{
"resourceType": "ValueSet",
"id": "c36be444-44db-4cb2-8aa0-55d57867a4a5",
"meta": {
"versionId": "1",
"lastUpdated": "2023-12-19T16:45:39.953+10:00"
},
"url": "http://csiro.au/mito_multisystem_disease",
"version": "20220812",
"name": "Mito_mtd_multisystem_disease",
"title": "Mito_Mdt_Multisystem_Disease",
"status": "active",
"publisher": "CSIRO",
"description": "To be used in the Mito MTD instrument part C multisystem disease",
"compose": {
"include": [ {
"system": "http://purl.obolibrary.org/obo/hp.owl",
"concept": [ {
"code": "HP:0001903",
"display": "Anemia"
}, {
"code": "HP:0001875",
"display": "Neutropenia"
}, {
"code": "HP:00402089",
"display": "Cyclic neutropenia"
}, {
"code": "HP:0001873",
"display": "Thrombocytopenia"
}, {
"code": "HP:0001924",
"display": "Sideroblastic anemia"
}, {
"code": "HP:0001876",
"display": "Pancytopenia"
}, {
"code": "HP:0002719",
"display": "Recurrent infections"
}, {
"code": "HP:0011024",
"display": "Abnormality of gastrointestinal tract"
}, {
"code": "HP:0030895",
"display": "Abnormal gastrointestinal motility"
}, {
"code": "HP:0004389",
"display": "Intestinal pseudo-obstruction"
}, {
"code": "HP:0002019",
"display": "Constipation"
}, {
"code": "HP:0002024",
"display": "Malabsorption"
}, {
"code": "HP:0004326",
"display": "Cachexia"
}, {
"code": "HP:0002020",
"display": "Gastroesophageal reflux"
}, {
"code": "HP:0002017",
"display": "Nausea and vomiting"
}, {
"code": "HP:0001733",
"display": "Pancreatitis"
}, {
"code": "HP:0001397",
"display": "Hepatic steotosis"
}, {
"code": "HP:0001399",
"display": "Hepatic failure"
}, {
"code": "HP:0006554",
"display": "Acute hepatic failure"
}, {
"code": "HP:0100626",
"display": "Chronic hepatic failure"
}, {
"code": "HP:01006583",
"display": "Fatal liver failure in infancy"
}, {
"code": "HP:0001508",
"display": "Failure to thrive"
}, {
"code": "HP:0001510",
"display": "Growth delay"
}, {
"code": "HP:0001511",
"display": "Intrauterine growth retardation"
}, {
"code": "HP:0004322",
"display": "Short stature"
}, {
"code": "HP:0000819",
"display": "Diabetes mellitus"
}, {
"code": "HP:0000873",
"display": "Diabetes insipidus"
}, {
"code": "HP:0000846",
"display": "Adrenal insufficiency"
}, {
"code": "HP:0000824",
"display": "Growth hormone deficiency"
}, {
"code": "HP:0008209",
"display": "Permature ovarian insufficiency"
}, {
"code": "HP:0000135",
"display": "Hypogonadism"
}, {
"code": "HP:0040075",
"display": "Hypopituitarism"
}, {
"code": "HP:0000829",
"display": "Hypoparathyroidism"
}, {
"code": "HP:0000821",
"display": "Hypothyroidism"
}, {
"code": "HP:0031218",
"display": "Inappropriate antidiuretic hormone secretion"
}, {
"code": "HP:0001638",
"display": "Cardiomyopathy"
}, {
"code": "HP:0001644",
"display": "Dilated cardiomyopathy"
}, {
"code": "HP:0001639",
"display": "Hypertrophic cardiomyopathy"
}, {
"code": "HP:0011664",
"display": "Left ventricular noncompaction cardiomyopathy"
}, {
"code": "HP:0001706",
"display": "Endocardial fibroelastosis"
}, {
"code": "HP:0031546",
"display": "Cardiac conduction abnormality"
}, {
"code": "HP:0002092",
"display": "Pulmonary arterial hypertension"
}, {
"code": "HP:0001947",
"display": "Renal tubular acidosis"
}, {
"code": "HP:0000097",
"display": "Focal segmental glomerulosclerosis"
}, {
"code": "HP:0000822",
"display": "Hypertension"
}, {
"code": "HP:0000100",
"display": "Nephrotic syndrome"
}, {
"code": "HP:0000083",
"display": "Renal insufficiency"
}, {
"code": "HP:0001012",
"display": "Multiple lipomas"
}, {
"code": "HP:0000998",
"display": "Hypertrichosis"
}, {
"code": "HP:0000510",
"display": "Rod-cone dystrophy"
}, {
"code": "HP:0000580",
"display": "Pigmentary retinopathy"
}, {
"code": "HP:0000518",
"display": "Cataract"
}, {
"code": "HP:0007957",
"display": "Corneal opacity"
}, {
"code": "HP:0008527",
"display": "Congenital sensorineural hearing impairment"
}, {
"code": "HP:0011474",
"display": "Childhood onset sensorineural hearing impairment"
}, {
"code": "HP:0008615",
"display": "Adult onset sensorineural hearing impairment"
} ]
} ]
}
}