{
"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)"
} ]
} ]
},
"_filename": "ValueSet-covid19-underlying-metabolic-condition-value-set.json",
"package_name": "hl7.fhir.us.covid19library",
"date": "2021-12-08T02:47:19+00:00",
"publisher": "HL7 International - Clinical Information Modeling Initiative",
"jurisdiction": [ {
"coding": [ {
"code": "US",
"system": "urn:iso:std:iso:3166",
"display": "United States of America"
} ]
} ],
"name": "COVID19UnderlyingMetabolicConditionVS",
"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",
"type": null,
"experimental": null,
"resourceType": "ValueSet",
"title": "COVID-19 metabolic underlying condition reference set",
"package_version": "0.14.0",
"status": "active",
"id": "306cd5ba-05ad-4d10-95e2-8b58531bbb3e",
"kind": null,
"url": "http://hl7.org/fhir/us/covid19library/ValueSet/covid19-underlying-metabolic-condition-value-set",
"version": "0.14.0",
"contact": [ {
"name": "HL7 International - Clinical Information Modeling Initiative",
"telecom": [ {
"value": "http://hl7.org/Special/committees/cimi",
"system": "url"
} ]
}, {
"name": "Logica",
"telecom": [ {
"value": "https://www.logicahealth.org/",
"system": "url"
} ]
}, {
"name": "HL7",
"telecom": [ {
"value": "https://www.hl7.org",
"system": "url"
} ]
} ]
}