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Resource ValueSet/FHIR Server from package hl7.fhir.us.covid19library#current (63 ms)

Package hl7.fhir.us.covid19library
Type ValueSet
Id Id
FHIR Version R4
Source http://hl7.org/fhir/us/covid19library/https://build.fhir.org/ig/HL7/fhir-COVID19Library-ig/ValueSet-covid19-underlying-metabolic-condition-value-set.html
Url http://hl7.org/fhir/us/covid19library/ValueSet/covid19-underlying-metabolic-condition-value-set
Version 1.0.0
Status active
Date 2022-07-25T12:22:40+00:00
Name COVID19UnderlyingMetabolicConditionVS
Title COVID-19 metabolic underlying condition reference set
Experimental False
Realm us
Authority hl7
Description A set of codes that describe underlying metabolic conditions for COVID19
Copyright 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

Resources that use this resource

StructureDefinition
covid19-underlying-condition-observation COVID-19 Underlying Medical Condition observation
underlying-metabolic-medical-condition COVID-19 metabolic underlying condition

Resources that this resource uses

CodeSystem
http://snomed.info/sct SNOMED CT (all versions)
http://snomed.info/sct SNOMED codes used in this IG
http://snomed.info/sct SNOMED CT Canada Immunizations


Narrative

Note: links and images are rebased to the (stated) source

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

Source

{
  "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://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>"
  },
  "url" : "http://hl7.org/fhir/us/covid19library/ValueSet/covid19-underlying-metabolic-condition-value-set",
  "version" : "1.0.0",
  "name" : "COVID19UnderlyingMetabolicConditionVS",
  "title" : "COVID-19 metabolic underlying condition reference set",
  "status" : "active",
  "date" : "2022-07-25T12:22:40+00:00",
  "publisher" : "HL7 International - Clinical Information Modeling Initiative",
  "contact" : [
    {
      "name" : "HL7 International - Clinical Information Modeling Initiative",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://hl7.org/Special/committees/cimi"
        }
      ]
    },
    {
      "name" : "Logica",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.logicahealth.org/"
        }
      ]
    },
    {
      "name" : "HL7",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.hl7.org"
        }
      ]
    }
  ],
  "description" : "A set of codes that describe underlying metabolic conditions for COVID19",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
          "code" : "US",
          "display" : "United States of America"
        }
      ]
    }
  ],
  "copyright" : "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" : "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)"
          }
        ]
      }
    ]
  }
}

XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.