CDE Detailed Report
Disease: Myotonic Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsy and Autopsy Tissue
Displaying 1 - 50 of 68
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsy and Autopsy Tissue
Displaying 1 - 50 of 68
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C12238 | Biopsy and autopsy epon embedded tissue abnormalities location type | BpApEponEmbedTissAbnrmlLocTyp | Type of abnormality observed microscopically in epon-embedded tissue specimen | Type of abnormality observed microscopically in epon-embedded tissue specimen | Abnormalities noted in | Contractile apparatus;Sarcotubular organization;Mitochondria, specify;Myelinated axon number, specify;Myelinated axon clusters, possibly regenerative;Axonal degeneration;Myelination, specify;Mitochondria, specify;Abnormal storage material, specify | Contractile apparatus;Sarcotubular organization;Mitochondria, specify (choose all that apply);Myelinated axon number, specify;Myelinated axon clusters, possibly regenerative;Axonal degeneration (active);Myelination, specify;Mitochondria, specify;Abnormal storage material, specify | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12273 | Biopsy and autopsy normal immunoreactivity assay name | BiopsyAutpsyNormImmuAssayName | Name of the normal immunoreactivity assay used | Name of the normal immunoreactivity assay use | Assays with normal immunoreactivity | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12526 | Biopsy and autopsy type 1 predominance fiber percentage value | BpApTyp1PredomFibPctVal | Percentage of Type 1 predominance fiber present | Percentage of Type 1 predominance fiber present | Percent Type 1 fibers | Alphanumeric |
Only answered if "Type 1 predominance' fiber is selected |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12252 | Biopsy and autopsy fiber size variation result type | BpApFibSizeVariResltTyp | Distribution of the atrophic fibers | Distribution of the atrophic fiber | Specify | Single fibers;Groups of fibers;Type 1 fibers only;Type 2 fibers only;Perifascicular distribution | Single fibers;Groups of fibers;Type 1 fibers only;Type 2 fibers only;Perifascicular distribution | Alphanumeric |
Only answered if "Subsets of fibers, leading to excessive variation in fiber size, specify" is answered for "Atrophy/Hypotrophy". Choose all that apply |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C17903 | Biopsy and autopsy abnormalities on immunohistochemistry text | BpApAbnrmlImmhistchmclTxt | Text regarding abnormalities on immunohistochemistry | Text regarding abnormalities on immunohistochemistry | Other abnormalities noted on immunohistochemistry | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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 | Core | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12263 | Biopsy and autopsy abnormal storage material type | BpApAbnmlStrgMatTyp | Excesses of material can be detected in some lipid and glycogen storage diseases, which may be evident on Oil Red O and PAS stains, respectively | Excesses of material can be detected in some lipid and glycogen storage diseases, which may be evident on Oil Red O and PAS stains, respectivel | Abnormal storage material | Abnormal cell types found in the biopsy;Excessive glycogen;Excessive intracellular lipid;Liver biopsy performed | Abnormal cell types found in the biopsy;Excessive glycogen;Excessive intracellular lipid;Liver biopsy performed | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12274 | Biopsy and autopsy reduced immunoreactivity assay name | BiopsyAutpsyRedImmunAssayName | Reduced immunoreactivity that were noted on the immunohistochemical stains | Reduced immunoreactivity that were noted on the immunohistochemical stain | Assays with reduced immunoreactivity | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12527 | Biopsy and autopsy type 2 predominance fiber percentage value | BpApTyp2PredomFibPctVal | Percentage of Type 2 predominance fiber present | Percentage of Type 2 predominance fiber present | Percent of Type 2 fibers | Alphanumeric |
Only answered if "Type 2 predominance' fiber is selected |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12253 | Biopsy and autopsy atrophy or hyportrophy fiber shape type | BpApAtrphyHyptrphyFibShpTyp | Atrophic/ hypertrophic fiber shape | Atrophic/ hypertrophic fiber shape | Atrophic/hypotrophic fiber shape | Angulated;Round | Angulated;Round | Alphanumeric |
Only answered if "Atrophic/Hypertrophic fiber shape, specify" is answered for "Atrophy/Hypotrophy" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17904 | Biopsy and autopsy pathological inclusions text | BpApPathlgyInclTxt | Text describing pathological inclusions (if any) | Indicator of pathological inclusions (if any) | Describe any pathological inclusions noted | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
hour | |||||||||
| C12264 | Biopsy and autopsy abnormal cell name | BpApAbnrmlCellName | List of abnormal cell types found in biopsy | List of abnormal cell types found in biopsy | Abnormal cell types found in the biopsy, Specify which ones | Alphanumeric |
Only answered if "Abnormal cell types found in the biopsy" is answered for "Abnormal storage material" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12275 | Biopsy and autopsy absent immunoreactivity assay name | BpApAbsntImnreacAssyName | Absent immunoreactivity | Absent immunoreactivity | Assays with absent immunoreactivity | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12528 | Biopsy and autopsy nemaline rods restricted to one fiber text | BpApNemaRodRstrct1FibTxt | Nemaline rods restricted to one fiber text | Nemaline rods restricted to one fiber text | Restricted to one fiber type, specify which | Numeric Values |
Only answered if "Nemaline rod , restricted to one fiber type" is answered for "Myopathy-associated pathological structures" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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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;Eccentric nuclei;Inclusion bodies/Rimmed vacuoles;Nemaline rods;Ragged red fibers;COX-negative fibers;Central cores;Minicores;Marked hypertrophy of type 1 fibers | Central nuclei;Eccentric nuclei;Inclusion bodies/Rimmed vacuoles;Nemaline rods;Ragged red fibers;COX-negative fibers;Central cores;Minicores;Marked hypertrophy of type 1 fibers | 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17905 | Biopsy and autopsy abnormal storage material text | BpApAbnrmlStrgMatTxt | Text describing biopsy or autopsy material that has been stored abnormally | Text describing biopsy or autopsy material that has been stored abnormall | Describe any abnormal storage material identified | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12265 | Biopsy and autopsy diagnostic abnormalities severity grade | BpApDiagnosAbnrmlSeverGrade | Severity of the diagnostic muscle abnormalities | Severity of the diagnostic muscle abnormalities | Mild/Moderate/Severe | Mild;Moderate;Severe | Mild;Moderate;Severe | Alphanumeric |
Only answered if Fatty replacement; Endomysial fibrosis; or Myofiber degeneration is answered for "diagnostic abnormalities" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsy 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 references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12276 | Biopsy and autopsy mitochondria abnormality type | BpApMitochAbnrmlyTyp | Type of mitochondria abnormality in muscle biopsy | Type of mitochondria abnormality in muscle biopsy | Abnormalities noted in Mitochondria, specify | Abnormal shape;Abnormal location;Abnormal numbers;Abnormal architecture | Abnormal shape;Abnormal location, specify;Abnormal numbers;Abnormal architecture | Alphanumeric |
Choose all that apply. Only answered if "Mitochondria" is answered for "Abnormalities noted in" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12529 | Biopsy and autopsy ragged red fibers estimated count | BpApRggdRdFibEstCt | Ragged red fibers estimated number | Ragged red fibers estimated number | Ragged red fibers, Estimated number | Numeric Values |
Only answered if "Ragged red fibers" is answered for "Myopathy-associated pathological structures" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C18828 | Histochemical stains used other text | HistchmclStainUseOTH | The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen | The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen | Other, specify | Alphanumeric |
Choose all that apply |
No references available | Adult;Pediatric | Core | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
centimeter | |||||||||
| C12266 | Biopsy and autopsy excessive intracellular lipid severity grade | BpApExesIntracellLipSeverGrade | Severe lipid storage pathology involves excess Oil Red O+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild lipid storage pathology is difficult to determine at the light microscopic level and may only be evident on Oil Red O stain or on electron microscopy | Severe lipid storage pathology involves excess Oil Red O+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild lipid storage pathology is difficult to determine at the light microscopic level and may only be evident on Oil Red O stain or on electron microscop | Excessive intracellular lipid Specify severity | Mild;Severe | Mild;Severe | Alphanumeric |
Only answered if "Excessive intracellular lipid" is answered for "Abnormal storage material" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12517 | Fatty replacement severity status | FttyReplcmntSeverStat | Severity of the Fatty replacement muscle diagnostic abnormalities | Severity of the fatty replacement muscle diagnostic abnormalities | Fatty replacement | 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12242 | Biochemical or genetic test result value | BiochemGenTestResltVal | Results of the biochemical or genetic test performed on the specimen | Results of the biochemical or genetic test performed on the specimen | Results (including units) | Alphanumeric |
Only answered if "Yes" is answered for "Was subsequent biochemical or genetic testing performed?" Include units with results, if applicable. |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12530 | Biopsy autopsy COX-negative fibers estimated count | BpApCOXNegFibEstCt | COX-negative fibers estimated number | COX-negative fibers estimated number | COX-negative fibers, Estimated number | 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 Biopsy 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C12230 | Tissue specimen collection date and time | TissSpecmnCollctnDateTime | Date (and time if applicable and known) when the tissue specimen was collected | Date when the tissue specimen was collected | Date of tissue collection | Date or Date & Time |
Record the date/time according to the ISO 8601, the International Standard for the representation of dates and times (http://www.iso.org/iso/home.html). The date/time should be recorded to the level of granularity known (e.g., year, year and month, complete date plus hours and minutes, etc.). |
No references available | Adult;Pediatric | Core | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C12267 | Biopsy and autopsy liver biopsy autopsy results | BpApLivBpApReslt | The results of the liver biopsy | The results of the liver biopsy | Liver biopsy performed, Describe results | Alphanumeric |
Only answered if "Liver biopsy performed" is answered for "Abnormal storage material" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12243 | Microscopy epon embedded tissue abnormality type | MicscpyEponEmbedTissAbnrmlyTyp | Type of microscopy employed to view abnormalities in epon-embedded tissue specimen | Type of microscopy employed to view abnormalities in epon-embedded tissue specimen | Abnormalities seen on | Light microscopy (Toluidine blue staining);Electron microscopy;Both - light microscopy and electron microscopy | Light microscopy (Toluidine blue staining);Electron microscopy;Both - light microscopy and electron microscopy | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12531 | Biopsy autopsy excessive glycogen severity result | BpApExessGlycoSeverReslt | Severe glycogen storage pathology involves excess PAS+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild glycogen storage pathology is difficult to determine at the light microscopic level and may only be evident on PAS stain or electron microscopy | Severe glycogen storage pathology involves excess PAS+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild glycogen storage pathology is difficult to determine at the light microscopic level and may only be evident on PAS stain or electron microscop | Excessive glycogen Specify severity | Mild;Severe | Mild;Severe | Alphanumeric |
Only answered if "Excessive glycogen" is answered for "Abnormal storage material" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12257 | Biopsy and autopsy nemaline rod type | BpApNemaRodTyp | Rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations | Rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations | Nemaline rods, Specify | Restricted to one fiber type;Nuclear rods present | Restricted to one fiber type;Nuclear rods present | Alphanumeric |
Only answered if "Nemaline rods" is answered for "Myopathy-associated pathological structures" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12231 | Laboratory name | LabName | Name of laboratory where assessment was performed | Name of laboratory where assessment was performed | Name of laboratory where pathology was performed | Alphanumeric |
Record the laboratory name where pathology was performed |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12268 | Immunohistochemical stain used muscle biopsy and autopsy type | ImmhistchmclStnUseMuscBpAp | Which immunohistochemical stains were used on muscle biopsy? | Which immunohistochemical stains were used on muscle biopsy? | Which immunohistochemical stains were used? | Myosin immunohistochemistry;Dystrophin panel;Other stains for limb-girdle or congenital muscular dystrophy;Inflammatory myopathy panel | Myosin immunohistochemistry;Dystrophin panel;Other stains for limb-girdle or congenital muscular dystrophy;Inflammatory myopathy panel | Alphanumeric |
Choose all that apply. If dystrophin panel, Other stains for limb-girdle or congenital muscular dystrophy, or Inflammatory myopathy panel were answered for "Which immunohistochemical stains were performed?", specify stains used. |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12245 | Symptom presentation type | SymptmPresentTyp | Symptoms participant/ subject shows at presentation | Symptoms participant/ subject shows at presentation | Symptoms at presentation | Weakness;Hypotonia (floppiness);Muscle pain;Cardiac disease;Central nervous system disease;Unknown | Weakness;Hypotonia (floppiness);Muscle pain;Cardiac disease;Central nervous system disease;Unknown | Alphanumeric |
Check all that apply. |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2017-05-12 12:45:20.0 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C17898 | Laboratory director unknown indicator | LabDirectorUnknownInd | Indicator of unknown laboratory director | Indicator of unknown laboratory director | Name of laboratory director | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12258 | Biopsy and autopsy central cores type | BpApCentrlCoreTyp | The composition of the central cores | The composition of the central core | Central cores, Specify | Structured;Unstructured | Structured;Unstructured | Alphanumeric |
Only answered if "Central cores" is answered for "Myopathy-associated pathological structures" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12232 | Laboratory director name | LabDirectorName | Name of laboratory director where assessment was performed | Name of laboratory director where assessment was performed | Name of laboratory director | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12269 | Biopsy and autopsy immunohistochemical immunofluorescence assays performed | BpApImnhschmImnflrsncAssyPerf | List of stains used | List of stains used | Immunohistochemical/ Immunofluorescence assays performed | Alphanumeric |
List the stains used based upon answers in question 3 |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C12247 | Biopsy and Autopsy tissue collection method type | BpApTissCollMethdTyp | The type of method used for collection of the tissue specimen | The type of method used for collection of the tissue specimen | Biopsy method | Punch biopsy;Blister biopsy;Open biopsy;Open;Needle | Punch biopsy;Blister biopsy;Open biopsy;Open;Needle | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17899 | Preservation technique not used indicator | PreservTechNotUseInd | Indicates preservation technique used is not known | Indicates preservation technique used is not known | Freezing or Fixation Used? | Yes;No:Unknown | Yes;No:Unknown | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12259 | Biopsy and autopsy inflammation type | BpApInflamTyp | Perivascular inflammation is focused around blood vessels, whereas diffuse inflammation also spreads across the muscle tissue. Inflammatory cells identified include lymphocytes, neutrophils, macrophages, and eosinophils. At times, microorganisms can be identified and should be mentioned | Perivascular inflammation is focused around blood vessels, whereas diffuse inflammation also spreads across the muscle tissue. Inflammatory cells identified include lymphocytes, neutrophils, macrophages, and eosinophils. At times, microorganisms can be identified and should be mentione | Specify | Perivascular;Diffuse;Associated with myofiber damage;Inflammatory cells identified;Microorganisms identified | Perivascular;Diffuse;Associated with myofiber damage;Inflammatory cells identified;Microorganisms identified | Alphanumeric |
Only answered if "Inflammation" 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
