CDE Detailed Report
Disease: Congenital Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue
Displaying 101 - 150 of 166
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue
Displaying 101 - 150 of 166
| CDE ID | CDE Name | Variable Name | Definition | Short Description | Question Text | Permissible Values | Description | Data Type | Disease Specific Instructions | Disease Specific Reference | Population | Classification (e.g., Core) | Version Number | Version Date | CRF Name (CRF Module / Guidance) | Subdomain Name | Domain Name | Size | Input Restrictions | Min Value | Max Value | Measurement Type | External Id Loinc | External Id Snomed | External Id caDSR | External Id CDISC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C19901 | Imaging electromyography findings status | ImgEMGFindStatus | Status of the electromyography (EMG) findings of patient | Status of the electromyography (EMG) findings of patient | EMG findings | Not known;Myopathic;Neuropathic | Not known;Myopathic;Neuropathic | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12226 | Specimen source type | SpecmnSourcTyp | Type of specimen collection source | Type of specimen collection source | Is this a biopsy or autopsy specimen? | Biopsy;Autopsy | Biopsy;Autopsy | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19933 | Biopsy and autopsy ring fibers estimated percentage value | BpApRingFibEstCt | Ring fibers estimated percentage value | Ring fibers estimated percentage value | Moderate (present in:) | Numeric Values | No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | ||||||||
| C19944 | Biopsy and autopsy intramuscular nerve branche type | BpApIntramusNervBranchTyp | Type of intramuscular nerve branches | Type of intramuscular nerve branches | Specify | Decreased axonal density;Increased endoneurial fibrosis;Abnormality of myelination;Abnormal structures;Muscle spindles | Decreased axonal density;Increased endoneurial fibrosis;Abnormality of myelination;Abnormal structures;Muscle spindles | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12530 | Biopsy autopsy COX-negative fibers estimated count | BpApCOXNegFibEstCt | COX-negative fibers estimated number | COX-negative fibers estimated number | Moderate (present in:) | Alphanumeric |
Only answered if "COX-negative fibers" is answered for "Myopathy-associated pathological structures" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C19976 | Immunohistochemistry CD3 percentage value | IHCCD3PercentVal | Percent value of CD3 | Percent value of CD3 | Present in | Numeric Values | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | |||||||||
| C19912 | Biopsy and autopsy rimmed vacuoles status | BpApRimmVacStat | Rimmed vacuoles status in tissue | Rimmed vacuoles status in tissue | Rimmed vacuoles | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12239 | Electron microscopy performed indicator | ElectrnMicroPerfInd | Indicator of whether electron microscopy was performed | Indicator of whether electron microscopy was performed | Was electron microscopy performed? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12254 | Biopsy and autopsy myopathy-associated pathological structures type | BpApMyopAsscPathoStrucTyp | The type of myopathy-associated pathological structures seen in the histology of the biopsy or autopsy specimen | The type of myopathy-associated pathological structures seen in the histology of the biopsy or autopsy specimen | Myopathy-associated pathological structures, specify | Central nuclei;Nemaline rods;Ragged red fibers;COX-negative fibers;Central cores;Minicores;Marked hypertrophy of type 1 fibers;Blood vessel deposits suggestive of amyloid;Core-like lesions;Internal nuclei;Lobulated fibers;Moth-eaten fibers;Non-rimmed vacuoles;Red inclusions on trichrome;Rimmed vacuoles;Ring fibers;Split fibers;Strongly SDH-reactive blood vessels;Targetoid fibers;Tubular aggregates | Central nuclei;Nemaline rods;Ragged red fibers;COX-negative fibers;Central cores;Minicores;Marked hypertrophy of type 1 fibers;Blood vessel deposits suggestive of amyloid;Core-like lesions;Internal nuclei;Lobulated fibers;Moth-eaten fibers;Non-rimmed vacuoles;Red inclusions on trichrome;Rimmed vacuoles;Ring fibers;Split fibers;Strongly SDH-reactive blood vessels;Targetoid fibers;Tubular aggregates | Alphanumeric |
Only answered if "Myopathy-associated pathological structures" is answered for "Which of the following diagnostic abnormalities were noted on histochemical stains?" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19955 | Immunohistochemistry dystrophin status | IHCDystrophinStat | The status of dystrophin (BMD hotspot) in immunohistochemistry | The status of dystrophin (BMD hotspot) in immunohistochemistry | Dystrophin (BMD hotspot) | Absent;Reduced;Cytoplasmic;Normal | Absent;Reduced;Cytoplasmic;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19891 | Symptom presentation other muscle symptoms type | SymptmPresentOthMusSympTyp | Other muscle symptoms participant/ subject shows at presentation | Other muscle symptoms participant/ subject shows at presentation | Other muscle symptoms | Hypotonia (floppiness);Muscle pain;Exercise intolerance;Episodic muscle pain/cramping;Rhabdomyolysis;Contractures | Hypotonia (floppiness);Muscle pain;Exercise intolerance;Episodic muscle pain/cramping;Rhabdomyolysis;Contractures | Alphanumeric |
Check all that apply. |
Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19987 | Immunohistochemistry CD68 presence status | IHCCD68PresStat | The status of the presence of CD68 in immunohistochemistry | The status of the presence of CD68 in immunohistochemistry | CD68 | Absent;Present | Absent;Present | Alphanumeric |
If present; specify the percent of lymphocytes |
Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19923 | Biopsy and autopsy minicores estimated percentage value | BpApMinicoreEstCt | Minicores estimated percent count | Minicores estimated percent count | Moderate (present in:) | Numeric Values | No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | ||||||||
| C12518 | Endomysial fibrosis severity status | EndomysFibroSeverStat | Severity of the Endomysial fibrosis muscle diagnostic abnormalities | Severity of the Endomysial fibrosis muscle diagnostic abnormalities | Endomysial fibrosis | Mild;Moderate;Severe | Mild;Moderate;Severe | Alphanumeric |
No instructions available |
No references available | Adult | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19966 | Immunohistochemistry delta sarcoglycan status | IHCDeltaSarcoglyStat | The status of Delta sarcoglycan in immunohistochemistry | The status of Delta sarcoglycan in immunohistochemistry | Delta sarcoglycan | Absent;Reduced;Normal | Absent;Reduced;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19902 | Imaging electromyography findings text | ImagFindText | Text of imaging findings of patient | Text of imaging findings of patient | Imaging findings (brain/muscle) | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12227 | Postmortem interval for autopsy specimen value | PstmrtmIntrvlApSpecmnVal | Interval in hours of time elapsed between death and the autopsy at which the tissue specimen was collected | Interval in hours of time elapsed between death and the autopsy at which the tissue specimen was collected | If this is an autopsy specimen what is the approximate postmortem interval? | Numeric Values |
Only answered if "Autopsy" is answered for "Is this a biopsy or autopsy specimen?" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
hour | |||||||||
| C19934 | Biopsy and autopsy split fibers status | BpApSplitFibStat | Split fibers status in biopsy/autopsy | Split fibers status in biopsy/autopsy | Split fibers | Absent;Sparse | Absent;Sparse | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19945 | Biopsy and autopsy myelination abnormality text | BpApAbnrmlMyelText | Specify abnormality of myelination | Specify abnormality of myelination | Abnormality of myelination | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C17900 | Age presentation year value | AgePresentYearVal | Age (in years) of participant/subject at presentation | Age (in years) of participant/subject at presentation | Age at presentation | Numeric Values |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C19977 | Immunohistochemistry CD4 presence status | IHCCD4PresStat | The status of the presence of CD4 in immunohistochemistry | The status of the presence of CD4 in immunohistochemistry | CD4 | Absent;Present | Absent;Present | Alphanumeric |
If present; specify the percent of lymphocytes |
Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19913 | Biopsy and autopsy rimmed vacuoles estimated percentage value | BpApRimmVacEstCt | Rimmed vacuoles estimated percentage value | Rimmed vacuoles estimated percentage value | Moderate (present in:) | Numeric Values | No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | ||||||||
| C12240 | Biochemical or genetic test performed indicator | BiochemGenTestPerfInd | Indicator of whether subsequent biochemical or genetic testing was performed | Indicator of whether subsequent biochemical or genetic testing was performed | Was subsequent biochemical or genetic testing performed? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12255 | Biopsy and autopsy central nuclei estimated fibers percent value | BpApCentrlNucEstFibPrsVal | Estimated percent of fibers in central nuclei | Estimated percent of fibers in central nucle | Specify estimated percent of fibers (include eccentric nuclei) | Numeric Values |
Only answered if "Central nuclei" is answered for "Myopathy-associated pathological structures" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C19956 | Immunohistochemistry spectrin status | IHCSpectrinStat | The status of spectrin in immunohistochemistry | The status of spectrin in immunohistochemistry | Spectrin | Absent on necrotic fibers;Normal | Absent on necrotic fibers;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19892 | Symptom presentation eye symptoms type | SymptmPresentEyeSympTyp | Eye symptoms participant/ subject shows at presentation | Eye symptoms participant/ subject shows at presentation | Eye symptoms | Ptosis;Ophthalmoplegia | Ptosis;Ophthalmoplegia | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19988 | Immunohistochemistry CD68 percentage value | IHCCD68PercentVal | Percent value of C68 | Percent value of C68 | Present in | Numeric Values | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | |||||||||
| C20322 | Symptom neuromuscular presentation type | SymptmNeurmPresentTyp | Symptoms of neuromuscular disease in participant/ subject at presentation | Symptoms of neuromuscular disease in participant/ subject at presentation | Symptoms at presentation | Weakness;Central nervous system disease;Other muscle symptoms;Failure to Thrive;Respiratory difficulties;Skin changes;Eye symptoms;Joint laxity;Clinical features of cardiac involvement/known cardiac disease;Exposure to toxins, supplements, or drugs;Other | Weakness;Central nervous system disease;Other muscle symptoms;Failure to Thrive;Respiratory difficulties;Skin changes;Eye symptoms;Joint laxity;Clinical features of cardiac involvement/known cardiac disease;Exposure to toxins, supplements, or drugs;Other | Alphanumeric |
Check all that apply. |
Adult;Pediatric | Supplemental | 1.00 | 2015-02-18 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19924 | Biopsy and autopsy core like lesions status | BpApCoreLikeLesStat | Core-like lesions status in biopsy | Core-like lesions status in biopsy | Core-like lesions | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12519 | Myofiber degeneration severity status | MyofibDegenSeverStat | Severity of the Myofiber degeneration muscle diagnostic abnormalities | Severity of the Myofiber degeneration muscle diagnostic abnormalities | Myofiber degeneration | Mild;Moderate;Severe | Mild;Moderate;Severe | Alphanumeric |
No instructions available |
No references available | Adult | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19967 | Immunohistochemistry gamma sarcoglycan status | IHCGammaSarcoglyStat | The status of Gamma sarcoglycan in immunohistochemistry | The status of Gamma sarcoglycan in immunohistochemistry | Gamma sarcoglycan | Absent;Reduced;Normal | Absent;Reduced;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19903 | Familial inheritance status | FamilInheritStat | Status of familial inheritance of participant | Status of familial inheritance of participant | Familial Inheritance | None;Autosomal recessive;Autosomal dominant;X-linked;Maternal | None;Autosomal recessive;Autosomal dominant;X-linked;Maternal | Alphanumeric | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:42:35.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12228 | Tissue specimen name | TissSpecmnName | Tissue specimen name collected from the participant | Tissue specimen name collected from the participant | Tissue collected | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:16.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C19935 | Biopsy and autopsy split fibers estimated percentage value | BpApSplitFibEstCt | Split fibers estimated percentage value | Split fibers estimated percentage value | Moderate (present in:) | Numeric Values | No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | ||||||||
| C19946 | Biopsy and autopsy abnormal structure text | BpApAbnrmlStrucText | Specify abnormal structure | Specify abnormal structure | Abnormal structures | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C17901 | Elevated creatine kinase Indicator | ElevatCreatinKinasInd | Indicator of whether participant/subject experienced elevated creatine kinase levels | Indicator of whether participant/subject experienced elevated creatine kinase levels | Elevated creatine kinase | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19978 | Immunohistochemistry CD4 percentage value | IHCCD4PercentVal | Percent value of CD4 | Percent value of CD4 | Present in | Numeric Values | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | |||||||||
| C19914 | Biopsy and autopsy non rimmed vacuoles status | BpApNonRimVacStat | Non-rimmed vacuoles status in biopsy | Non-rimmed vacuoles status in biopsy | Non-rimmed vacuoles | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12241 | Biochemical or genetic test name | BiochemGenTestName | Name of the biochemical or genetic test as performed on the specimen | Name of the biochemical or genetic test as performed on the specimen | Test Name | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12256 | Biopsy and autopsy eccentric nuclei estimated fibers percent value | BpApEccNucEstFibPrcntVal | Estimated percent of fibers in eccentric nuclei | Estimated percent of fibers in eccentric nucle | Specify estimated percent of fibers (if not quantified above) | Numeric Values |
Only answered if "Eccentric nuclei" is answered for "Myopathy-associated pathological structures" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C19957 | Immunohistochemistry utrophin status | IHCUtrophinStat | The status of utrophin in immunohistochemistry | The status of utrophin in immunohistochemistry | Utrophin | Normal;Increased at sarcolemma | Normal;Increased at sarcolemma | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19893 | Symptom presentation cardiac disease text | SymptmPresentCardDisText | Known cardiac disease participant/ subject shows at presentation | Known cardiac disease participant/ subject shows at presentation | Clinical features of cardiac involvement/Known cardiac disease | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C19989 | Immunohistochemistry C5b9 presence status | IHCC5b9PresStat | The status of the presence of C5b9 in immunohistochemistry | The status of the presence of C5b9 in immunohistochemistry | C5b-9 | Absent;Present | Absent;Present | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C20324 | Biopsy and autopsy nemaline rod status | BpApNemaRodStat | The status as related to rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations | The status as related to rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations | Nemaline rods/bodies | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-17 11:38:01.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19925 | Biopsy and autopsy core like lesions estimated percentage value | BpApCoreLikeLesEstCt | Core-like lesions estimated percentage value | Core-like lesions estimated percentage value | Moderate (present in:) | Numeric Values | No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | ||||||||
| C12520 | Specimen type 1 fiber muscle biopsy percent result number | SpecTyp1FibMuscBpPctResltNum | Result for type 1 fiber muscle biopsy percent | Result for type 1 fiber muscle biopsy percent | Numeric Values |
Only record Type 1 fiber percentage if Type 1 predominance is completed |
No references available | Adult | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C19968 | Immunohistochemistry dysferlin status | IHCDyferlinStat | The status of dysferlin in immunohistochemistry | The status of dysferlin in immunohistochemistry | Dysferlin | Absent;Reduced;Normal | Absent;Reduced;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19904 | Symptom disease lab data known disease other text | SymptSignDisLabDataOTH | Text of other symptoms, signs, known diseases, and lab data | Text of other symptoms, signs, known diseases, and lab data | Other symptoms, signs, known diseases, and lab data | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12229 | Tissue specimen size measurement | TissSpecmnSizeMeasr | Measurement of the size of the tissue specimen collected | Measurement of the size of the tissue specimen collected | Size of tissue collected | Numeric Values |
This information may not be available for autopsy tissue. |
No references available | Adult;Pediatric | Core | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
centimeter | |||||||||
| C19936 | Biopsy and autopsy lobulated fibers status | BpApLobulFibStat | Lobulated fibers status in biopsy/autopsy | Lobulated fibers status in biopsy/autopsy | Lobulated fiber | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
