Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
resourceType | ValueSet |
id | 2.16.840.1.113883.3.464.1003.120.11.1012 |
canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.120.11.1012 |
version | 20230208 |
status | active |
publisher | NCQA PHEMUR |
name | SevereCombinedImmunodeficiency |
title | Severe Combined Immunodeficiency |
date | 2023-02-08T01:02:57-05:00 |
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