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Packageus.nlm.vsac
Resource TypeValueSet
IdValueSet-2.16.840.1.113883.3.464.1003.120.11.1001.json
FHIR VersionR4
Sourcehttps://vsac.nlm.nih.gov/valueset/2.16.840.1.113883.3.464.1003.120.11.1001/expansion
URLhttp://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.120.11.1001
Version20240206
Statusactive
Date2024-02-06T01:09:28-05:00
NameDisordersOfTheImmuneSystem
TitleDisorders of the Immune System
Realmus
Authorityhl7
Purpose(Clinical Focus: The purpose of this value set is to represent concepts for a diagnosis of conditions affecting the immune system.),(Data Element Scope: This value set may use a model element related to Diagnosis.),(Inclusion Criteria: Includes concepts that represent a diagnosis of disorders of the immune system including disorders of the immunoglobulins and the complement system.),(Exclusion Criteria: No exclusions.)

Resources that use this resource

ValueSet
2.16.840.1.113883.3.464.1003.120.12.1001Disorders of the Immune System

Resources that this resource uses

CodeSystem
sctSNOMED codes used in this IG

Narrative

No narrative content found in resource


Source1

{
  "resourceType": "ValueSet",
  "id": "2.16.840.1.113883.3.464.1003.120.11.1001",
  "meta": {
    "versionId": "63",
    "lastUpdated": "2024-02-06T01:09:28.000-05:00",
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  },
  "extension": [
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      "url": "http://hl7.org/fhir/StructureDefinition/valueset-author",
      "valueContactDetail": {
        "name": "NCQA PHEMUR Author"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/resource-lastReviewDate",
      "valueDate": "2025-03-10"
    },
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      "valueDate": "2024-02-06"
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  "url": "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.120.11.1001",
  "identifier": [
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  ],
  "version": "20240206",
  "name": "DisordersOfTheImmuneSystem",
  "title": "Disorders of the Immune System",
  "status": "active",
  "date": "2024-02-06T01:09:28-05:00",
  "publisher": "NCQA PHEMUR",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "US"
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  "purpose": "(Clinical Focus: The purpose of this value set is to represent concepts for a diagnosis of conditions affecting the immune system.),(Data Element Scope: This value set may use a model element related to Diagnosis.),(Inclusion Criteria: Includes concepts that represent a diagnosis of disorders of the immune system including disorders of the immunoglobulins and the complement system.),(Exclusion Criteria: No exclusions.)",
  "compose": {
    "include": [
      {
        "system": "http://snomed.info/sct",
        "concept": [
          {
            "code": "1144907001",
            "display": "Late acute graft-versus-host disease (disorder)"
          },
          {
            "code": "1144908006",
            "display": "Late chronic graft-versus-host disease (disorder)"
          },
          {
            "code": "1144963000",
            "display": "Acute on chronic graft-versus-host disease (disorder)"
          },
          {
            "code": "1162263002",
            "display": "Complement component 8 deficiency (disorder)"
          },
          {
            "code": "1177120001",
            "display": "Bronchiolitis obliterans syndrome due to and following allogeneic stem cell transplant (disorder)"
          },
          {
            "code": "1197361002",
            "display": "Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (disorder)"
          },
          {
            "code": "1197362009",
            "display": "Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (disorder)"
          },
          {
            "code": "121121000119106",
            "display": "Acute graft-versus-host reaction following bone marrow transplant (disorder)"
          },
          {
            "code": "121131000119109",
            "display": "Chronic graft versus host disease after transplantation of bone marrow (disorder)"
          },
          {
            "code": "1268379007",
            "display": "Graft versus host disease of intestine (disorder)"
          },
          {
            "code": "1279887007",
            "display": "Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome (disorder)"
          },
          {
            "code": "128631000119109",
            "display": "Chronic graft-versus-host disease following kidney transplant (disorder)"
          },
          {
            "code": "18827005",
            "display": "Complement abnormality (disorder)"
          },
          {
            "code": "190979003",
            "display": "Selective immunoglobulin A deficiency (disorder)"
          },
          {
            "code": "190980000",
            "display": "Selective immunoglobulin M deficiency (disorder)"
          },
          {
            "code": "190981001",
            "display": "Selective immunoglobulin G deficiency (disorder)"
          },
          {
            "code": "190996002",
            "display": "Severe combined immunodeficiency with reticular dysgenesis (disorder)"
          },
          {
            "code": "190997006",
            "display": "Severe combined immunodeficiency with low T- and B-cell numbers (disorder)"
          },
          {
            "code": "190998001",
            "display": "Severe combined immunodeficiency with low or normal B-cell numbers (disorder)"
          },
          {
            "code": "191001007",
            "display": "Major histocompatibility complex class I deficiency (disorder)"
          },
          {
            "code": "191002000",
            "display": "Major histocompatibility complex class II deficiency (disorder)"
          },
          {
            "code": "191011000",
            "display": "Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions (disorder)"
          },
          {
            "code": "191012007",
            "display": "Common variable immunodeficiency with predominant immunoregulatory T-cell disorders (disorder)"
          },
          {
            "code": "191013002",
            "display": "Common variable immunodeficiency with autoantibodies to B- or T-cells (disorder)"
          },
          {
            "code": "191018006",
            "display": "Lymphocyte function antigen-1 defect (disorder)"
          },
          {
            "code": "23238000",
            "display": "Common variable agammaglobulinemia (disorder)"
          },
          {
            "code": "234532001",
            "display": "Immunodeficiency disorder (disorder)"
          },
          {
            "code": "234562007",
            "display": "Anti-protein antibody deficiency (disorder)"
          },
          {
            "code": "234593008",
            "display": "Classical complement pathway abnormality (disorder)"
          },
          {
            "code": "234594002",
            "display": "Complement 1q deficiency (disorder)"
          },
          {
            "code": "234595001",
            "display": "Complement 1q beta chain deficiency (disorder)"
          },
          {
            "code": "234596000",
            "display": "Complement 1q dysfunction (disorder)"
          },
          {
            "code": "234597009",
            "display": "Complement 1r deficiency (disorder)"
          },
          {
            "code": "234598004",
            "display": "Complement 1s deficiency (disorder)"
          },
          {
            "code": "234599007",
            "display": "Complement 2 deficiency (disorder)"
          },
          {
            "code": "234600005",
            "display": "Complement 4 deficiency (disorder)"
          },
          {
            "code": "234601009",
            "display": "Complement 4A deficiency (disorder)"
          },
          {
            "code": "234602002",
            "display": "Complement 4B deficiency (disorder)"
          },
          {
            "code": "234604001",
            "display": "Alternative pathway deficiency (disorder)"
          },
          {
            "code": "234605000",
            "display": "Factor B deficiency (disorder)"
          },
          {
            "code": "234607008",
            "display": "Factor D deficiency (disorder)"
          },
          {
            "code": "234608003",
            "display": "Terminal component deficiency (disorder)"
          },
          {
            "code": "234609006",
            "display": "Complement 5 deficiency (disorder)"
          },
          {
            "code": "234611002",
            "display": "Complement 6 deficiency (disorder)"
          },
          {
            "code": "234612009",
            "display": "Complement 7 deficiency (disorder)"
          },
          {
            "code": "234613004",
            "display": "Combined complement 6 and 7 deficiencies (disorder)"
          },
          {
            "code": "234614005",
            "display": "Complement 8 beta chain deficiency (disorder)"
          },
          {
            "code": "234615006",
            "display": "Complement 8 beta chain dysfunction (disorder)"
          },
          {
            "code": "234616007",
            "display": "Complement 8 alpha-gamma deficiency (disorder)"
          },
          {
            "code": "234617003",
            "display": "Complement 9 deficiency (disorder)"
          },
          {
            "code": "234618008",
            "display": "Complement regulatory factor defect (disorder)"
          },
          {
            "code": "234619000",
            "display": "Hereditary C1 esterase inhibitor deficiency - deficient factor (disorder)"
          },
          {
            "code": "234620006",
            "display": "Hereditary C1 esterase inhibitor deficiency - dysfunctional factor (disorder)"
          },
          {
            "code": "234621005",
            "display": "Factor I deficiency (disorder)"
          },
          {
            "code": "234622003",
            "display": "Factor H deficiency (disorder)"
          },
          {
            "code": "234623008",
            "display": "Complement 4 binding protein deficiency (disorder)"
          },
          {
            "code": "234624002",
            "display": "Decay accelerating factor deficiency (disorder)"
          },
          {
            "code": "234625001",
            "display": "Homologous restriction factor deficiency (disorder)"
          },
          {
            "code": "234626000",
            "display": "Complement 5a inhibitor deficiency (disorder)"
          },
          {
            "code": "234627009",
            "display": "Anaphylotoxin inactivator deficiency (disorder)"
          },
          {
            "code": "234628004",
            "display": "Complement receptor deficiency (disorder)"
          },
          {
            "code": "234629007",
            "display": "Complement receptor 1 deficiency (disorder)"
          },
          {
            "code": "234630002",
            "display": "Complement receptor 3 deficiency (disorder)"
          },
          {
            "code": "234631003",
            "display": "Immunodeficiency with major anomalies (disorder)"
          },
          {
            "code": "234646005",
            "display": "Graft-versus-host disease (disorder)"
          },
          {
            "code": "24419001",
            "display": "Disorder of complement (disorder)"
          },
          {
            "code": "24743004",
            "display": "Complement deficiency disease (disorder)"
          },
          {
            "code": "263661007",
            "display": "Complement 5 dysfunction (disorder)"
          },
          {
            "code": "36070007",
            "display": "Wiskott-Aldrich syndrome (disorder)"
          },
          {
            "code": "39674000",
            "display": "Familial C3B inhibitor deficiency syndrome (disorder)"
          },
          {
            "code": "402355000",
            "display": "Acute graft-versus-host disease (disorder)"
          },
          {
            "code": "402356004",
            "display": "Chronic graft-versus-host disease (disorder)"
          },
          {
            "code": "402357008",
            "display": "Lichenoid chronic graft-versus-host disease (disorder)"
          },
          {
            "code": "402358003",
            "display": "Sclerodermoid chronic graft-versus-host disease (disorder)"
          },
          {
            "code": "402360001",
            "display": "Materno-fetal graft-versus-host disease (disorder)"
          },
          {
            "code": "403835002",
            "display": "X-linked hyper-immunoglobulin M syndrome (disorder)"
          },
          {
            "code": "403836001",
            "display": "Autosomal recessive hyperimmunoglobulin M syndrome (disorder)"
          },
          {
            "code": "403837005",
            "display": "Wiskott-Aldrich autosomal dominant variant syndrome (disorder)"
          },
          {
            "code": "414029004",
            "display": "Disorder of immune function (disorder)"
          },
          {
            "code": "426202004",
            "display": "Immune reconstitution syndrome (disorder)"
          },
          {
            "code": "427167008",
            "display": "Hereditary angioedema with normal C1 esterase inhibitor activity (disorder)"
          },
          {
            "code": "442459007",
            "display": "Combined immunodeficiency disease (disorder)"
          },
          {
            "code": "444547006",
            "display": "Graft versus host disease of skin (disorder)"
          },
          {
            "code": "449187006",
            "display": "Kappa light chain deficiency (disorder)"
          },
          {
            "code": "55602000",
            "display": "Nezelof's syndrome (disorder)"
          },
          {
            "code": "65880007",
            "display": "X-linked agammaglobulinemia (disorder)"
          },
          {
            "code": "702444009",
            "display": "Autoimmune lymphoproliferative syndrome (disorder)"
          },
          {
            "code": "719156006",
            "display": "X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)"
          },
          {
            "code": "720853005",
            "display": "Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)"
          },
          {
            "code": "722067005",
            "display": "Severe combined immunodeficiency with hypereosinophilia (disorder)"
          },
          {
            "code": "724361001",
            "display": "Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)"
          },
          {
            "code": "762618008",
            "display": "Bronchiolitis obliterans syndrome due to and after lung transplantation (disorder)"
          },
          {
            "code": "763623001",
            "display": "Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)"
          },
          {
            "code": "765188009",
            "display": "Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency (disorder)"
          },
          {
            "code": "771078002",
            "display": "Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency (disorder)"
          },
          {
            "code": "771443008",
            "display": "Complement component 3 deficiency (disorder)"
          },
          {
            "code": "778027003",
            "display": "Primary CD59 deficiency (disorder)"
          },
          {
            "code": "783007005",
            "display": "Recurrent Neisseria infection due to factor D deficiency (disorder)"
          },
          {
            "code": "783248004",
            "display": "Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection (disorder)"
          },
          {
            "code": "783249007",
            "display": "Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder)"
          },
          {
            "code": "783617001",
            "display": "Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)"
          },
          {
            "code": "783621008",
            "display": "Immunodeficiency with factor I anomaly (disorder)"
          },
          {
            "code": "789777007",
            "display": "Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)"
          },
          {
            "code": "81166004",
            "display": "Properdin deficiency disease (disorder)"
          },
          {
            "code": "82286005",
            "display": "Hyperimmunoglobulin M syndrome (disorder)"
          },
          {
            "code": "82966003",
            "display": "Hereditary angioedema (disorder)"
          },
          {
            "code": "846606007",
            "display": "Graft versus host disease of liver (disorder)"
          },
          {
            "code": "88714009",
            "display": "Transient hypogammaglobulinemia of infancy (disorder)"
          }
        ]
      }
    ]
  },
  "expansion": {
    "identifier": "urn:uuid:d990cf66-9a4f-4366-8ec9-ca762337b3bf",
    "timestamp": "2025-05-23T22:27:20-04:00",
    "total": 107,
    "contains": [
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1144907001",
        "display": "Late acute graft-versus-host disease (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1144908006",
        "display": "Late chronic graft-versus-host disease (disorder)"
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        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1144963000",
        "display": "Acute on chronic graft-versus-host disease (disorder)"
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      {
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        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1162263002",
        "display": "Complement component 8 deficiency (disorder)"
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        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1177120001",
        "display": "Bronchiolitis obliterans syndrome following allogeneic stem cell transplant (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1197361002",
        "display": "Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1197362009",
        "display": "Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "121121000119106",
        "display": "Acute graft-versus-host reaction following bone marrow transplant (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "121131000119109",
        "display": "Chronic graft versus host disease after transplantation of bone marrow (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1268379007",
        "display": "Graft versus host disease of intestine (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1279887007",
        "display": "Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "128631000119109",
        "display": "Chronic graft-versus-host disease following kidney transplant (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "18827005",
        "display": "Complement abnormality (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "190979003",
        "display": "Selective immunoglobulin A deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "190980000",
        "display": "Selective immunoglobulin M deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "190981001",
        "display": "Selective immunoglobulin G deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "190996002",
        "display": "Severe combined immunodeficiency with reticular dysgenesis (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "190997006",
        "display": "Severe combined immunodeficiency with low T- and B-cell numbers (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "190998001",
        "display": "Severe combined immunodeficiency with low or normal B-cell numbers (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "191002000",
        "display": "Immunodeficiency by defective expression of major histocompatibility complex class II (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "191011000",
        "display": "Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "191012007",
        "display": "Common variable immunodeficiency with predominant immunoregulatory T-cell disorders (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "191013002",
        "display": "Common variable immunodeficiency with autoantibodies to B- or T-cells (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "191018006",
        "display": "Lymphocyte function antigen-1 defect (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "23238000",
        "display": "Common variable agammaglobulinemia (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "234532001",
        "display": "Immunodeficiency disorder (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "234562007",
        "display": "Anti-protein antibody deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "234593008",
        "display": "Classical complement pathway abnormality (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "234594002",
        "display": "Complement 1q deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "234595001",
        "display": "Complement 1q beta chain deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
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