Mito_Muscular_Presentation
Mito_muscular_presentation
http://csiro.au/mito_muscular_presentation
Mito MTD part A - muscular presentation
| ID | 785c1057-67b3-4f62-a58b-953fdf18e0cd |
|---|
| Status | ACTIVE |
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| URL | http://csiro.au/mito_muscular_presentation |
|---|
| Version | 20220812 |
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| Publisher | CSIRO |
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Includes
| System | http://purl.obolibrary.org/obo/hp.owl |
|---|
| Concepts |
| Code | Display |
|---|
| HP:0000602 | Ophthalmoplegia | | HP:0000544 | External ophthalmoplegia | | HP:0007650 | Progressive ophthalmoplegia | | HP:0002058 | Mypoathic facies | | HP:0000508 | Ptosis | | HP:0003546 | Exercise intolerance | | HP:0003324 | Generalised muscle weakness | | HP:0001252 | Hypotonia | | HP:0003236 | Elevated circulating creatine kinase concentration | | HP:0003201 | Rhabdomyolysis | | HP:0003457 | EMG abnormality |
|
|---|
{
"resourceType": "ValueSet",
"id": "785c1057-67b3-4f62-a58b-953fdf18e0cd",
"meta": {
"versionId": "1",
"lastUpdated": "2023-12-19T16:16:17.140+10:00"
},
"url": "http://csiro.au/mito_muscular_presentation",
"version": "20220812",
"name": "Mito_muscular_presentation",
"title": "Mito_Muscular_Presentation",
"status": "active",
"publisher": "CSIRO",
"description": "Mito MTD part A - muscular presentation",
"compose": {
"include": [ {
"system": "http://purl.obolibrary.org/obo/hp.owl",
"concept": [ {
"code": "HP:0000602",
"display": "Ophthalmoplegia"
}, {
"code": "HP:0000544",
"display": "External ophthalmoplegia"
}, {
"code": "HP:0007650",
"display": "Progressive ophthalmoplegia"
}, {
"code": "HP:0002058",
"display": "Mypoathic facies"
}, {
"code": "HP:0000508",
"display": "Ptosis"
}, {
"code": "HP:0003546",
"display": "Exercise intolerance"
}, {
"code": "HP:0003324",
"display": "Generalised muscle weakness"
}, {
"code": "HP:0001252",
"display": "Hypotonia"
}, {
"code": "HP:0003236",
"display": "Elevated circulating creatine kinase concentration"
}, {
"code": "HP:0003201",
"display": "Rhabdomyolysis"
}, {
"code": "HP:0003457",
"display": "EMG abnormality"
} ]
} ]
}
}