{
  "resourceType": "ValueSet",
  "id": "89655189-44db-4eec-b475-94121957183c",
  "meta": {
  "versionId": "1",
  "lastUpdated": "2023-12-19T15:48:49.178+10:00"
  },
  "url": "http://csiro.au/mito_mdt_metabolic_imagining",
  "version": "20220812",
  "name": "Mito_mdt_metabolic_and_imaging",
  "title": "Mito_Mdt_Metabolic_and_Imaging",
  "status": "active",
  "publisher": "CSIRO",
  "description": "For use in the mito mdt data collection part CII - Metabolic and imagining studies",
  "compose": {
  "include": [ {
    "system": "http://purl.obolibrary.org/obo/hp.owl",
    "concept": [ {
    "code": "HP:0002151",
    "display": "Increased serum lactate"
    }, {
    "code": "HP:0032653",
    "display": "Elevated lactate:pyruvate ratio"
    }, {
    "code": "HP:0003348",
    "display": "Hyperalaninemia"
    }, {
    "code": "HP:0002490",
    "display": "Increased CSF lactate"
    }, {
    "code": "HP:0002922",
    "display": "Increased CSF protein"
    }, {
    "code": "HP:0500233",
    "display": "Increased CSF alanine concentration"
    }, {
    "code": "HP:0000816",
    "display": "Abnormality of Krebs cycle metabolism"
    }, {
    "code": "HP:0003219",
    "display": "Ethylmalonic aciduria"
    }, {
    "code": "HP:0033220",
    "display": "2-ethylhydracyclic aciduria"
    }, {
    "code": "HP:0003535",
    "display": "3-Methylglutaconic aciduria"
    }, {
    "code": "HP:0002401",
    "display": "Stroke-like episode"
    }, {
    "code": "HP:0012751",
    "display": "Abnormal basal ganglia MRI signal intensity"
    }, {
    "code": "HP:0012747",
    "display": "Abnormal brainstem MRI signal intensity"
    }, {
    "code": "HP:0007042",
    "display": "Focal white matter lesions"
    }, {
    "code": "HP:0002352",
    "display": "Leukoencephalopathy"
    }, {
    "code": "HP:0002500",
    "display": "Abnormal cerebral white matter morphology"
    }, {
    "code": "HP:0012501",
    "display": "Abnormality of the brainstem white matter"
    }, {
    "code": "HP:0002453",
    "display": "Abnormal globus pallidus morphology"
    }, {
    "code": "HP:0002418",
    "display": "Abnormal midbrain morphology"
    }, {
    "code": "HP:0002339",
    "display": "Abnormal caudate nucleus morphology"
    }, {
    "code": "HP:0002135",
    "display": "Basal ganglia calcification"
    }, {
    "code": "HP:0012128",
    "display": "Basal ganglia necrosis"
    }, {
    "code": "HP:0007370",
    "display": "Aplasia/Hypoplasia or the corpus callosum"
    }, {
    "code": "HP:0012707",
    "display": "Elevated brain lactate level by MRS"
    }, {
    "code": "OMIM:611105",
    "display": "Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation"
    }, {
    "code": "OMIM:614924",
    "display": "Combined Oxidative Phosphorylation Deficiency 12"
    } ]
  } ]
  }
}