ValueSet-2.16.840.1.113883.3.464.1003.120.11.1012

Sourceus.nlm.vsac#0.11.0:null (v4.0.1)
resourceTypeValueSet
id2.16.840.1.113883.3.464.1003.120.11.1012
canonicalhttp://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.120.11.1012
version20230208
statusactive
publisherNCQA PHEMUR
nameSevereCombinedImmunodeficiency
titleSevere Combined Immunodeficiency
date2023-02-08T01:02:57-05:00
Usages

This value set contains 47 concepts

Code System Display
   111584000 http://snomed.info/sct Reticular dysgenesis (disorder)
   111587007 http://snomed.info/sct Severe combined immunodeficiency due to absent interleukin-2 receptor (disorder)
   1179284005 http://snomed.info/sct Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder)
   1229940001 http://snomed.info/sct Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder)
   1229941002 http://snomed.info/sct Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency (disorder)
   1229942009 http://snomed.info/sct Severe combined immunodeficiency due to coronin 1A deficiency (disorder)
   190996002 http://snomed.info/sct Severe combined immunodeficiency with reticular dysgenesis (disorder)
   190997006 http://snomed.info/sct Severe combined immunodeficiency with low T- and B-cell numbers (disorder)
   190998001 http://snomed.info/sct Severe combined immunodeficiency with low or normal B-cell numbers (disorder)
   191001007 http://snomed.info/sct Major histocompatibility complex class I deficiency (disorder)
   191002000 http://snomed.info/sct Major histocompatibility complex class II deficiency (disorder)
   22406001 http://snomed.info/sct Severe combined immunodeficiency due to absent lymphoid stem cells (disorder)
   234570002 http://snomed.info/sct Severe combined immunodeficiency with maternofetal engraftment (disorder)
   234571003 http://snomed.info/sct Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder)
   31323000 http://snomed.info/sct Severe combined immunodeficiency disease (disorder)
   3439009 http://snomed.info/sct Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)
   350353007 http://snomed.info/sct De Vaal's syndrome (disorder)
   351287008 http://snomed.info/sct Reticular dysgenesis with congenital aleukocytosis (disorder)
   362993009 http://snomed.info/sct Autosomal recessive severe combined immunodeficiency disease (disorder)
   36980009 http://snomed.info/sct Severe combined immunodeficiency due to absent adenosine deaminase (disorder)
   44940001 http://snomed.info/sct Adenosine deaminase deficiency (disorder)
   45390000 http://snomed.info/sct Severe combined immunodeficiency due to absent interleukin-2 production (disorder)
   49555001 http://snomed.info/sct Severe combined immunodeficiency due to absent T cell receptor (disorder)
   55602000 http://snomed.info/sct Nezelof's syndrome (disorder)
   715982006 http://snomed.info/sct Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder)
   716378008 http://snomed.info/sct Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder)
   716871006 http://snomed.info/sct Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder)
   718107000 http://snomed.info/sct Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder)
   71904008 http://snomed.info/sct Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder)
   720345008 http://snomed.info/sct Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
   720853005 http://snomed.info/sct Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)
   720986005 http://snomed.info/sct Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)
   721977007 http://snomed.info/sct Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)
   722067005 http://snomed.info/sct Severe combined immunodeficiency with hypereosinophilia (disorder)
   724177005 http://snomed.info/sct Ligase 4 syndrome (disorder)
   724361001 http://snomed.info/sct Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)
   725135004 http://snomed.info/sct Combined immunodeficiency due to CD3gamma deficiency (disorder)
   725136003 http://snomed.info/sct Immunodeficiency by defective expression of human leukocyte antigen class 1 (disorder)
   725290000 http://snomed.info/sct Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)
   763623001 http://snomed.info/sct Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
   765145001 http://snomed.info/sct T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder)
   765188009 http://snomed.info/sct Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency (disorder)
   771517009 http://snomed.info/sct Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency (disorder)
   782751003 http://snomed.info/sct Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder)
   783617001 http://snomed.info/sct Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)
   789777007 http://snomed.info/sct Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)
   987840791000119102 http://snomed.info/sct Adenosine deaminase 2 deficiency (disorder)

Produced 08 Sep 2023