Combined immunodeficiency disease

Code	`442459007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20090731

719685004Absent thumb with short stature and immunodeficiency syndrome disorder

1222681008Autoimmune haemolytic anaemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome disorder

829973009Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis disorder

1350218008Autosomal dominant combined immunodeficiency due to Aiolos deficiency disorder

1351779004Autosomal dominant combined immunodeficiency due to STAT5b mutation disorder

1354649003Autosomal recessive DNA repair defect due to LIG1 deficiency disorder

1354597009Autosomal recessive DNA repair defect due to POLE2 deficiency disorder

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

1351781002Autosomal recessive combined immunodeficiency due to BCL10 mutation disorder

1351727000Autosomal recessive combined immunodeficiency due to CD28 mutation disorder

1351800009Autosomal recessive combined immunodeficiency due to CHUK mutation disorder

1351652007Autosomal recessive combined immunodeficiency due to COPG1 deficiency disorder

1351236000Autosomal recessive combined immunodeficiency due to ICOS deficiency disorder

1351245004Autosomal recessive combined immunodeficiency due to ICOSLG deficiency disorder

1351802001Autosomal recessive combined immunodeficiency due to ITPKB mutation disorder

1351946008Autosomal recessive combined immunodeficiency due to MAN2B2 mutation disorder

1351341006Autosomal recessive combined immunodeficiency due to MCM10 deficiency disorder

1351804000Autosomal recessive combined immunodeficiency due to PAX1 mutation disorder

1351332001Autosomal recessive combined immunodeficiency due to POLD1 mutation disorder

1351333006Autosomal recessive combined immunodeficiency due to POLD2 mutation disorder

1351780001Autosomal recessive combined immunodeficiency due to REL mutation disorder

1351650004Autosomal recessive combined immunodeficiency due to RELB mutation disorder

1351776006Autosomal recessive combined immunodeficiency due to WIP deficiency disorder

771309000Autosomal recessive lymphoproliferative disease disorder

1179300002BENTA disease disorder

234572005Benign combined immunodeficiency disorder

1351892007Combined immunodeficiency due to CARD11 deficiency disorder

1186712009Combined immunodeficiency due to CARMIL2 deficiency disorder

1186715006Combined immunodeficiency due to CD70 deficiency disorder

717811007Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction disorder

1197205005Combined immunodeficiency due to DOCK8 deficiency disorder

1340041000Combined immunodeficiency due to FCHO1 deficiency disorder

1363572000Combined immunodeficiency due to FOXN1 haploinsufficiency disorder

1179286007Combined immunodeficiency due to GINS1 deficiency disorder

1351801008Combined immunodeficiency due to IKZF2 mutation disorder

1186714005Combined immunodeficiency due to ITK deficiency disorder

1197477000Combined immunodeficiency due to LRBA deficiency disorder

773488000Combined immunodeficiency due to MALT1 deficiency disorder

766879006Combined immunodeficiency due to OX40 deficiency disorder

1336027001Combined immunodeficiency due to RELA haploinsufficiency disorder

771479000Combined immunodeficiency due to STK4 deficiency disorder

1179288008Combined immunodeficiency due to TFRC deficiency disorder

784340000Combined immunodeficiency due to interleukin 21 receptor deficiency disorder

1179285006Combined immunodeficiency due to moesin deficiency disorder

770625006Combined immunodeficiency with faciooculoskeletal anomalies syndrome disorder

783743009Combined immunodeficiency with granulomatosis disorder

1197428008Combined immunodeficiency, enteropathy spectrum disorder

1371048007Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency disorder

1197479002DOCK2 deficiency disorder

1340174002Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome disorder

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

234146006Hennekam syndrome disorder

191009009Hyperimmunoglobulin E syndrome disorder

783248004Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection disorder

783249007Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection disorder

254067002Immuno-osseous dysplasia disorder

724179008Laron syndrome with immunodeficiency disorder

1354861009Lung disease, immunodeficiency, chromosome breakage syndrome disorder

725136003Major histocompatibility complex class I deficiency disorder

191002000Major histocompatibility complex class II deficiency disorder

783142006Pancytopenia due to IKZF1 mutations disorder

1197478005Primary immunodeficiency with multifaceted aberrant lymphoid immunity 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

783099001RIDDLE syndrome disorder

31323000Severe combined immunodeficiency disease disorder

774211005Severe dermatitis, multiple allergies, metabolic wasting syndrome disorder

766983005Susceptibility to respiratory infection associated with CD8alpha chain mutation disorder

782750002T-cell receptor alpha-beta-positive T-cell deficiency disorder

719824001Vici syndrome disorder

1351651000X-linked combined immunodeficiency due to SASH3 deficiency disorder

Combined immunodeficiency disease

Parents (1)

Children (71)