FHIR IG Statistics: ValueSet/2.16.840.1.113883.3.464.1003.120.11.1012
| Package | us.nlm.vsac |
| Resource Type | ValueSet |
| Id | 2.16.840.1.113883.3.464.1003.120.11.1012 |
| FHIR Version | R4 |
| Source | http://fhir.org/packages/us.nlm.vsac/https://vsac.nlm.nih.gov/valueset/2.16.840.1.113883.3.464.1003.120.11.1012/expansion |
| URL | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.120.11.1012 |
| Version | 20230208 |
| Status | active |
| Date | 2023-02-08T01:02:57-05:00 |
| Name | SevereCombinedImmunodeficiency |
| Title | Severe Combined Immunodeficiency |
| Realm | us |
| Authority | hl7 |
| 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
Resources that this resource uses
| CodeSystem |
| sct | SNOMED CT (all versions) |
Narrative
No narrative content found in resource
Source
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"name": "SevereCombinedImmunodeficiency",
"title": "Severe Combined Immunodeficiency",
"status": "active",
"date": "2023-02-08T01:02:57-05:00",
"publisher": "NCQA PHEMUR",
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"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)"
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{
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"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)"
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{
"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)"
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{
"code": "190998001",
"display": "Severe combined immunodeficiency with low or normal B-cell numbers (disorder)"
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{
"code": "191001007",
"display": "Major histocompatibility complex class I deficiency (disorder)"
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{
"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)"
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{
"code": "783617001",
"display": "Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)"
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{
"code": "789777007",
"display": "Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)"
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{
"code": "987840791000119102",
"display": "Adenosine deaminase 2 deficiency (disorder)"
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"identifier": "urn:uuid:93d33eba-0931-45db-94ca-a5fb7aca201f",
"timestamp": "2025-05-23T22:27:35-04:00",
"total": 44,
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"display": "Severe combined immunodeficiency due to coronin 1A deficiency (disorder)"
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"display": "Severe combined immunodeficiency with maternofetal engraftment (disorder)"
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"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
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"display": "Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder)"
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{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "31323000",
"display": "Severe combined immunodeficiency disease (disorder)"
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{
"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)"
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{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
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"version": "http://snomed.info/sct/731000124108/version/20250301",
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"display": "Reticular dysgenesis with congenital aleukocytosis (disorder)"
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"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "362993009",
"display": "Autosomal recessive severe combined immunodeficiency disease (disorder)"
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{
"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)"
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{
"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)"
}
]
}
}
FHIR