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
Source view
{
"resourceType" : "ValueSet",
"id" : "covid19-underlying-metabolic-condition-value-set",
"text" : {
"status" : "generated",
"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>"
},
"url" : "http://fhir.logicahealth.org/covid19/ValueSet/covid19-underlying-metabolic-condition-value-set",
"version" : "0.13.1",
"name" : "COVID19UnderlyingMetabolicConditionVS",
"title" : "COVID-19 metabolic underlying condition reference set",
"status" : "active",
"date" : "2021-08-09T20:08:14+00:00",
"publisher" : "Logica",
"contact" : [
{
"name" : "Logica",
"telecom" : [
{
"system" : "url",
"value" : "https://www.logicahealth.org/"
}
]
}
],
"description" : "A set of codes that describe underlying metabolic conditions for COVID19",
"compose" : {
"include" : [
{
"system" : "http://snomed.info/sct",
"concept" : [
{
"code" : "267454002",
"display" : "Acatalasemia (disorder)"
},
{
"code" : "238069004",
"display" : "Acyl-coenzyme A oxidase deficiency (disorder)"
},
{
"code" : "363732003",
"display" : "Addison's disease (disorder)"
},
{
"code" : "386584007",
"display" : "Adrenal cortical hypofunction (disorder)"
},
{
"code" : "237735008",
"display" : "Adrenal Cushing's syndrome (disorder)"
},
{
"code" : "65389002",
"display" : "Adrenoleukodystrophy (disorder)"
},
{
"code" : "700463002",
"display" : "Alpha-methylacyl-CoA racemase deficiency disorder (disorder)"
},
{
"code" : "54954004",
"display" : "Aspartylglucosaminuria (disorder)"
},
{
"code" : "238068007",
"display" : "Bifunctional peroxisomal enzyme deficiency (disorder)"
},
{
"code" : "128289001",
"display" : "Chronic metabolic disorder (disorder)"
},
{
"code" : "7573000",
"display" : "Classical phenylketonuria (disorder)"
},
{
"code" : "35691006",
"display" : "Combined deficiency of sialidase AND beta galactosidase (disorder)"
},
{
"code" : "237751000",
"display" : "Congenital adrenal hyperplasia (disorder)"
},
{
"code" : "419097006",
"display" : "Danon disease (disorder)"
},
{
"code" : "124302001",
"display" : "Deficiency of galactokinase (disorder)"
},
{
"code" : "124437004",
"display" : "Deficiency of glucose-6-phosphatase (disorder)"
},
{
"code" : "124335006",
"display" : "Deficiency of phosphoglycerate kinase (disorder)"
},
{
"code" : "124675005",
"display" : "Deficiency of phosphoglycerate mutase (disorder)"
},
{
"code" : "387817006",
"display" : "Deficiency of phosphorylase b kinase (disorder)"
},
{
"code" : "124329006",
"display" : "Deficiency of phosphorylase kinase (disorder)"
},
{
"code" : "46635009",
"display" : "Diabetes mellitus type 1 (disorder)"
},
{
"code" : "44054006",
"display" : "Diabetes mellitus type 2 (disorder)"
},
{
"code" : "73211009",
"display" : "Diabetes mellitus (disorder)"
},
{
"code" : "45744005",
"display" : "Disorder of mineral metabolism (disorder)"
},
{
"code" : "238059005",
"display" : "Disorder of peroxisomal function (disorder)"
},
{
"code" : "238006008",
"display" : "Disorder of purine and pyrimidine metabolism (disorder)"
},
{
"code" : "30171000",
"display" : "Disorder of adrenal gland (disorder)"
},
{
"code" : "73132005",
"display" : "Disorder of parathyroid gland (disorder)"
},
{
"code" : "399244003",
"display" : "Disorder of pituitary gland (disorder)"
},
{
"code" : "190680002",
"display" : "Disorders of amino acid transport and metabolism (disorder)"
},
{
"code" : "16652001",
"display" : "Fabry's disease (disorder)"
},
{
"code" : "79935000",
"display" : "Farber's lipogranulomatosis (disorder)"
},
{
"code" : "717276003",
"display" : "Folinic acid responsive seizure syndrome (disorder)"
},
{
"code" : "20052008",
"display" : "Fructose-1,6-bisphosphate aldolase B deficiency (disorder)"
},
{
"code" : "28183005",
"display" : "Fructose-biphosphatase deficiency (disorder)"
},
{
"code" : "190745006",
"display" : "Galactosemia (disorder)"
},
{
"code" : "192782005",
"display" : "Galactosylceramide beta-galactosidase deficiency (disorder)"
},
{
"code" : "190794006",
"display" : "Glucosylceramide beta-glucosidase deficiency (disorder)"
},
{
"code" : "235908005",
"display" : "Glycogen storage disease type IX (disorder)"
},
{
"code" : "41527003",
"display" : "Glycogen storage disease type VIII (disorder)"
},
{
"code" : "37666005",
"display" : "Glycogen storage disease type X (disorder)"
},
{
"code" : "717821004",
"display" : "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)"
},
{
"code" : "7265005",
"display" : "Glycogen storage disease, type I (disorder)"
},
{
"code" : "274864009",
"display" : "Glycogen storage disease, type II (disorder)"
},
{
"code" : "66937008",
"display" : "Glycogen storage disease, type III (disorder)"
},
{
"code" : "11179002",
"display" : "Glycogen storage disease, type IV (disorder)"
},
{
"code" : "55912009",
"display" : "Glycogen storage disease, type V (disorder)"
},
{
"code" : "29291001",
"display" : "Glycogen storage disease, type VI (disorder)"
},
{
"code" : "89597008",
"display" : "Glycogen storage disease, type VII (disorder)"
},
{
"code" : "237964009",
"display" : "Glycogen synthase deficiency (disorder)"
},
{
"code" : "61598006",
"display" : "Glycogenosis with glucoaminophosphaturia (disorder)"
},
{
"code" : "238025006",
"display" : "GM1 gangliosidosis (disorder)"
},
{
"code" : "353295004",
"display" : "Graves' disease (disorder)"
},
{
"code" : "21983002",
"display" : "Hashimoto thyroiditis (disorder)"
},
{
"code" : "111578003",
"display" : "Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder)"
},
{
"code" : "66999008",
"display" : "Hyperparathyroidism (disorder)"
},
{
"code" : "10649000",
"display" : "Hyperpituitarism (disorder)"
},
{
"code" : "34486009",
"display" : "Hyperthyroidism (disorder)"
},
{
"code" : "36976004",
"display" : "Hypoparathyroidism (disorder)"
},
{
"code" : "74728003",
"display" : "Hypopituitarism (disorder)"
},
{
"code" : "40930008",
"display" : "Hypothyroidism (disorder)"
},
{
"code" : "70199000",
"display" : "I-cell disease (disorder)"
},
{
"code" : "86095007",
"display" : "Inborn error of metabolism (disorder)"
},
{
"code" : "238062008",
"display" : "Infantile Refsum's disease (disorder)"
},
{
"code" : "18756002",
"display" : "Juvenile GM1 gangliosidosis (disorder)"
},
{
"code" : "65524005",
"display" : "Mannosidosis (disorder)"
},
{
"code" : "27718001",
"display" : "Maple syrup urine disease (disorder)"
},
{
"code" : "69463008",
"display" : "Maroteaux-Lamy syndrome (disorder)"
},
{
"code" : "237602007",
"display" : "Metabolic syndrome X (disorder)"
},
{
"code" : "396338004",
"display" : "Metachromatic leucodystrophy (disorder)"
},
{
"code" : "725296006",
"display" : "Mucolipidosis type IV (disorder)"
},
{
"code" : "75610003",
"display" : "Mucopolysaccharidosis type I (disorder)"
},
{
"code" : "65327002",
"display" : "Mucopolysaccharidosis type I-H (disorder)"
},
{
"code" : "26745009",
"display" : "Mucopolysaccharidosis type I-H/S (disorder)"
},
{
"code" : "70737009",
"display" : "Mucopolysaccharidosis type II (disorder)"
},
{
"code" : "73123008",
"display" : "Mucopolysaccharidosis type I-S (disorder)"
},
{
"code" : "43916004",
"display" : "Mucopolysaccharidosis type VII (disorder)"
},
{
"code" : "378007",
"display" : "Morquio syndrome (disorder)"
},
{
"code" : "238061001",
"display" : "Neonatal adrenoleucodystrophy (disorder)"
},
{
"code" : "783717008",
"display" : "Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder)"
},
{
"code" : "5335002",
"display" : "Phosphoenolpyruvate carboxykinase deficiency (disorder)"
},
{
"code" : "25362006",
"display" : "Phytanic acid storage disease (disorder)"
},
{
"code" : "65520001",
"display" : "Primary hyperoxaluria, type I (disorder)"
},
{
"code" : "65764006",
"display" : "Pseudo-Hurler polydystrophy (disorder)"
},
{
"code" : "734434007",
"display" : "Pyridoxine-dependent epilepsy (disorder)"
},
{
"code" : "46683007",
"display" : "Pyruvate dehydrogenase complex deficiency (disorder)"
},
{
"code" : "23849003",
"display" : "Sandhoff disease (disorder)"
},
{
"code" : "88393000",
"display" : "Sanfilippo syndrome (disorder)"
},
{
"code" : "38795005",
"display" : "Sialidosis (disorder)"
},
{
"code" : "58459009",
"display" : "Sphingomyelin/cholesterol lipidosis (disorder)"
},
{
"code" : "34420000",
"display" : "Storage disease (disorder)"
},
{
"code" : "367368009",
"display" : "Sulfite oxidase deficiency (disorder)"
},
{
"code" : "111385000",
"display" : "Tay-Sachs disease (disorder)"
},
{
"code" : "264580006",
"display" : "Thyroid dysfunction (disorder)"
},
{
"code" : "8849004",
"display" : "Uridine diphosphate glucose-4-epimerase deficiency (disorder)"
},
{
"code" : "88469006",
"display" : "Zellweger syndrome (disorder)"
}
]
}
]
}
}