{
  "resourceType": "ValueSet",
  "id": "0a644efe-1afd-4d3d-81fb-7c1145666769",
  "meta": {
  "versionId": "1",
  "lastUpdated": "2023-12-19T16:28:08.086+10:00"
  },
  "url": "http://csiro.au/mito_cns_presentation",
  "version": "20220812",
  "name": "Mito_mdt_cns_presentation",
  "title": "Mito_Mdt_Cns_Presentation",
  "status": "active",
  "publisher": "CSIRO",
  "description": "Value set for use in the Mito MTD forms part B CNS presentation",
  "compose": {
  "include": [ {
    "system": "http://purl.obolibrary.org/obo/hp.owl",
    "concept": [ {
    "code": "HP:0001263",
    "display": "Global developmental delay"
    }, {
    "code": "HP:0012736",
    "display": "Profound global developmental delay"
    }, {
    "code": "HP:0011344",
    "display": "Severe global developmental delay"
    }, {
    "code": "HP:0011343",
    "display": "Moderate global developmental delay"
    }, {
    "code": "HP:0011342",
    "display": "Mild global developmental delay"
    }, {
    "code": "HP:0001270",
    "display": "Motor Delay"
    }, {
    "code": "HP:0000750",
    "display": "Delayed speech and language development"
    }, {
    "code": "HP:0012434",
    "display": "Delayed social development"
    }, {
    "code": "HP:0001249",
    "display": "Intellectual disability"
    }, {
    "code": "HP:0002187",
    "display": "Profound intellectual disability"
    }, {
    "code": "HP:0010864",
    "display": "Severe intellectual disability"
    }, {
    "code": "HP:0002342",
    "display": "Moderate intellectual disability"
    }, {
    "code": "HP:0001256",
    "display": "Mild intellectual disability"
    }, {
    "code": "HP:0006889",
    "display": "Borderline intellectual disability"
    }, {
    "code": "HP:0100543",
    "display": "Cognitive impairment"
    }, {
    "code": "HP:0002376",
    "display": "Developmental regression"
    }, {
    "code": "HP:0000726",
    "display": "Dementia"
    }, {
    "code": "HP:0002344",
    "display": "Progressive neurologic deterioration"
    }, {
    "code": "HP:0002333",
    "display": "Motor deterioration"
    }, {
    "code": "HP:0002401",
    "display": "Stroke-like episode"
    }, {
    "code": "HP:0002076",
    "display": "Migraine"
    }, {
    "code": "HP:0001250",
    "display": "Seizure"
    }, {
    "code": "HP:0001336",
    "display": "Myoclonus"
    }, {
    "code": "HP:0100704",
    "display": "Cerebral visual impairment"
    }, {
    "code": "HP:0000648",
    "display": "Optic atrophy"
    }, {
    "code": "HP:0000543",
    "display": "Optic disc pallor"
    }, {
    "code": "HP:0001257",
    "display": "Spasticity"
    }, {
    "code": "HP:0001347",
    "display": "Hyperreflexia"
    }, {
    "code": "HP:0001112",
    "display": "Leber optic atrophy"
    }, {
    "code": "HP:0002072",
    "display": "Chorea"
    }, {
    "code": "HP:0001266",
    "display": "Choreoathetosis"
    }, {
    "code": "HP:0001337",
    "display": "Tremor"
    }, {
    "code": "HP:0001332",
    "display": "Dystonia"
    }, {
    "code": "HP:0007076",
    "display": "Extrapyramidal muscular rigidity"
    }, {
    "code": "HP:0002015",
    "display": "Dysphagia"
    }, {
    "code": "HP:0002483",
    "display": "Bulbar signs"
    }, {
    "code": "HP:0002200",
    "display": "Pseudobulbar signs"
    }, {
    "code": "HP:0002073",
    "display": "Progressive cerebellar ataxia"
    }, {
    "code": "HP:0009830",
    "display": "Peripheral neuropathy"
    }, {
    "code": "HP:0000763",
    "display": "Sensory neuropathy"
    }, {
    "code": "HP:0003434",
    "display": "Sensory ataxic neuropathy"
    }, {
    "code": "HP:0007108",
    "display": "Demyelating peripheral neuropathy"
    } ]
  } ]
  }
}