Combined immunodeficiency disease 442459007 SNOMED CT code SNOMED code 442459007 name Combined immunodeficiency disease status active date introduced 2009-07-31 fully specified name(s) Combined immunodeficiency disease (disorder) synonyms Combined immunodeficiency disease attributes - group1 Pathological process Abnormal immune process 769247005 parents Primary immune deficiency disorder 58606001 children Absent thumb with short stature and immunodeficiency syndrome 719685004 Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome 1222681008 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 829973009 Autosomal recessive lymphoproliferative disease 771309000 Benign combined immunodeficiency 234572005 BENTA disease 1179300002 Combined immunodeficiency due to CARMIL2 deficiency 1186712009 Combined immunodeficiency due to CD70 deficiency 1186715006 Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction 717811007 Combined immunodeficiency due to DOCK8 deficiency 1197205005 Combined immunodeficiency due to GINS1 deficiency 1179286007 Combined immunodeficiency due to interleukin 21 receptor deficiency 784340000 Combined immunodeficiency due to ITK deficiency 1186714005 Combined immunodeficiency due to LRBA deficiency 1197477000 Combined immunodeficiency due to MALT1 deficiency 773488000 Combined immunodeficiency due to moesin deficiency 1179285006 Combined immunodeficiency due to OX40 deficiency 766879006 Combined immunodeficiency due to STK4 deficiency 771479000 Combined immunodeficiency due to TFRC deficiency 1179288008 Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006 Combined immunodeficiency with granulomatosis 783743009 Combined immunodeficiency, enteropathy spectrum 1197428008 DOCK2 deficiency 1197479002 Facial dysmorphism, immunodeficiency, livedo, short stature syndrome 771515001 Hennekam syndrome 234146006 Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection 783248004 Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection 783249007 Immuno-osseous dysplasia 254067002 Laron syndrome with immunodeficiency 724179008 Pancytopenia due to IKZF1 mutations 783142006 Phosphoglucomutase 3-related congenital disorder of glycosylation 1187623009 Primary immunodeficiency with multifaceted aberrant lymphoid immunity 1197478005 Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency 724275005 RIDDLE syndrome 783099001 Severe combined immunodeficiency disease 31323000 Severe dermatitis, multiple allergies, metabolic wasting syndrome 774211005 Susceptibility to respiratory infection associated with CD8alpha chain mutation 766983005 T-cell receptor alpha-beta-positive T-cell deficiency 782750002 Vici syndrome 719824001 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 414029004 234532001 58606001 442459007 ancestors sorted most to least specific
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