COVID-19 FHIR Profile Library IG Informative Version
1.0.0 - Informative
US
COVID-19 FHIR Profile Library IG Informative Version
1.0.0 - Informative
US
This page is part of the Logica COVID-19 FHIR Profile Library IG (v1.0.0: Informative - Informative) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions 
| Active as of 2022-07-25 |
<ValueSet xmlns="http://hl7.org/fhir">
<id value="covid19-underlying-metabolic-condition-value-set"/>
<text>
<status value="generated"/>
<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://snomed.info/id/267454002">267454002</a></td><td>Acatalasemia (disorder)</td></tr><tr><td><a href="http://snomed.info/id/238069004">238069004</a></td><td>Acyl-coenzyme A oxidase deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/363732003">363732003</a></td><td>Addison's disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/386584007">386584007</a></td><td>Adrenal cortical hypofunction (disorder)</td></tr><tr><td><a href="http://snomed.info/id/237735008">237735008</a></td><td>Adrenal Cushing's syndrome (disorder)</td></tr><tr><td><a href="http://snomed.info/id/65389002">65389002</a></td><td>Adrenoleukodystrophy (disorder)</td></tr><tr><td><a href="http://snomed.info/id/700463002">700463002</a></td><td>Alpha-methylacyl-CoA racemase deficiency disorder (disorder)</td></tr><tr><td><a href="http://snomed.info/id/54954004">54954004</a></td><td>Aspartylglucosaminuria (disorder)</td></tr><tr><td><a href="http://snomed.info/id/238068007">238068007</a></td><td>Bifunctional peroxisomal enzyme deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/128289001">128289001</a></td><td>Chronic metabolic disorder (disorder)</td></tr><tr><td><a href="http://snomed.info/id/7573000">7573000</a></td><td>Classical phenylketonuria (disorder)</td></tr><tr><td><a href="http://snomed.info/id/35691006">35691006</a></td><td>Combined deficiency of sialidase AND beta galactosidase (disorder)</td></tr><tr><td><a href="http://snomed.info/id/237751000">237751000</a></td><td>Congenital adrenal hyperplasia (disorder)</td></tr><tr><td><a href="http://snomed.info/id/419097006">419097006</a></td><td>Danon disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/124302001">124302001</a></td><td>Deficiency of galactokinase (disorder)</td></tr><tr><td><a href="http://snomed.info/id/124437004">124437004</a></td><td>Deficiency of glucose-6-phosphatase (disorder)</td></tr><tr><td><a href="http://snomed.info/id/124335006">124335006</a></td><td>Deficiency of phosphoglycerate kinase (disorder)</td></tr><tr><td><a href="http://snomed.info/id/124675005">124675005</a></td><td>Deficiency of phosphoglycerate mutase (disorder)</td></tr><tr><td><a href="http://snomed.info/id/387817006">387817006</a></td><td>Deficiency of phosphorylase b kinase (disorder)</td></tr><tr><td><a href="http://snomed.info/id/124329006">124329006</a></td><td>Deficiency of phosphorylase kinase (disorder)</td></tr><tr><td><a href="http://snomed.info/id/46635009">46635009</a></td><td>Diabetes mellitus type 1 (disorder)</td></tr><tr><td><a href="http://snomed.info/id/44054006">44054006</a></td><td>Diabetes mellitus type 2 (disorder)</td></tr><tr><td><a href="http://snomed.info/id/73211009">73211009</a></td><td>Diabetes mellitus (disorder)</td></tr><tr><td><a href="http://snomed.info/id/45744005">45744005</a></td><td>Disorder of mineral metabolism (disorder)</td></tr><tr><td><a href="http://snomed.info/id/238059005">238059005</a></td><td>Disorder of peroxisomal function (disorder)</td></tr><tr><td><a href="http://snomed.info/id/238006008">238006008</a></td><td>Disorder of purine and pyrimidine metabolism (disorder)</td></tr><tr><td><a href="http://snomed.info/id/30171000">30171000</a></td><td>Disorder of adrenal gland (disorder)</td></tr><tr><td><a href="http://snomed.info/id/73132005">73132005</a></td><td>Disorder of parathyroid gland (disorder)</td></tr><tr><td><a href="http://snomed.info/id/399244003">399244003</a></td><td>Disorder of pituitary gland (disorder)</td></tr><tr><td><a href="http://snomed.info/id/190680002">190680002</a></td><td>Disorders of amino acid transport and metabolism (disorder)</td></tr><tr><td><a href="http://snomed.info/id/16652001">16652001</a></td><td>Fabry's disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/79935000">79935000</a></td><td>Farber's lipogranulomatosis (disorder)</td></tr><tr><td><a href="http://snomed.info/id/717276003">717276003</a></td><td>Folinic acid responsive seizure syndrome (disorder)</td></tr><tr><td><a href="http://snomed.info/id/20052008">20052008</a></td><td>Fructose-1,6-bisphosphate aldolase B deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/28183005">28183005</a></td><td>Fructose-biphosphatase deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/190745006">190745006</a></td><td>Galactosemia (disorder)</td></tr><tr><td><a href="http://snomed.info/id/192782005">192782005</a></td><td>Galactosylceramide beta-galactosidase deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/190794006">190794006</a></td><td>Glucosylceramide beta-glucosidase deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/235908005">235908005</a></td><td>Glycogen storage disease type IX (disorder)</td></tr><tr><td><a href="http://snomed.info/id/41527003">41527003</a></td><td>Glycogen storage disease type VIII (disorder)</td></tr><tr><td><a href="http://snomed.info/id/37666005">37666005</a></td><td>Glycogen storage disease type X (disorder)</td></tr><tr><td><a href="http://snomed.info/id/717821004">717821004</a></td><td>Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/7265005">7265005</a></td><td>Glycogen storage disease, type I (disorder)</td></tr><tr><td><a href="http://snomed.info/id/274864009">274864009</a></td><td>Glycogen storage disease, type II (disorder)</td></tr><tr><td><a href="http://snomed.info/id/66937008">66937008</a></td><td>Glycogen storage disease, type III (disorder)</td></tr><tr><td><a href="http://snomed.info/id/11179002">11179002</a></td><td>Glycogen storage disease, type IV (disorder)</td></tr><tr><td><a href="http://snomed.info/id/55912009">55912009</a></td><td>Glycogen storage disease, type V (disorder)</td></tr><tr><td><a href="http://snomed.info/id/29291001">29291001</a></td><td>Glycogen storage disease, type VI (disorder)</td></tr><tr><td><a href="http://snomed.info/id/89597008">89597008</a></td><td>Glycogen storage disease, type VII (disorder)</td></tr><tr><td><a href="http://snomed.info/id/237964009">237964009</a></td><td>Glycogen synthase deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/61598006">61598006</a></td><td>Glycogenosis with glucoaminophosphaturia (disorder)</td></tr><tr><td><a href="http://snomed.info/id/238025006">238025006</a></td><td>GM1 gangliosidosis (disorder)</td></tr><tr><td><a href="http://snomed.info/id/353295004">353295004</a></td><td>Graves' disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/21983002">21983002</a></td><td>Hashimoto thyroiditis (disorder)</td></tr><tr><td><a href="http://snomed.info/id/111578003">111578003</a></td><td>Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/66999008">66999008</a></td><td>Hyperparathyroidism (disorder)</td></tr><tr><td><a href="http://snomed.info/id/10649000">10649000</a></td><td>Hyperpituitarism (disorder)</td></tr><tr><td><a href="http://snomed.info/id/34486009">34486009</a></td><td>Hyperthyroidism (disorder)</td></tr><tr><td><a href="http://snomed.info/id/36976004">36976004</a></td><td>Hypoparathyroidism (disorder)</td></tr><tr><td><a href="http://snomed.info/id/74728003">74728003</a></td><td>Hypopituitarism (disorder)</td></tr><tr><td><a href="http://snomed.info/id/40930008">40930008</a></td><td>Hypothyroidism (disorder)</td></tr><tr><td><a href="http://snomed.info/id/70199000">70199000</a></td><td>I-cell disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/86095007">86095007</a></td><td>Inborn error of metabolism (disorder)</td></tr><tr><td><a href="http://snomed.info/id/238062008">238062008</a></td><td>Infantile Refsum's disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/18756002">18756002</a></td><td>Juvenile GM1 gangliosidosis (disorder)</td></tr><tr><td><a href="http://snomed.info/id/65524005">65524005</a></td><td>Mannosidosis (disorder)</td></tr><tr><td><a href="http://snomed.info/id/27718001">27718001</a></td><td>Maple syrup urine disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/69463008">69463008</a></td><td>Maroteaux-Lamy syndrome (disorder)</td></tr><tr><td><a href="http://snomed.info/id/237602007">237602007</a></td><td>Metabolic syndrome X (disorder)</td></tr><tr><td><a href="http://snomed.info/id/396338004">396338004</a></td><td>Metachromatic leucodystrophy (disorder)</td></tr><tr><td><a href="http://snomed.info/id/725296006">725296006</a></td><td>Mucolipidosis type IV (disorder)</td></tr><tr><td><a href="http://snomed.info/id/75610003">75610003</a></td><td>Mucopolysaccharidosis type I (disorder)</td></tr><tr><td><a href="http://snomed.info/id/65327002">65327002</a></td><td>Mucopolysaccharidosis type I-H (disorder)</td></tr><tr><td><a href="http://snomed.info/id/26745009">26745009</a></td><td>Mucopolysaccharidosis type I-H/S (disorder)</td></tr><tr><td><a href="http://snomed.info/id/70737009">70737009</a></td><td>Mucopolysaccharidosis type II (disorder)</td></tr><tr><td><a href="http://snomed.info/id/73123008">73123008</a></td><td>Mucopolysaccharidosis type I-S (disorder)</td></tr><tr><td><a href="http://snomed.info/id/43916004">43916004</a></td><td>Mucopolysaccharidosis type VII (disorder)</td></tr><tr><td><a href="http://snomed.info/id/378007">378007</a></td><td>Morquio syndrome (disorder)</td></tr><tr><td><a href="http://snomed.info/id/238061001">238061001</a></td><td>Neonatal adrenoleucodystrophy (disorder)</td></tr><tr><td><a href="http://snomed.info/id/783717008">783717008</a></td><td>Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder)</td></tr><tr><td><a href="http://snomed.info/id/5335002">5335002</a></td><td>Phosphoenolpyruvate carboxykinase deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/25362006">25362006</a></td><td>Phytanic acid storage disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/65520001">65520001</a></td><td>Primary hyperoxaluria, type I (disorder)</td></tr><tr><td><a href="http://snomed.info/id/65764006">65764006</a></td><td>Pseudo-Hurler polydystrophy (disorder)</td></tr><tr><td><a href="http://snomed.info/id/734434007">734434007</a></td><td>Pyridoxine-dependent epilepsy (disorder)</td></tr><tr><td><a href="http://snomed.info/id/46683007">46683007</a></td><td>Pyruvate dehydrogenase complex deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/23849003">23849003</a></td><td>Sandhoff disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/88393000">88393000</a></td><td>Sanfilippo syndrome (disorder)</td></tr><tr><td><a href="http://snomed.info/id/38795005">38795005</a></td><td>Sialidosis (disorder)</td></tr><tr><td><a href="http://snomed.info/id/58459009">58459009</a></td><td>Sphingomyelin/cholesterol lipidosis (disorder)</td></tr><tr><td><a href="http://snomed.info/id/34420000">34420000</a></td><td>Storage disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/367368009">367368009</a></td><td>Sulfite oxidase deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/111385000">111385000</a></td><td>Tay-Sachs disease (disorder)</td></tr><tr><td><a href="http://snomed.info/id/264580006">264580006</a></td><td>Thyroid dysfunction (disorder)</td></tr><tr><td><a href="http://snomed.info/id/8849004">8849004</a></td><td>Uridine diphosphate glucose-4-epimerase deficiency (disorder)</td></tr><tr><td><a href="http://snomed.info/id/88469006">88469006</a></td><td>Zellweger syndrome (disorder)</td></tr></table></li></ul></div>
</text>
<url
value="http://hl7.org/fhir/us/covid19library/ValueSet/covid19-underlying-metabolic-condition-value-set"/>
<version value="1.0.0"/>
<name value="COVID19UnderlyingMetabolicConditionVS"/>
<title value="COVID-19 metabolic underlying condition reference set"/>
<status value="active"/>
<date value="2022-07-25T13:34:17+00:00"/>
<publisher
value="HL7 International - Clinical Information Modeling Initiative"/>
<contact>
<name value="HL7 International - Clinical Information Modeling Initiative"/>
<telecom>
<system value="url"/>
<value value="http://hl7.org/Special/committees/cimi"/>
</telecom>
</contact>
<contact>
<name value="Logica"/>
<telecom>
<system value="url"/>
<value value="https://www.logicahealth.org/"/>
</telecom>
</contact>
<contact>
<name value="HL7"/>
<telecom>
<system value="url"/>
<value value="https://www.hl7.org"/>
</telecom>
</contact>
<description
value="A set of codes that describe underlying metabolic conditions for COVID19"/>
<jurisdiction>
<coding>
<system value="urn:iso:std:iso:3166"/>
<code value="US"/>
<display value="United States of America"/>
</coding>
</jurisdiction>
<copyright
value="This value set includes content from SNOMED CT, which is copyright © 2002+ International Health Terminology Standards Development Organisation (IHTSDO), and distributed by agreement between IHTSDO and HL7. Implementer use of SNOMED CT is not covered by this agreement"/>
<compose>
<include>
<system value="http://snomed.info/sct"/>
<concept>
<code value="267454002"/>
<display value="Acatalasemia (disorder)"/>
</concept>
<concept>
<code value="238069004"/>
<display value="Acyl-coenzyme A oxidase deficiency (disorder)"/>
</concept>
<concept>
<code value="363732003"/>
<display value="Addison's disease (disorder)"/>
</concept>
<concept>
<code value="386584007"/>
<display value="Adrenal cortical hypofunction (disorder)"/>
</concept>
<concept>
<code value="237735008"/>
<display value="Adrenal Cushing's syndrome (disorder)"/>
</concept>
<concept>
<code value="65389002"/>
<display value="Adrenoleukodystrophy (disorder)"/>
</concept>
<concept>
<code value="700463002"/>
<display
value="Alpha-methylacyl-CoA racemase deficiency disorder (disorder)"/>
</concept>
<concept>
<code value="54954004"/>
<display value="Aspartylglucosaminuria (disorder)"/>
</concept>
<concept>
<code value="238068007"/>
<display value="Bifunctional peroxisomal enzyme deficiency (disorder)"/>
</concept>
<concept>
<code value="128289001"/>
<display value="Chronic metabolic disorder (disorder)"/>
</concept>
<concept>
<code value="7573000"/>
<display value="Classical phenylketonuria (disorder)"/>
</concept>
<concept>
<code value="35691006"/>
<display
value="Combined deficiency of sialidase AND beta galactosidase (disorder)"/>
</concept>
<concept>
<code value="237751000"/>
<display value="Congenital adrenal hyperplasia (disorder)"/>
</concept>
<concept>
<code value="419097006"/>
<display value="Danon disease (disorder)"/>
</concept>
<concept>
<code value="124302001"/>
<display value="Deficiency of galactokinase (disorder)"/>
</concept>
<concept>
<code value="124437004"/>
<display value="Deficiency of glucose-6-phosphatase (disorder)"/>
</concept>
<concept>
<code value="124335006"/>
<display value="Deficiency of phosphoglycerate kinase (disorder)"/>
</concept>
<concept>
<code value="124675005"/>
<display value="Deficiency of phosphoglycerate mutase (disorder)"/>
</concept>
<concept>
<code value="387817006"/>
<display value="Deficiency of phosphorylase b kinase (disorder)"/>
</concept>
<concept>
<code value="124329006"/>
<display value="Deficiency of phosphorylase kinase (disorder)"/>
</concept>
<concept>
<code value="46635009"/>
<display value="Diabetes mellitus type 1 (disorder)"/>
</concept>
<concept>
<code value="44054006"/>
<display value="Diabetes mellitus type 2 (disorder)"/>
</concept>
<concept>
<code value="73211009"/>
<display value="Diabetes mellitus (disorder)"/>
</concept>
<concept>
<code value="45744005"/>
<display value="Disorder of mineral metabolism (disorder)"/>
</concept>
<concept>
<code value="238059005"/>
<display value="Disorder of peroxisomal function (disorder)"/>
</concept>
<concept>
<code value="238006008"/>
<display value="Disorder of purine and pyrimidine metabolism (disorder)"/>
</concept>
<concept>
<code value="30171000"/>
<display value="Disorder of adrenal gland (disorder)"/>
</concept>
<concept>
<code value="73132005"/>
<display value="Disorder of parathyroid gland (disorder)"/>
</concept>
<concept>
<code value="399244003"/>
<display value="Disorder of pituitary gland (disorder)"/>
</concept>
<concept>
<code value="190680002"/>
<display
value="Disorders of amino acid transport and metabolism (disorder)"/>
</concept>
<concept>
<code value="16652001"/>
<display value="Fabry's disease (disorder)"/>
</concept>
<concept>
<code value="79935000"/>
<display value="Farber's lipogranulomatosis (disorder)"/>
</concept>
<concept>
<code value="717276003"/>
<display value="Folinic acid responsive seizure syndrome (disorder)"/>
</concept>
<concept>
<code value="20052008"/>
<display
value="Fructose-1,6-bisphosphate aldolase B deficiency (disorder)"/>
</concept>
<concept>
<code value="28183005"/>
<display value="Fructose-biphosphatase deficiency (disorder)"/>
</concept>
<concept>
<code value="190745006"/>
<display value="Galactosemia (disorder)"/>
</concept>
<concept>
<code value="192782005"/>
<display
value="Galactosylceramide beta-galactosidase deficiency (disorder)"/>
</concept>
<concept>
<code value="190794006"/>
<display value="Glucosylceramide beta-glucosidase deficiency (disorder)"/>
</concept>
<concept>
<code value="235908005"/>
<display value="Glycogen storage disease type IX (disorder)"/>
</concept>
<concept>
<code value="41527003"/>
<display value="Glycogen storage disease type VIII (disorder)"/>
</concept>
<concept>
<code value="37666005"/>
<display value="Glycogen storage disease type X (disorder)"/>
</concept>
<concept>
<code value="717821004"/>
<display
value="Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)"/>
</concept>
<concept>
<code value="7265005"/>
<display value="Glycogen storage disease, type I (disorder)"/>
</concept>
<concept>
<code value="274864009"/>
<display value="Glycogen storage disease, type II (disorder)"/>
</concept>
<concept>
<code value="66937008"/>
<display value="Glycogen storage disease, type III (disorder)"/>
</concept>
<concept>
<code value="11179002"/>
<display value="Glycogen storage disease, type IV (disorder)"/>
</concept>
<concept>
<code value="55912009"/>
<display value="Glycogen storage disease, type V (disorder)"/>
</concept>
<concept>
<code value="29291001"/>
<display value="Glycogen storage disease, type VI (disorder)"/>
</concept>
<concept>
<code value="89597008"/>
<display value="Glycogen storage disease, type VII (disorder)"/>
</concept>
<concept>
<code value="237964009"/>
<display value="Glycogen synthase deficiency (disorder)"/>
</concept>
<concept>
<code value="61598006"/>
<display value="Glycogenosis with glucoaminophosphaturia (disorder)"/>
</concept>
<concept>
<code value="238025006"/>
<display value="GM1 gangliosidosis (disorder)"/>
</concept>
<concept>
<code value="353295004"/>
<display value="Graves' disease (disorder)"/>
</concept>
<concept>
<code value="21983002"/>
<display value="Hashimoto thyroiditis (disorder)"/>
</concept>
<concept>
<code value="111578003"/>
<display
value="Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder)"/>
</concept>
<concept>
<code value="66999008"/>
<display value="Hyperparathyroidism (disorder)"/>
</concept>
<concept>
<code value="10649000"/>
<display value="Hyperpituitarism (disorder)"/>
</concept>
<concept>
<code value="34486009"/>
<display value="Hyperthyroidism (disorder)"/>
</concept>
<concept>
<code value="36976004"/>
<display value="Hypoparathyroidism (disorder)"/>
</concept>
<concept>
<code value="74728003"/>
<display value="Hypopituitarism (disorder)"/>
</concept>
<concept>
<code value="40930008"/>
<display value="Hypothyroidism (disorder)"/>
</concept>
<concept>
<code value="70199000"/>
<display value="I-cell disease (disorder)"/>
</concept>
<concept>
<code value="86095007"/>
<display value="Inborn error of metabolism (disorder)"/>
</concept>
<concept>
<code value="238062008"/>
<display value="Infantile Refsum's disease (disorder)"/>
</concept>
<concept>
<code value="18756002"/>
<display value="Juvenile GM1 gangliosidosis (disorder)"/>
</concept>
<concept>
<code value="65524005"/>
<display value="Mannosidosis (disorder)"/>
</concept>
<concept>
<code value="27718001"/>
<display value="Maple syrup urine disease (disorder)"/>
</concept>
<concept>
<code value="69463008"/>
<display value="Maroteaux-Lamy syndrome (disorder)"/>
</concept>
<concept>
<code value="237602007"/>
<display value="Metabolic syndrome X (disorder)"/>
</concept>
<concept>
<code value="396338004"/>
<display value="Metachromatic leucodystrophy (disorder)"/>
</concept>
<concept>
<code value="725296006"/>
<display value="Mucolipidosis type IV (disorder)"/>
</concept>
<concept>
<code value="75610003"/>
<display value="Mucopolysaccharidosis type I (disorder)"/>
</concept>
<concept>
<code value="65327002"/>
<display value="Mucopolysaccharidosis type I-H (disorder)"/>
</concept>
<concept>
<code value="26745009"/>
<display value="Mucopolysaccharidosis type I-H/S (disorder)"/>
</concept>
<concept>
<code value="70737009"/>
<display value="Mucopolysaccharidosis type II (disorder)"/>
</concept>
<concept>
<code value="73123008"/>
<display value="Mucopolysaccharidosis type I-S (disorder)"/>
</concept>
<concept>
<code value="43916004"/>
<display value="Mucopolysaccharidosis type VII (disorder)"/>
</concept>
<concept>
<code value="378007"/>
<display value="Morquio syndrome (disorder)"/>
</concept>
<concept>
<code value="238061001"/>
<display value="Neonatal adrenoleucodystrophy (disorder)"/>
</concept>
<concept>
<code value="783717008"/>
<display
value="Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder)"/>
</concept>
<concept>
<code value="5335002"/>
<display value="Phosphoenolpyruvate carboxykinase deficiency (disorder)"/>
</concept>
<concept>
<code value="25362006"/>
<display value="Phytanic acid storage disease (disorder)"/>
</concept>
<concept>
<code value="65520001"/>
<display value="Primary hyperoxaluria, type I (disorder)"/>
</concept>
<concept>
<code value="65764006"/>
<display value="Pseudo-Hurler polydystrophy (disorder)"/>
</concept>
<concept>
<code value="734434007"/>
<display value="Pyridoxine-dependent epilepsy (disorder)"/>
</concept>
<concept>
<code value="46683007"/>
<display value="Pyruvate dehydrogenase complex deficiency (disorder)"/>
</concept>
<concept>
<code value="23849003"/>
<display value="Sandhoff disease (disorder)"/>
</concept>
<concept>
<code value="88393000"/>
<display value="Sanfilippo syndrome (disorder)"/>
</concept>
<concept>
<code value="38795005"/>
<display value="Sialidosis (disorder)"/>
</concept>
<concept>
<code value="58459009"/>
<display value="Sphingomyelin/cholesterol lipidosis (disorder)"/>
</concept>
<concept>
<code value="34420000"/>
<display value="Storage disease (disorder)"/>
</concept>
<concept>
<code value="367368009"/>
<display value="Sulfite oxidase deficiency (disorder)"/>
</concept>
<concept>
<code value="111385000"/>
<display value="Tay-Sachs disease (disorder)"/>
</concept>
<concept>
<code value="264580006"/>
<display value="Thyroid dysfunction (disorder)"/>
</concept>
<concept>
<code value="8849004"/>
<display
value="Uridine diphosphate glucose-4-epimerase deficiency (disorder)"/>
</concept>
<concept>
<code value="88469006"/>
<display value="Zellweger syndrome (disorder)"/>
</concept>
</include>
</compose>
</ValueSet>
IG © 2021+ HL7 International - Clinical Information Modeling Initiative. Package hl7.fhir.us.covid19library#1.0.0 based on FHIR 4.0.1. Generated 2022-07-25
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