FHIR IG analytics
| Package | us.nlm.vsac |
| Resource Type | ValueSet |
| Id | ValueSet-2.16.840.1.113883.3.117.1.7.1.33.json |
| FHIR Version | R4 |
| Source | https://vsac.nlm.nih.gov/valueset/2.16.840.1.113883.3.117.1.7.1.33/expansion |
| URL | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.117.1.7.1.33 |
| Version | 20240423 |
| Status | active |
| Date | 2024-04-23T01:01:49-04:00 |
| Name | Galactosemia |
| Title | Galactosemia |
| Realm | us |
| Authority | hl7 |
| Purpose | (Clinical Focus: The purpose of this value set is to represent concepts for diagnoses of galactosemia.),(Data Element Scope: This value set may use a model element related to Diagnosis.),(Inclusion Criteria: Includes concepts that identify a diagnosis of galactosemia.),(Exclusion Criteria: No exclusions.) |
Resources that use this resource
Resources that this resource uses
| CodeSystem |
| sct | SNOMED codes used in this IG |
Narrative
No narrative content found in resource
Source1
{
"resourceType": "ValueSet",
"id": "2.16.840.1.113883.3.117.1.7.1.33",
"meta": {
"versionId": "45",
"lastUpdated": "2024-04-23T01:01:49.000-04:00",
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},
"extension": [
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"valueContactDetail": {
"name": "TJC EH Author"
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},
{
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"valueString": "PC-05"
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{
"url": "http://hl7.org/fhir/StructureDefinition/resource-lastReviewDate",
"valueDate": "2025-03-20"
},
{
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"valueDate": "2024-04-23"
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],
"url": "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.117.1.7.1.33",
"identifier": [
{
"system": "urn:ietf:rfc:3986",
"value": "urn:oid:2.16.840.1.113883.3.117.1.7.1.33"
}
],
"version": "20240423",
"name": "Galactosemia",
"title": "Galactosemia",
"status": "active",
"date": "2024-04-23T01:01:49-04:00",
"publisher": "TJC EH Steward",
"jurisdiction": [
{
"coding": [
{
"system": "urn:iso:std:iso:3166",
"code": "US"
}
]
}
],
"purpose": "(Clinical Focus: The purpose of this value set is to represent concepts for diagnoses of galactosemia.),(Data Element Scope: This value set may use a model element related to Diagnosis.),(Inclusion Criteria: Includes concepts that identify a diagnosis of galactosemia.),(Exclusion Criteria: No exclusions.)",
"compose": {
"include": [
{
"system": "http://snomed.info/sct",
"concept": [
{
"code": "1187616008",
"display": "Deficiency of galactose mutarotase (disorder)"
},
{
"code": "124302001",
"display": "Deficiency of galactokinase (disorder)"
},
{
"code": "124354006",
"display": "Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)"
},
{
"code": "190745006",
"display": "Galactosemia (disorder)"
},
{
"code": "237963003",
"display": "Disorder of galactose metabolism (disorder)"
},
{
"code": "297237003",
"display": "Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder)"
},
{
"code": "297238008",
"display": "Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (disorder)"
},
{
"code": "8849004",
"display": "Uridine diphosphate glucose-4-epimerase deficiency (disorder)"
}
]
}
]
},
"expansion": {
"identifier": "urn:uuid:a0aa94c6-cb21-410e-af49-383f2a51b385",
"timestamp": "2025-05-23T21:49:36-04:00",
"total": 8,
"contains": [
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "1187616008",
"display": "Deficiency of galactose mutarotase (disorder)"
},
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "124302001",
"display": "Deficiency of galactokinase (disorder)"
},
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "124354006",
"display": "Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)"
},
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "190745006",
"display": "Galactosemia (disorder)"
},
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "237963003",
"display": "Disorder of galactose metabolism (disorder)"
},
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "297237003",
"display": "Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder)"
},
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "297238008",
"display": "Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (disorder)"
},
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "8849004",
"display": "Uridine diphosphate glucose-4-epimerase deficiency (disorder)"
}
]
}
}