MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen - Downloaded Version 2027.0.0-ballot See the Directory of published versions
| Active as of 2026-09-14 |
{
"resourceType" : "ValueSet",
"id" : "mii-vs-seltene-nbs-target-analyte",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset"🔗 ,
"http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset"
]
},
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: ValueSet mii-vs-seltene-nbs-target-analyte</b></p><a name=\"mii-vs-seltene-nbs-target-analyte\"> </a><a name=\"hcmii-vs-seltene-nbs-target-analyte\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-shareablevalueset.html\">CRMI Shareable ValueSet</a>, <a href=\"http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-publishablevalueset.html\">CRMI Publishable ValueSet</a></p></div><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</code></a><span title=\"Version is not explicitly stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"https://loinc.org/29575-8/\">29575-8</a></td><td>Thyrotropin [Units/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/38473-5/\">38473-5</a></td><td>17-Hydroxyprogesterone [Mass/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/75217-0/\">75217-0</a></td><td>Biotinidase [Enzymatic activity/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/54084-9/\">54084-9</a></td><td>Galactose [Mass/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/29573-3/\">29573-3</a></td><td>Phenylalanine [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/47679-6/\">47679-6</a></td><td>Leucine [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/53175-6/\">53175-6</a></td><td>Octanoylcarnitine (C8) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/50125-4/\">50125-4</a></td><td>3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/53191-3/\">53191-3</a></td><td>Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/38481-8/\">38481-8</a></td><td>Carnitine free (C0) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/53199-6/\">53199-6</a></td><td>Palmitoylcarnitine (C16) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/53235-8/\">53235-8</a></td><td>Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS</td></tr><tr><td><a href=\"https://loinc.org/45207-8/\">45207-8</a></td><td>Glutarylcarnitine (C5-DC) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/42920-9/\">42920-9</a></td><td>Isovalerylcarnitine (C5) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/53231-7/\">53231-7</a></td><td>Succinylacetone [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/62320-7/\">62320-7</a></td><td>T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection</td></tr><tr><td><a href=\"https://loinc.org/54081-5/\">54081-5</a></td><td>Hemoglobinopathies newborn screening panel</td></tr><tr><td><a href=\"https://loinc.org/92002-5/\">92002-5</a></td><td>SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection</td></tr><tr><td><a href=\"https://loinc.org/53160-8/\">53160-8</a></td><td>Propionylcarnitine (C3) [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/47700-0/\">47700-0</a></td><td>Methionine [Moles/volume] in DBS</td></tr><tr><td><a href=\"https://loinc.org/48633-2/\">48633-2</a></td><td>Trypsinogen I Free [Mass/volume] in DBS</td></tr></table></li></ul></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
"valueCode" : "shareable"
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
"valueCode" : "publishable"
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
"valueCode" : "computable"
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes",
"code" : "package",
"display" : "Package"
}
]
}
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/resource-approvalDate",
"valueDate" : "2026-09-02"
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/artifact-topic",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl",
"code" : "C4873"
}
]
}
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/artifact-author",
"valueContactDetail" : {
"telecom" : [
{
"system" : "email",
"value" : "thomas.debertshaeuser@charite.de"
}
]
}
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/artifact-editor",
"valueContactDetail" : {
"name" : "Taskforce Core Data Set"
}
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
"valueContactDetail" : {
"name" : "Interoperability Working Group",
"telecom" : [
{
"system" : "url",
"value" : "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
}
]
}
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
"valueContactDetail" : {
"name" : "National Steering Committee",
"telecom" : [
{
"system" : "url",
"value" : "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
}
]
}
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
"valueContactDetail" : {
"name" : "Interoperability Working Group",
"telecom" : [
{
"system" : "url",
"value" : "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
}
]
}
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
"valueContactDetail" : {
"name" : "National Steering Committee",
"telecom" : [
{
"system" : "url",
"value" : "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
}
]
}
}
],
"url" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-nbs-target-analyte",
"version" : "2027.0.0-ballot",
"name" : "MII_VS_Seltene_NBS_TargetAnalyte",
"title" : "MII VS Seltene Erkrankungen NBS Leitanalyten der Zielkrankheiten",
"status" : "active",
"experimental" : false,
"date" : "2026-09-14T22:11:28+00:00",
"publisher" : "Medizininformatik Initiative",
"contact" : [
{
"name" : "Medizininformatik Initiative",
"telecom" : [
{
"system" : "url",
"value" : "https://www.medizininformatik-initiative.de/"
}
]
}
],
"description" : "Leitanalyten der Zielkrankheiten des deutschen Neugeborenenscreenings nach G-BA Kinder-Richtlinie § 17 Abs. 1 (20 Zielkrankheiten) und 23 ff. (Mukoviszidose). Je Zielkrankheit der Analyt, über den sie im Screening erkannt wird.",
"jurisdiction" : [
{
"coding" : [
{
"system" : "urn:iso:std:iso:3166",
"code" : "DE",
"display" : "Germany"
}
]
}
],
"compose" : {
"include" : [
{
"system" : "http://loinc.org",
"concept" : [
{
"code" : "29575-8",
"display" : "Thyrotropin [Units/volume] in DBS"
},
{
"code" : "38473-5",
"display" : "17-Hydroxyprogesterone [Mass/volume] in DBS"
},
{
"code" : "75217-0",
"display" : "Biotinidase [Enzymatic activity/volume] in DBS"
},
{
"code" : "54084-9",
"display" : "Galactose [Mass/volume] in DBS"
},
{
"code" : "29573-3",
"display" : "Phenylalanine [Moles/volume] in DBS"
},
{
"code" : "47679-6",
"display" : "Leucine [Moles/volume] in DBS"
},
{
"code" : "53175-6",
"display" : "Octanoylcarnitine (C8) [Moles/volume] in DBS"
},
{
"code" : "50125-4",
"display" : "3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS"
},
{
"code" : "53191-3",
"display" : "Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS"
},
{
"code" : "38481-8",
"display" : "Carnitine free (C0) [Moles/volume] in DBS"
},
{
"code" : "53199-6",
"display" : "Palmitoylcarnitine (C16) [Moles/volume] in DBS"
},
{
"code" : "53235-8",
"display" : "Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS"
},
{
"code" : "45207-8",
"display" : "Glutarylcarnitine (C5-DC) [Moles/volume] in DBS"
},
{
"code" : "42920-9",
"display" : "Isovalerylcarnitine (C5) [Moles/volume] in DBS"
},
{
"code" : "53231-7",
"display" : "Succinylacetone [Moles/volume] in DBS"
},
{
"code" : "62320-7",
"display" : "T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection"
},
{
"code" : "54081-5",
"display" : "Hemoglobinopathies newborn screening panel"
},
{
"code" : "92002-5",
"display" : "SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection"
},
{
"code" : "53160-8",
"display" : "Propionylcarnitine (C3) [Moles/volume] in DBS"
},
{
"code" : "47700-0",
"display" : "Methionine [Moles/volume] in DBS"
},
{
"code" : "48633-2",
"display" : "Trypsinogen I Free [Mass/volume] in DBS"
}
]
}
]
}
}