CDE Detailed Report
Disease: Congenital Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Peripheral Nerves - Biopsies and Autopsies
Displaying 1 - 28 of 28
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Peripheral Nerves - Biopsies and Autopsies
Displaying 1 - 28 of 28
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C12235 | Histochemical stains used type | HistchmclStainUseTyp | Type of standard histochemical stains used on the tissue specimen | Type of standard histochemical stains used on the tissue specimen | Which standard histochemical stains were used? | H and E;Masson trichrome;Congo red;Myelin stain, specify;Microorganism stains, specify | H and E;Masson trichrome;Congo red;Myelin stain, specify;Microorganism stains, specify | Alphanumeric |
Histological Findings in Nerve Biopsy or Autopsy specimens – Choose all that apply. |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12280 | Specimen immunohistochemical stain result | SpecmnImmhistchmclStainReslt | Result of immunohistochemical stain performed | Result of immunohistochemical stain performed | Results | Alphanumeric |
Histological Findings in Nerve Biopsy or Autopsy specimens |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12237 | Specimen overall interpretation status | SpecmnOvrllIntrprtnStatus | Status of the overall assessment of the specimen | Status of the overall assessment of the specimen | Overall interpretation of specimen | Myopathic;Dystrophic;Neuropathic;Storage disease;Inflammatory;Normal;Inadequate | Myopathic;Dystrophic;Neuropathic;Storage disease;Inflammatory;Normal;Inadequate | Alphanumeric |
Overall Interpretation |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12281 | Tissue abnormality myelin axon decrease status | TissAbnrmlyMyelnAxnDecreasStat | Status of any observed decrease in the myelinated axon numbers of the epon-embedded tissue specimen | Status of any observed decrease in the myelinated axon numbers of the epon-embedded tissue specimen | Myelinated axon number, specify | Mild decrease;Severe decrease | Mild decrease;Severe decrease | Alphanumeric |
Epon-Embedded Tissue/Electron Microscopy (Nerve Biopsy/Autopsy Specimens) |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| 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 | Myelinated axon number, specify;Myelinated axon clusters, possibly regenerative;Axonal degeneration;Myelination, specify;Mitochondria, specify;Abnormal storage material, specify | Myelinated axon number, specify;Myelinated axon clusters, possibly regenerative;Axonal degeneration (active);Myelination, specify;Mitochondria, specify;Abnormal storage material, specify | Alphanumeric |
Epon-Embedded Tissue/Electron Microscopy (Nerve Biopsy/Autopsy Specimens) |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12282 | Tissue abnormality myelination type | TissAbnrmlyMyelinationTyp | Type of any observed myelination in the epon-embedded tissue specimen | Type of any observed myelination in the epon-embedded tissue specimen | Myelination, specify | Abnormally thin myelin;Myelin absent from large diameter axons;Abnormal myelin architecture;Onion bulbs;Segmental demyelination/remyelination in excess of age related change;Bands of Bungner | Abnormally thin myelin;Myelin absent from large diameter axons;Abnormal myelin architecture;Onion bulbs;Segmental demyelination/remyelination in excess of age related change (teased fiber preparation);Bands of Bungner (empty Schwann cells) | Alphanumeric |
Epon-Embedded Tissue/Electron Microscopy (Nerve Biopsy/Autopsy Specimens) |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12226 | Specimen source type | SpecmnSourcTyp | Type of specimen collection source | Type of specimen collection source | Specimen type? | Biopsy;Autopsy | Biopsy;Autopsy | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | 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 | Yes;No | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12283 | Tissue abnormality mitochondria type | TissAbnrmlyMitochondTyp | Type of any mitochondrial abnormality observed in the epon-embedded tissue specimen | Type of any mitochondrial abnormality observed in the epon-embedded tissue specimen | Mitochondria, specify | Abnormal shape;Abnormal location, specify;Abnormal numbers;Abnormal architecture | Abnormal shape;Abnormal location, specify;Abnormal numbers;Abnormal architecture | Alphanumeric |
Epon-Embedded Tissue/Electron Microscopy (Nerve Biopsy/Autopsy Specimens) |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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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 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
hour | |||||||||
| 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 | Yes;No | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | 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 | Abnormal storage material, specify | Alphanumeric | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
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 fragments | Numeric Values |
Answer should be recorded as a dimension (AAxAAxAA) in centimeters (cm). |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
centimeter | |||||||||
| 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 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C17906 | Specimen immunohistochemical stain use indicator | SpecmnImmhistchmclStainUseInd | Indicator whether immunohistochemcial stains were used on the tissue specimen | Indicator whether immunohistochemical stains were used on the tissue specimen | If immunohistochemical stains were used, record results in below table | N/A | N/A | Alphanumeric |
Histological Findings in Nerve Biopsy or Autopsy specimens |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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 | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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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 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C17907 | Specimen histochemical stain diagnostic abnormality text | SpcmnHistStainDiagnsAbnrmlyTxt | Text description of details of the specified diagnostic abnormalities on the histochemical stains | Text description of details of the specified diagnostic abnormalities on the histochemical stains | Details of diagnostic abnormalities | Alphanumeric |
Histological Findings in Nerve Biopsy or Autopsy specimens |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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 |
Epon-Embedded Tissue/Electron Microscopy (Nerve Biopsy/Autopsy Specimens) |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C18616 | Mitochondria abnormality location text | MitchndriaAbnrmlLocatnType | Text description of the location abnormality of observed in the mitochondria | Text description of the location abnormality of observed in the mitochondria | Abnormal location, specify | Alphanumeric | No references available | Adult;Pediatric | Supplemental | 1.00 | 2013-10-11 00:00:00.0 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12277 | Biospecimen fragment collect count | BiospecmnFragCollctCt | Count of fragments collected in the tissue specimen | Count of fragments collected in the tissue specimen | Number of fragments collected | Numeric Values |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | 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 |
Histological Findings in Nerve Biopsy or Autopsy specimens – Choose all that apply. |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12233 | Preservation technique used type | PresrvtnTechnqUseTyp | Type of preservation technique used to preserve the specimen | Type of preservation technique used to preserve the specimen | Processing? | Frozen;Formalin-fixed/ Paraffin-embedded;Glutaraldehyde-fixed/ Epon-embedded;Glutaraldehyde-fixed/ Teased fibers | Frozen;Formalin-fixed/ Paraffin-embedded;Glutaraldehyde-fixed/ Epon-embedded;Glutaraldehyde-fixed/ Teased fibers | Alphanumeric |
Choose only one |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12278 | Specimen histochemical stain diagnostic abnormality type | SpcmnHistStainDiagnsAbnrmlyTyp | Types of diagnostic abnormalities noted on the histochemical stains performed on the tissue specimen | Types of diagnostic abnormalities noted on the histochemical stains performed on the tissue specimen | Which of the following abnormalities were noted on histochemical stains? | Decreased fiber density;Decreased myelination;Atherosclerosis;Amyloid deposits;Myelin ovoids;Abnormal storage material;Granulomas;Microorganisms;Thrombi in blood vessels;Lymphatic inflammation;Vasculitis | Decreased fiber density;Decreased myelination;Atherosclerosis;Amyloid deposits;Myelin ovoids;Abnormal storage material;Granulomas;Microorganisms;Thrombi in blood vessels;Lymphatic inflammation;Vasculitis | Alphanumeric |
Histological Findings in Nerve Biopsy or Autopsy specimens – Choose all that apply and provide details below. |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12234 | Preservation technique used amount value | PresrvtnTechnqUseAmntVal | Value of the amount of preservation solution or material used to preserve the specimen | Value of the amount of preservation solution or material used to preserve the specimen | Amount | Alphanumeric |
Answer for the freezing or fixation technique used. Answer should be recorded in milligrams (mg). If amount used is not known, select Not known. |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
milligram | ||||||||
| C12279 | Specimen immunohistochemical stain name | SpecmnImmhistchmclStainNam | Name of immunohistochemical stain used on tissue specimen | Name of immunohistochemical stains used in nerve biopsy | Stain Used | Alphanumeric |
Histological Findings in Nerve Biopsy or Autopsy specimens |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Peripheral Nerves - Biopsies and Autopsies | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
