Logica COVID-19 FHIR Profile Library IG
0.13.1 - ci-build
Logica COVID-19 FHIR Profile Library IG
0.13.1 - ci-build
Logica COVID-19 FHIR Profile Library IG - Local Development build (v0.13.1). See the Directory of published versions
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:ValueSet;
fhir:nodeRole fhir:treeRoot;
fhir:Resource.id [ fhir:value "covid19-underlying-metabolic-condition-value-set"];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=267454002\">267454002</a></td><td>Acatalasemia (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=238069004\">238069004</a></td><td>Acyl-coenzyme A oxidase deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=363732003\">363732003</a></td><td>Addison's disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=386584007\">386584007</a></td><td>Adrenal cortical hypofunction (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=237735008\">237735008</a></td><td>Adrenal Cushing's syndrome (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=65389002\">65389002</a></td><td>Adrenoleukodystrophy (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=700463002\">700463002</a></td><td>Alpha-methylacyl-CoA racemase deficiency disorder (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=54954004\">54954004</a></td><td>Aspartylglucosaminuria (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=238068007\">238068007</a></td><td>Bifunctional peroxisomal enzyme deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=128289001\">128289001</a></td><td>Chronic metabolic disorder (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=7573000\">7573000</a></td><td>Classical phenylketonuria (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=35691006\">35691006</a></td><td>Combined deficiency of sialidase AND beta galactosidase (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=237751000\">237751000</a></td><td>Congenital adrenal hyperplasia (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=419097006\">419097006</a></td><td>Danon disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=124302001\">124302001</a></td><td>Deficiency of galactokinase (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=124437004\">124437004</a></td><td>Deficiency of glucose-6-phosphatase (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=124335006\">124335006</a></td><td>Deficiency of phosphoglycerate kinase (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=124675005\">124675005</a></td><td>Deficiency of phosphoglycerate mutase (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=387817006\">387817006</a></td><td>Deficiency of phosphorylase b kinase (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=124329006\">124329006</a></td><td>Deficiency of phosphorylase kinase (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=46635009\">46635009</a></td><td>Diabetes mellitus type 1 (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=44054006\">44054006</a></td><td>Diabetes mellitus type 2 (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=73211009\">73211009</a></td><td>Diabetes mellitus (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=45744005\">45744005</a></td><td>Disorder of mineral metabolism (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=238059005\">238059005</a></td><td>Disorder of peroxisomal function (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=238006008\">238006008</a></td><td>Disorder of purine and pyrimidine metabolism (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=30171000\">30171000</a></td><td>Disorder of adrenal gland (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=73132005\">73132005</a></td><td>Disorder of parathyroid gland (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=399244003\">399244003</a></td><td>Disorder of pituitary gland (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=190680002\">190680002</a></td><td>Disorders of amino acid transport and metabolism (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=16652001\">16652001</a></td><td>Fabry's disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=79935000\">79935000</a></td><td>Farber's lipogranulomatosis (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=717276003\">717276003</a></td><td>Folinic acid responsive seizure syndrome (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=20052008\">20052008</a></td><td>Fructose-1,6-bisphosphate aldolase B deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=28183005\">28183005</a></td><td>Fructose-biphosphatase deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=190745006\">190745006</a></td><td>Galactosemia (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=192782005\">192782005</a></td><td>Galactosylceramide beta-galactosidase deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=190794006\">190794006</a></td><td>Glucosylceramide beta-glucosidase deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=235908005\">235908005</a></td><td>Glycogen storage disease type IX (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=41527003\">41527003</a></td><td>Glycogen storage disease type VIII (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=37666005\">37666005</a></td><td>Glycogen storage disease type X (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=717821004\">717821004</a></td><td>Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=7265005\">7265005</a></td><td>Glycogen storage disease, type I (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=274864009\">274864009</a></td><td>Glycogen storage disease, type II (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=66937008\">66937008</a></td><td>Glycogen storage disease, type III (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=11179002\">11179002</a></td><td>Glycogen storage disease, type IV (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=55912009\">55912009</a></td><td>Glycogen storage disease, type V (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=29291001\">29291001</a></td><td>Glycogen storage disease, type VI (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=89597008\">89597008</a></td><td>Glycogen storage disease, type VII (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=237964009\">237964009</a></td><td>Glycogen synthase deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=61598006\">61598006</a></td><td>Glycogenosis with glucoaminophosphaturia (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=238025006\">238025006</a></td><td>GM1 gangliosidosis (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=353295004\">353295004</a></td><td>Graves' disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=21983002\">21983002</a></td><td>Hashimoto thyroiditis (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=111578003\">111578003</a></td><td>Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=66999008\">66999008</a></td><td>Hyperparathyroidism (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=10649000\">10649000</a></td><td>Hyperpituitarism (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=34486009\">34486009</a></td><td>Hyperthyroidism (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=36976004\">36976004</a></td><td>Hypoparathyroidism (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=74728003\">74728003</a></td><td>Hypopituitarism (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=40930008\">40930008</a></td><td>Hypothyroidism (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=70199000\">70199000</a></td><td>I-cell disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=86095007\">86095007</a></td><td>Inborn error of metabolism (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=238062008\">238062008</a></td><td>Infantile Refsum's disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=18756002\">18756002</a></td><td>Juvenile GM1 gangliosidosis (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=65524005\">65524005</a></td><td>Mannosidosis (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=27718001\">27718001</a></td><td>Maple syrup urine disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=69463008\">69463008</a></td><td>Maroteaux-Lamy syndrome (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=237602007\">237602007</a></td><td>Metabolic syndrome X (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=396338004\">396338004</a></td><td>Metachromatic leucodystrophy (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=725296006\">725296006</a></td><td>Mucolipidosis type IV (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=75610003\">75610003</a></td><td>Mucopolysaccharidosis type I (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=65327002\">65327002</a></td><td>Mucopolysaccharidosis type I-H (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=26745009\">26745009</a></td><td>Mucopolysaccharidosis type I-H/S (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=70737009\">70737009</a></td><td>Mucopolysaccharidosis type II (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=73123008\">73123008</a></td><td>Mucopolysaccharidosis type I-S (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=43916004\">43916004</a></td><td>Mucopolysaccharidosis type VII (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=378007\">378007</a></td><td>Morquio syndrome (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=238061001\">238061001</a></td><td>Neonatal adrenoleucodystrophy (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=783717008\">783717008</a></td><td>Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=5335002\">5335002</a></td><td>Phosphoenolpyruvate carboxykinase deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=25362006\">25362006</a></td><td>Phytanic acid storage disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=65520001\">65520001</a></td><td>Primary hyperoxaluria, type I (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=65764006\">65764006</a></td><td>Pseudo-Hurler polydystrophy (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=734434007\">734434007</a></td><td>Pyridoxine-dependent epilepsy (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=46683007\">46683007</a></td><td>Pyruvate dehydrogenase complex deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=23849003\">23849003</a></td><td>Sandhoff disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=88393000\">88393000</a></td><td>Sanfilippo syndrome (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=38795005\">38795005</a></td><td>Sialidosis (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=58459009\">58459009</a></td><td>Sphingomyelin/cholesterol lipidosis (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=34420000\">34420000</a></td><td>Storage disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=367368009\">367368009</a></td><td>Sulfite oxidase deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=111385000\">111385000</a></td><td>Tay-Sachs disease (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=264580006\">264580006</a></td><td>Thyroid dysfunction (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=8849004\">8849004</a></td><td>Uridine diphosphate glucose-4-epimerase deficiency (disorder)</td></tr><tr><td><a href=\"http://browser.ihtsdotools.org/?perspective=full&conceptId1=88469006\">88469006</a></td><td>Zellweger syndrome (disorder)</td></tr></table></li></ul></div>"
];
fhir:ValueSet.url [ fhir:value "http://fhir.logicahealth.org/covid19/ValueSet/covid19-underlying-metabolic-condition-value-set"];
fhir:ValueSet.version [ fhir:value "0.13.1"];
fhir:ValueSet.name [ fhir:value "COVID19UnderlyingMetabolicConditionVS"];
fhir:ValueSet.title [ fhir:value "COVID-19 metabolic underlying condition reference set"];
fhir:ValueSet.status [ fhir:value "active"];
fhir:ValueSet.date [ fhir:value "2021-08-09T20:08:14+00:00"^^xsd:dateTime];
fhir:ValueSet.publisher [ fhir:value "Logica"];
fhir:ValueSet.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "Logica" ];
fhir:ContactDetail.telecom [
fhir:index 0;
fhir:ContactPoint.system [ fhir:value "url" ];
fhir:ContactPoint.value [ fhir:value "https://www.logicahealth.org/" ] ]
];
fhir:ValueSet.description [ fhir:value "A set of codes that describe underlying metabolic conditions for COVID19"];
fhir:ValueSet.compose [
fhir:ValueSet.compose.include [
fhir:index 0;
fhir:ValueSet.compose.include.system [ fhir:value "http://snomed.info/sct" ];
fhir:ValueSet.compose.include.concept [
fhir:index 0;
fhir:ValueSet.compose.include.concept.code [ fhir:value "267454002" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Acatalasemia (disorder)" ] ], [
fhir:index 1;
fhir:ValueSet.compose.include.concept.code [ fhir:value "238069004" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Acyl-coenzyme A oxidase deficiency (disorder)" ] ], [
fhir:index 2;
fhir:ValueSet.compose.include.concept.code [ fhir:value "363732003" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Addison's disease (disorder)" ] ], [
fhir:index 3;
fhir:ValueSet.compose.include.concept.code [ fhir:value "386584007" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Adrenal cortical hypofunction (disorder)" ] ], [
fhir:index 4;
fhir:ValueSet.compose.include.concept.code [ fhir:value "237735008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Adrenal Cushing's syndrome (disorder)" ] ], [
fhir:index 5;
fhir:ValueSet.compose.include.concept.code [ fhir:value "65389002" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Adrenoleukodystrophy (disorder)" ] ], [
fhir:index 6;
fhir:ValueSet.compose.include.concept.code [ fhir:value "700463002" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Alpha-methylacyl-CoA racemase deficiency disorder (disorder)" ] ], [
fhir:index 7;
fhir:ValueSet.compose.include.concept.code [ fhir:value "54954004" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Aspartylglucosaminuria (disorder)" ] ], [
fhir:index 8;
fhir:ValueSet.compose.include.concept.code [ fhir:value "238068007" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Bifunctional peroxisomal enzyme deficiency (disorder)" ] ], [
fhir:index 9;
fhir:ValueSet.compose.include.concept.code [ fhir:value "128289001" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Chronic metabolic disorder (disorder)" ] ], [
fhir:index 10;
fhir:ValueSet.compose.include.concept.code [ fhir:value "7573000" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Classical phenylketonuria (disorder)" ] ], [
fhir:index 11;
fhir:ValueSet.compose.include.concept.code [ fhir:value "35691006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Combined deficiency of sialidase AND beta galactosidase (disorder)" ] ], [
fhir:index 12;
fhir:ValueSet.compose.include.concept.code [ fhir:value "237751000" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Congenital adrenal hyperplasia (disorder)" ] ], [
fhir:index 13;
fhir:ValueSet.compose.include.concept.code [ fhir:value "419097006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Danon disease (disorder)" ] ], [
fhir:index 14;
fhir:ValueSet.compose.include.concept.code [ fhir:value "124302001" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Deficiency of galactokinase (disorder)" ] ], [
fhir:index 15;
fhir:ValueSet.compose.include.concept.code [ fhir:value "124437004" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Deficiency of glucose-6-phosphatase (disorder)" ] ], [
fhir:index 16;
fhir:ValueSet.compose.include.concept.code [ fhir:value "124335006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Deficiency of phosphoglycerate kinase (disorder)" ] ], [
fhir:index 17;
fhir:ValueSet.compose.include.concept.code [ fhir:value "124675005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Deficiency of phosphoglycerate mutase (disorder)" ] ], [
fhir:index 18;
fhir:ValueSet.compose.include.concept.code [ fhir:value "387817006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Deficiency of phosphorylase b kinase (disorder)" ] ], [
fhir:index 19;
fhir:ValueSet.compose.include.concept.code [ fhir:value "124329006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Deficiency of phosphorylase kinase (disorder)" ] ], [
fhir:index 20;
fhir:ValueSet.compose.include.concept.code [ fhir:value "46635009" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Diabetes mellitus type 1 (disorder)" ] ], [
fhir:index 21;
fhir:ValueSet.compose.include.concept.code [ fhir:value "44054006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Diabetes mellitus type 2 (disorder)" ] ], [
fhir:index 22;
fhir:ValueSet.compose.include.concept.code [ fhir:value "73211009" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Diabetes mellitus (disorder)" ] ], [
fhir:index 23;
fhir:ValueSet.compose.include.concept.code [ fhir:value "45744005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Disorder of mineral metabolism (disorder)" ] ], [
fhir:index 24;
fhir:ValueSet.compose.include.concept.code [ fhir:value "238059005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Disorder of peroxisomal function (disorder)" ] ], [
fhir:index 25;
fhir:ValueSet.compose.include.concept.code [ fhir:value "238006008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Disorder of purine and pyrimidine metabolism (disorder)" ] ], [
fhir:index 26;
fhir:ValueSet.compose.include.concept.code [ fhir:value "30171000" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Disorder of adrenal gland (disorder)" ] ], [
fhir:index 27;
fhir:ValueSet.compose.include.concept.code [ fhir:value "73132005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Disorder of parathyroid gland (disorder)" ] ], [
fhir:index 28;
fhir:ValueSet.compose.include.concept.code [ fhir:value "399244003" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Disorder of pituitary gland (disorder)" ] ], [
fhir:index 29;
fhir:ValueSet.compose.include.concept.code [ fhir:value "190680002" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Disorders of amino acid transport and metabolism (disorder)" ] ], [
fhir:index 30;
fhir:ValueSet.compose.include.concept.code [ fhir:value "16652001" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Fabry's disease (disorder)" ] ], [
fhir:index 31;
fhir:ValueSet.compose.include.concept.code [ fhir:value "79935000" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Farber's lipogranulomatosis (disorder)" ] ], [
fhir:index 32;
fhir:ValueSet.compose.include.concept.code [ fhir:value "717276003" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Folinic acid responsive seizure syndrome (disorder)" ] ], [
fhir:index 33;
fhir:ValueSet.compose.include.concept.code [ fhir:value "20052008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Fructose-1,6-bisphosphate aldolase B deficiency (disorder)" ] ], [
fhir:index 34;
fhir:ValueSet.compose.include.concept.code [ fhir:value "28183005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Fructose-biphosphatase deficiency (disorder)" ] ], [
fhir:index 35;
fhir:ValueSet.compose.include.concept.code [ fhir:value "190745006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Galactosemia (disorder)" ] ], [
fhir:index 36;
fhir:ValueSet.compose.include.concept.code [ fhir:value "192782005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Galactosylceramide beta-galactosidase deficiency (disorder)" ] ], [
fhir:index 37;
fhir:ValueSet.compose.include.concept.code [ fhir:value "190794006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glucosylceramide beta-glucosidase deficiency (disorder)" ] ], [
fhir:index 38;
fhir:ValueSet.compose.include.concept.code [ fhir:value "235908005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease type IX (disorder)" ] ], [
fhir:index 39;
fhir:ValueSet.compose.include.concept.code [ fhir:value "41527003" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease type VIII (disorder)" ] ], [
fhir:index 40;
fhir:ValueSet.compose.include.concept.code [ fhir:value "37666005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease type X (disorder)" ] ], [
fhir:index 41;
fhir:ValueSet.compose.include.concept.code [ fhir:value "717821004" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)" ] ], [
fhir:index 42;
fhir:ValueSet.compose.include.concept.code [ fhir:value "7265005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease, type I (disorder)" ] ], [
fhir:index 43;
fhir:ValueSet.compose.include.concept.code [ fhir:value "274864009" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease, type II (disorder)" ] ], [
fhir:index 44;
fhir:ValueSet.compose.include.concept.code [ fhir:value "66937008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease, type III (disorder)" ] ], [
fhir:index 45;
fhir:ValueSet.compose.include.concept.code [ fhir:value "11179002" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease, type IV (disorder)" ] ], [
fhir:index 46;
fhir:ValueSet.compose.include.concept.code [ fhir:value "55912009" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease, type V (disorder)" ] ], [
fhir:index 47;
fhir:ValueSet.compose.include.concept.code [ fhir:value "29291001" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease, type VI (disorder)" ] ], [
fhir:index 48;
fhir:ValueSet.compose.include.concept.code [ fhir:value "89597008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen storage disease, type VII (disorder)" ] ], [
fhir:index 49;
fhir:ValueSet.compose.include.concept.code [ fhir:value "237964009" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogen synthase deficiency (disorder)" ] ], [
fhir:index 50;
fhir:ValueSet.compose.include.concept.code [ fhir:value "61598006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Glycogenosis with glucoaminophosphaturia (disorder)" ] ], [
fhir:index 51;
fhir:ValueSet.compose.include.concept.code [ fhir:value "238025006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "GM1 gangliosidosis (disorder)" ] ], [
fhir:index 52;
fhir:ValueSet.compose.include.concept.code [ fhir:value "353295004" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Graves' disease (disorder)" ] ], [
fhir:index 53;
fhir:ValueSet.compose.include.concept.code [ fhir:value "21983002" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Hashimoto thyroiditis (disorder)" ] ], [
fhir:index 54;
fhir:ValueSet.compose.include.concept.code [ fhir:value "111578003" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder)" ] ], [
fhir:index 55;
fhir:ValueSet.compose.include.concept.code [ fhir:value "66999008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Hyperparathyroidism (disorder)" ] ], [
fhir:index 56;
fhir:ValueSet.compose.include.concept.code [ fhir:value "10649000" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Hyperpituitarism (disorder)" ] ], [
fhir:index 57;
fhir:ValueSet.compose.include.concept.code [ fhir:value "34486009" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Hyperthyroidism (disorder)" ] ], [
fhir:index 58;
fhir:ValueSet.compose.include.concept.code [ fhir:value "36976004" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Hypoparathyroidism (disorder)" ] ], [
fhir:index 59;
fhir:ValueSet.compose.include.concept.code [ fhir:value "74728003" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Hypopituitarism (disorder)" ] ], [
fhir:index 60;
fhir:ValueSet.compose.include.concept.code [ fhir:value "40930008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Hypothyroidism (disorder)" ] ], [
fhir:index 61;
fhir:ValueSet.compose.include.concept.code [ fhir:value "70199000" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "I-cell disease (disorder)" ] ], [
fhir:index 62;
fhir:ValueSet.compose.include.concept.code [ fhir:value "86095007" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Inborn error of metabolism (disorder)" ] ], [
fhir:index 63;
fhir:ValueSet.compose.include.concept.code [ fhir:value "238062008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Infantile Refsum's disease (disorder)" ] ], [
fhir:index 64;
fhir:ValueSet.compose.include.concept.code [ fhir:value "18756002" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Juvenile GM1 gangliosidosis (disorder)" ] ], [
fhir:index 65;
fhir:ValueSet.compose.include.concept.code [ fhir:value "65524005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mannosidosis (disorder)" ] ], [
fhir:index 66;
fhir:ValueSet.compose.include.concept.code [ fhir:value "27718001" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Maple syrup urine disease (disorder)" ] ], [
fhir:index 67;
fhir:ValueSet.compose.include.concept.code [ fhir:value "69463008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Maroteaux-Lamy syndrome (disorder)" ] ], [
fhir:index 68;
fhir:ValueSet.compose.include.concept.code [ fhir:value "237602007" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Metabolic syndrome X (disorder)" ] ], [
fhir:index 69;
fhir:ValueSet.compose.include.concept.code [ fhir:value "396338004" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Metachromatic leucodystrophy (disorder)" ] ], [
fhir:index 70;
fhir:ValueSet.compose.include.concept.code [ fhir:value "725296006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mucolipidosis type IV (disorder)" ] ], [
fhir:index 71;
fhir:ValueSet.compose.include.concept.code [ fhir:value "75610003" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mucopolysaccharidosis type I (disorder)" ] ], [
fhir:index 72;
fhir:ValueSet.compose.include.concept.code [ fhir:value "65327002" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mucopolysaccharidosis type I-H (disorder)" ] ], [
fhir:index 73;
fhir:ValueSet.compose.include.concept.code [ fhir:value "26745009" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mucopolysaccharidosis type I-H/S (disorder)" ] ], [
fhir:index 74;
fhir:ValueSet.compose.include.concept.code [ fhir:value "70737009" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mucopolysaccharidosis type II (disorder)" ] ], [
fhir:index 75;
fhir:ValueSet.compose.include.concept.code [ fhir:value "73123008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mucopolysaccharidosis type I-S (disorder)" ] ], [
fhir:index 76;
fhir:ValueSet.compose.include.concept.code [ fhir:value "43916004" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Mucopolysaccharidosis type VII (disorder)" ] ], [
fhir:index 77;
fhir:ValueSet.compose.include.concept.code [ fhir:value "378007" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Morquio syndrome (disorder)" ] ], [
fhir:index 78;
fhir:ValueSet.compose.include.concept.code [ fhir:value "238061001" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Neonatal adrenoleucodystrophy (disorder)" ] ], [
fhir:index 79;
fhir:ValueSet.compose.include.concept.code [ fhir:value "783717008" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder)" ] ], [
fhir:index 80;
fhir:ValueSet.compose.include.concept.code [ fhir:value "5335002" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Phosphoenolpyruvate carboxykinase deficiency (disorder)" ] ], [
fhir:index 81;
fhir:ValueSet.compose.include.concept.code [ fhir:value "25362006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Phytanic acid storage disease (disorder)" ] ], [
fhir:index 82;
fhir:ValueSet.compose.include.concept.code [ fhir:value "65520001" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Primary hyperoxaluria, type I (disorder)" ] ], [
fhir:index 83;
fhir:ValueSet.compose.include.concept.code [ fhir:value "65764006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Pseudo-Hurler polydystrophy (disorder)" ] ], [
fhir:index 84;
fhir:ValueSet.compose.include.concept.code [ fhir:value "734434007" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Pyridoxine-dependent epilepsy (disorder)" ] ], [
fhir:index 85;
fhir:ValueSet.compose.include.concept.code [ fhir:value "46683007" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Pyruvate dehydrogenase complex deficiency (disorder)" ] ], [
fhir:index 86;
fhir:ValueSet.compose.include.concept.code [ fhir:value "23849003" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Sandhoff disease (disorder)" ] ], [
fhir:index 87;
fhir:ValueSet.compose.include.concept.code [ fhir:value "88393000" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Sanfilippo syndrome (disorder)" ] ], [
fhir:index 88;
fhir:ValueSet.compose.include.concept.code [ fhir:value "38795005" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Sialidosis (disorder)" ] ], [
fhir:index 89;
fhir:ValueSet.compose.include.concept.code [ fhir:value "58459009" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Sphingomyelin/cholesterol lipidosis (disorder)" ] ], [
fhir:index 90;
fhir:ValueSet.compose.include.concept.code [ fhir:value "34420000" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Storage disease (disorder)" ] ], [
fhir:index 91;
fhir:ValueSet.compose.include.concept.code [ fhir:value "367368009" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Sulfite oxidase deficiency (disorder)" ] ], [
fhir:index 92;
fhir:ValueSet.compose.include.concept.code [ fhir:value "111385000" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Tay-Sachs disease (disorder)" ] ], [
fhir:index 93;
fhir:ValueSet.compose.include.concept.code [ fhir:value "264580006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Thyroid dysfunction (disorder)" ] ], [
fhir:index 94;
fhir:ValueSet.compose.include.concept.code [ fhir:value "8849004" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Uridine diphosphate glucose-4-epimerase deficiency (disorder)" ] ], [
fhir:index 95;
fhir:ValueSet.compose.include.concept.code [ fhir:value "88469006" ];
fhir:ValueSet.compose.include.concept.display [ fhir:value "Zellweger syndrome (disorder)" ] ] ]
].
# - ontology header ------------------------------------------------------------
a owl:Ontology;
owl:imports fhir:fhir.ttl.