Resource ValueSet/FHIR Server from package hl7.fhir.us.covid19library#current (78 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
Resources that this resource uses
Narrative
Note: links and images are rebased to the (stated) source
- Include these codes as defined in
http://snomed.info/sct
Code | Display |
267454002 | Acatalasemia (disorder) |
238069004 | Acyl-coenzyme A oxidase deficiency (disorder) |
363732003 | Addison's disease (disorder) |
386584007 | Adrenal cortical hypofunction (disorder) |
237735008 | Adrenal Cushing's syndrome (disorder) |
65389002 | Adrenoleukodystrophy (disorder) |
700463002 | Alpha-methylacyl-CoA racemase deficiency disorder (disorder) |
54954004 | Aspartylglucosaminuria (disorder) |
238068007 | Bifunctional peroxisomal enzyme deficiency (disorder) |
128289001 | Chronic metabolic disorder (disorder) |
7573000 | Classical phenylketonuria (disorder) |
35691006 | Combined deficiency of sialidase AND beta galactosidase (disorder) |
237751000 | Congenital adrenal hyperplasia (disorder) |
419097006 | Danon disease (disorder) |
124302001 | Deficiency of galactokinase (disorder) |
124437004 | Deficiency of glucose-6-phosphatase (disorder) |
124335006 | Deficiency of phosphoglycerate kinase (disorder) |
124675005 | Deficiency of phosphoglycerate mutase (disorder) |
387817006 | Deficiency of phosphorylase b kinase (disorder) |
124329006 | Deficiency of phosphorylase kinase (disorder) |
46635009 | Diabetes mellitus type 1 (disorder) |
44054006 | Diabetes mellitus type 2 (disorder) |
73211009 | Diabetes mellitus (disorder) |
45744005 | Disorder of mineral metabolism (disorder) |
238059005 | Disorder of peroxisomal function (disorder) |
238006008 | Disorder of purine and pyrimidine metabolism (disorder) |
30171000 | Disorder of adrenal gland (disorder) |
73132005 | Disorder of parathyroid gland (disorder) |
399244003 | Disorder of pituitary gland (disorder) |
190680002 | Disorders of amino acid transport and metabolism (disorder) |
16652001 | Fabry's disease (disorder) |
79935000 | Farber's lipogranulomatosis (disorder) |
717276003 | Folinic acid responsive seizure syndrome (disorder) |
20052008 | Fructose-1,6-bisphosphate aldolase B deficiency (disorder) |
28183005 | Fructose-biphosphatase deficiency (disorder) |
190745006 | Galactosemia (disorder) |
192782005 | Galactosylceramide beta-galactosidase deficiency (disorder) |
190794006 | Glucosylceramide beta-glucosidase deficiency (disorder) |
235908005 | Glycogen storage disease type IX (disorder) |
41527003 | Glycogen storage disease type VIII (disorder) |
37666005 | Glycogen storage disease type X (disorder) |
717821004 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) |
7265005 | Glycogen storage disease, type I (disorder) |
274864009 | Glycogen storage disease, type II (disorder) |
66937008 | Glycogen storage disease, type III (disorder) |
11179002 | Glycogen storage disease, type IV (disorder) |
55912009 | Glycogen storage disease, type V (disorder) |
29291001 | Glycogen storage disease, type VI (disorder) |
89597008 | Glycogen storage disease, type VII (disorder) |
237964009 | Glycogen synthase deficiency (disorder) |
61598006 | Glycogenosis with glucoaminophosphaturia (disorder) |
238025006 | GM1 gangliosidosis (disorder) |
353295004 | Graves' disease (disorder) |
21983002 | Hashimoto thyroiditis (disorder) |
111578003 | Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder) |
66999008 | Hyperparathyroidism (disorder) |
10649000 | Hyperpituitarism (disorder) |
34486009 | Hyperthyroidism (disorder) |
36976004 | Hypoparathyroidism (disorder) |
74728003 | Hypopituitarism (disorder) |
40930008 | Hypothyroidism (disorder) |
70199000 | I-cell disease (disorder) |
86095007 | Inborn error of metabolism (disorder) |
238062008 | Infantile Refsum's disease (disorder) |
18756002 | Juvenile GM1 gangliosidosis (disorder) |
65524005 | Mannosidosis (disorder) |
27718001 | Maple syrup urine disease (disorder) |
69463008 | Maroteaux-Lamy syndrome (disorder) |
237602007 | Metabolic syndrome X (disorder) |
396338004 | Metachromatic leucodystrophy (disorder) |
725296006 | Mucolipidosis type IV (disorder) |
75610003 | Mucopolysaccharidosis type I (disorder) |
65327002 | Mucopolysaccharidosis type I-H (disorder) |
26745009 | Mucopolysaccharidosis type I-H/S (disorder) |
70737009 | Mucopolysaccharidosis type II (disorder) |
73123008 | Mucopolysaccharidosis type I-S (disorder) |
43916004 | Mucopolysaccharidosis type VII (disorder) |
378007 | Morquio syndrome (disorder) |
238061001 | Neonatal adrenoleucodystrophy (disorder) |
783717008 | Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) |
5335002 | Phosphoenolpyruvate carboxykinase deficiency (disorder) |
25362006 | Phytanic acid storage disease (disorder) |
65520001 | Primary hyperoxaluria, type I (disorder) |
65764006 | Pseudo-Hurler polydystrophy (disorder) |
734434007 | Pyridoxine-dependent epilepsy (disorder) |
46683007 | Pyruvate dehydrogenase complex deficiency (disorder) |
23849003 | Sandhoff disease (disorder) |
88393000 | Sanfilippo syndrome (disorder) |
38795005 | Sialidosis (disorder) |
58459009 | Sphingomyelin/cholesterol lipidosis (disorder) |
34420000 | Storage disease (disorder) |
367368009 | Sulfite oxidase deficiency (disorder) |
111385000 | Tay-Sachs disease (disorder) |
264580006 | Thyroid dysfunction (disorder) |
8849004 | Uridine diphosphate glucose-4-epimerase deficiency (disorder) |
88469006 | Zellweger 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.