FHIR © HL7.org  |  Server Home  |  XIG Home  |  XIG Stats  |  Server Source  |  FHIR  

FHIR IG Statistics: ValueSet/2.16.840.1.113883.3.464.1003.120.11.1012

Packageus.nlm.vsac
Resource TypeValueSet
Id2.16.840.1.113883.3.464.1003.120.11.1012
FHIR VersionR4
Sourcehttp://fhir.org/packages/us.nlm.vsac/https://vsac.nlm.nih.gov/valueset/2.16.840.1.113883.3.464.1003.120.11.1012/expansion
URLhttp://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.120.11.1012
Version20230208
Statusactive
Date2023-02-08T01:02:57-05:00
NameSevereCombinedImmunodeficiency
TitleSevere Combined Immunodeficiency
Realmus
Authorityhl7
Purpose(Clinical Focus: The purpose of this value set is to represent concepts for a diagnosis of severe combined immunodeficiency including both genetic and other causes.),(Data Element Scope: This value set may use a model element related to Diagnosis.),(Inclusion Criteria: Includes concepts that represent a diagnosis of a severe combined immunodeficiency including genetic conditions and other causes.),(Exclusion Criteria: No exclusions.)

Resources that use this resource

ValueSet
2.16.840.1.113883.3.464.1003.120.12.1007Severe Combined Immunodeficiency

Resources that this resource uses

CodeSystem
sctSNOMED CT (all versions)

Narrative

No narrative content found in resource


Source

{
  "resourceType": "ValueSet",
  "id": "2.16.840.1.113883.3.464.1003.120.11.1012",
  "meta": {
    "versionId": "31",
    "lastUpdated": "2023-12-21T17:43:03.000-05:00",
    "profile": [
      "http://hl7.org/fhir/StructureDefinition/shareablevalueset",
      "http://hl7.org/fhir/us/cqfmeasures/StructureDefinition/computable-valueset-cqfm",
      "http://hl7.org/fhir/us/cqfmeasures/StructureDefinition/publishable-valueset-cqfm"
    ]
  },
  "extension": [
    {
      "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"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/valueset-effectiveDate",
      "valueDate": "2023-02-08"
    }
  ],
  "url": "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.120.11.1012",
  "identifier": [
    {
      "system": "urn:ietf:rfc:3986",
      "value": "urn:oid:2.16.840.1.113883.3.464.1003.120.11.1012"
    }
  ],
  "version": "20230208",
  "name": "SevereCombinedImmunodeficiency",
  "title": "Severe Combined Immunodeficiency",
  "status": "active",
  "date": "2023-02-08T01:02:57-05:00",
  "publisher": "NCQA PHEMUR",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "US"
        }
      ]
    }
  ],
  "purpose": "(Clinical Focus: The purpose of this value set is to represent concepts for a diagnosis of  severe combined immunodeficiency including both genetic and other causes.),(Data Element Scope: This value set may use a model element related to Diagnosis.),(Inclusion Criteria: Includes concepts that represent a diagnosis of a severe combined immunodeficiency including genetic conditions and other causes.),(Exclusion Criteria: No exclusions.)",
  "compose": {
    "include": [
      {
        "system": "http://snomed.info/sct",
        "concept": [
          {
            "code": "111584000",
            "display": "Reticular dysgenesis (disorder)"
          },
          {
            "code": "111587007",
            "display": "Severe combined immunodeficiency due to absent interleukin-2 receptor (disorder)"
          },
          {
            "code": "1179284005",
            "display": "Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder)"
          },
          {
            "code": "1229940001",
            "display": "Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder)"
          },
          {
            "code": "1229941002",
            "display": "Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency (disorder)"
          },
          {
            "code": "1229942009",
            "display": "Severe combined immunodeficiency due to coronin 1A deficiency (disorder)"
          },
          {
            "code": "190993005",
            "display": "Autosomal recessive severe combined immunodeficiency (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": "22406001",
            "display": "Severe combined immunodeficiency due to absent lymphoid stem cells (disorder)"
          },
          {
            "code": "234570002",
            "display": "Severe combined immunodeficiency with maternofetal engraftment (disorder)"
          },
          {
            "code": "234571003",
            "display": "Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder)"
          },
          {
            "code": "31323000",
            "display": "Severe combined immunodeficiency disease (disorder)"
          },
          {
            "code": "3439009",
            "display": "Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)"
          },
          {
            "code": "350353007",
            "display": "De Vaal's syndrome (disorder)"
          },
          {
            "code": "351287008",
            "display": "Reticular dysgenesis with congenital aleukocytosis (disorder)"
          },
          {
            "code": "362993009",
            "display": "Autosomal recessive severe combined immunodeficiency disease (disorder)"
          },
          {
            "code": "36980009",
            "display": "Severe combined immunodeficiency due to absent adenosine deaminase (disorder)"
          },
          {
            "code": "44940001",
            "display": "Adenosine deaminase deficiency (disorder)"
          },
          {
            "code": "45390000",
            "display": "Severe combined immunodeficiency due to absent interleukin-2 production (disorder)"
          },
          {
            "code": "49555001",
            "display": "Severe combined immunodeficiency due to absent T cell receptor (disorder)"
          },
          {
            "code": "55602000",
            "display": "Nezelof's syndrome (disorder)"
          },
          {
            "code": "715982006",
            "display": "Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder)"
          },
          {
            "code": "716378008",
            "display": "Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder)"
          },
          {
            "code": "716871006",
            "display": "Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder)"
          },
          {
            "code": "718107000",
            "display": "Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder)"
          },
          {
            "code": "71904008",
            "display": "Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder)"
          },
          {
            "code": "720345008",
            "display": "Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)"
          },
          {
            "code": "720853005",
            "display": "Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)"
          },
          {
            "code": "720986005",
            "display": "Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)"
          },
          {
            "code": "721977007",
            "display": "Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)"
          },
          {
            "code": "722067005",
            "display": "Severe combined immunodeficiency with hypereosinophilia (disorder)"
          },
          {
            "code": "724177005",
            "display": "Ligase 4 syndrome (disorder)"
          },
          {
            "code": "724361001",
            "display": "Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)"
          },
          {
            "code": "725135004",
            "display": "Combined immunodeficiency due to CD3gamma deficiency (disorder)"
          },
          {
            "code": "725136003",
            "display": "Immunodeficiency by defective expression of human leukocyte antigen class 1 (disorder)"
          },
          {
            "code": "725290000",
            "display": "Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)"
          },
          {
            "code": "763623001",
            "display": "Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)"
          },
          {
            "code": "765145001",
            "display": "T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder)"
          },
          {
            "code": "765188009",
            "display": "Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency (disorder)"
          },
          {
            "code": "771517009",
            "display": "Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency (disorder)"
          },
          {
            "code": "782751003",
            "display": "Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder)"
          },
          {
            "code": "783617001",
            "display": "Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)"
          },
          {
            "code": "789777007",
            "display": "Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)"
          },
          {
            "code": "987840791000119102",
            "display": "Adenosine deaminase 2 deficiency (disorder)"
          }
        ]
      }
    ]
  },
  "expansion": {
    "identifier": "urn:uuid:93d33eba-0931-45db-94ca-a5fb7aca201f",
    "timestamp": "2025-05-23T22:27:35-04:00",
    "total": 44,
    "contains": [
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "111584000",
        "display": "Reticular dysgenesis (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "111587007",
        "display": "Severe combined immunodeficiency due to absent interleukin-2 receptor (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1179284005",
        "display": "Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1229940001",
        "display": "Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1229941002",
        "display": "Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1229942009",
        "display": "Severe combined immunodeficiency due to coronin 1A 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": "22406001",
        "display": "Severe combined immunodeficiency due to absent lymphoid stem cells (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "234570002",
        "display": "Severe combined immunodeficiency with maternofetal engraftment (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "234571003",
        "display": "Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "31323000",
        "display": "Severe combined immunodeficiency disease (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "3439009",
        "display": "Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "350353007",
        "display": "De Vaal's syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "351287008",
        "display": "Reticular dysgenesis with congenital aleukocytosis (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "362993009",
        "display": "Autosomal recessive severe combined immunodeficiency disease (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "36980009",
        "display": "Severe combined immunodeficiency due to absent adenosine deaminase (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "44940001",
        "display": "Adenosine deaminase deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "45390000",
        "display": "Severe combined immunodeficiency due to absent interleukin-2 production (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "49555001",
        "display": "Severe combined immunodeficiency due to absent T cell receptor (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "55602000",
        "display": "Nezelof's syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "715982006",
        "display": "Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "716378008",
        "display": "Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "716871006",
        "display": "Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "718107000",
        "display": "Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "720345008",
        "display": "Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "720853005",
        "display": "Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "720986005",
        "display": "Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "721977007",
        "display": "Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "722067005",
        "display": "Severe combined immunodeficiency with hypereosinophilia (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "724177005",
        "display": "Ligase 4 syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "724361001",
        "display": "Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "725135004",
        "display": "Combined immunodeficiency due to CD3gamma deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "725136003",
        "display": "Immunodeficiency by defective expression of major histocompatibility complex class I (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "725290000",
        "display": "Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "763623001",
        "display": "Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "765145001",
        "display": "T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "765188009",
        "display": "Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "782751003",
        "display": "Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "783617001",
        "display": "Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "789777007",
        "display": "Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "987840791000119102",
        "display": "Adenosine deaminase 2 deficiency (disorder)"
      }
    ]
  }
}