe viral infection due to UNC93B1 deficiency disorder

1197366007Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity disorder

818950005Blau syndrome disorder

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

442459007Combined immunodeficiency disease disorder

191010004Common variable immunodeficiency disorder

764946008Constitutional mismatch repair deficiency syndrome disorder

773664005Deficiency in anterior pituitary function, variable immunodeficiency syndrome disorder

784339002Deficiency of interleukin 36 receptor antagonist disorder

24419001Disorder of complement disorder

124950009Disorder of immunoglobulin disorder

1351844007Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to SOCS1 haploinsufficiency disorder

1351853000Familial hyperinflammatory lymphoproliferative immunodeficiency disorder

82286005Hyperimmunoglobulin M syndrome disorder

1173999006IL21-related infantile inflammatory bowel disease disorder

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

1186654001Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome disorder

234632005Immunodeficiency associated with chromosomal abnormality disorder

778028008Immunodeficiency due to CD25 deficiency disorder

234631003Immunodeficiency with major anomalies disorder

234539005Immunoglobulin heavy chain deficiency disorder

234543009Immunoglobulin light chain deficiency disorder

234553005Immunoglobulin-associated molecule deficiency disorder

1186721005Infantile inflammatory bowel disease with neurological involvement disorder

1197476009Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia disorder

1186652002Inflammatory bowel disease, recurrent sinopulmonary infection syndrome disorder

449853003Interleukin-12 deficiency disorder

764858009Isolated agammaglobulinaemia disorder

768560008MDA5 deficiency disorder

703540008Majeed syndrome disorder

703538003Mannose-binding lectin deficiency disorder

1172895006Mendelian susceptibility to mycobacterial disease disorder

721903007Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome disorder

773662009Neonatal inflammatory skin and bowel disease disorder

773646003PLCG2-associated antibody deficiency and immune dysregulation disorder

234573000Phagocytic cell defect disorder

1186719000Predisposition to invasive fungal disease due to CARD9 deficiency disorder

1269234000Predisposition to severe viral infection due to IRF7 deficiency disorder

783245001Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection disorder

234564008Primary immunoglobulin catabolism abnormality disorder

724015007Pyogenic arthritis, pyoderma gangrenosum, acne syndrome disorder

718232007Pyogenic bacterial infection due to MyD88 deficiency disorder

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

234556002Specific antibody deficiency disorder

773702002Sterile multifocal osteomyelitis with periostitis and pustulosis disorder

778045003Susceptibility to viral and mycobacterial infection disorder

778023004Syndromic multisystem autoimmune disease due to ITCH deficiency disorder

770785002T-cell immunodeficiency with epidermodysplasia verruciformis disorder

234584007Tuftsin deficiency disorder

770687001Vasculitis due to adenosine deaminase 2 deficiency disorder

1186725001Warts, immunodeficiency, lymphoedema, anogenital dysplasia syndrome disorder

719827008X-linked immunoneurologic disorder disorder

77121009X-linked lymphoproliferative syndrome disorder

Primary immune deficiency disorder

Synonyms

Parents (1)

Children (59)