CDE Detailed Report
Disease: Congenital Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue
Displaying 151 - 166 of 166
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue
Displaying 151 - 166 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C19928 | Biopsy and autopsy moth eaten fibers status | BpApMothEatFibStat | Moth-eaten fibers status in biopsy/autopsy | Moth-eaten fibers status in biopsy/autopsy | Moth-eaten 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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| C19939 | Biopsy and autopsy fiber abnormality status | BpApAbnrmlyFibStat | Presence or absence of fiber abnormalities on a muscle biopsy | Presence or absence of fiber abnormalities on a muscle biopsy | Abnormalities of fiber type | Absent;Present | Absent;Present | Alphanumeric |
Only answered if "Abnormalities of fiber type" is answered for "Which of the following diagnostic abnormalities were noted on histochemical stains?" |
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 |
Single Pre-Defined Value Selected |
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| C12525 | Biopsy and autopsy fiber abnormality type | BpApAbnrmlyFibTyp | Fiber type abnormalities on a muscle biopsy | Fiber type abnormalities on a muscle biopsy | Specify | Type 1 predominance;Type 2 predominance;Fiber type grouping | Type 1 predominance;Type 2 predominance;Fiber type grouping | Alphanumeric |
Only answered if "Abnormalities of fiber type" 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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| C19971 | Immunohistochemistry caveolin 3 status | IHCCaveolin3Stat | The status of caveolin 3 in immunohistochemistry | The status of caveolin 3 in immunohistochemistry | Caveolin 3 | 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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| C19907 | Hypertrophic fibers presence status | HyperFibPresStat | Presence of hypertrophic fiber | Presence of hypertrophic fiber | Hypertrophic fibers | 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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| 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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12248 | Pathologist name | PathologistName | Name of pathologist who diagnosed the case | Name of pathologist who diagnosed the case | Name of pathologist who diagnosed the case | 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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| C19950 | Immunohistochemistry myosin type | IHCMyosImmunohistochemTyp | Type of myosin immunochemistry used | Type of myosin immunochemistry used | Myosin immunohistochemistry | Fast myosin;Slow myosin;Embryonic myosin;Fetal myosin | Fast myosin;Slow myosin;Embryonic myosin;Fetal myosin | 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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| 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 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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| C19982 | Immunohistochemistry CD20 percentage value | IHCCD20PercentVal | Percent value of CD20 | Percent value of CD20 | 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 | |||||||||
| C19918 | Biopsy and autopsy strongly succinate dehydrogenase reactive blood vessels status | BpApStrSDHReactBldVessStat | Strongly-succinate dehydrogenase (SDH) blood vessels status in biopsy | Strongly-succinate dehydrogenase (SDH) blood vessels status in biopsy | Strongly-SDH reactive blood vessels (SSVs) | 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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| 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 | Excessive glycogen;Excessive intracellular lipid | Excessive glycogen;Excessive intracellular lipid | 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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| C19961 | Immunohistochemistry alpha dystroglycan VIA4 status | IHCAlpDystroglyStat | The status of Alpha dystroglycan (VIA4) in immunohistochemistry | The status of Alpha dystroglycan (VIA4) in immunohistochemistry | Alpha dystroglycan (VIA4) | 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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| C19897 | Elevated erythrocyte sedimentation rate value | ElevatErythSedimRateVal | The elevated erythrocyte sedimentation rate value | The elevated erythrocyte sedimentation rate value | Patient Value | Numeric Values |
No instructions available |
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 |
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| C19993 | Immunohistochemistry myotilin aggregate level status | IHCMyotilinAggregLvlStat | Level of myotilin aggregate | Level of myotilin aggregate | Myotilin | Normal;Increased | Normal;Increased | 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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| C19929 | Biopsy and autopsy moth eaten fibers estimated percentage value | BpApMothEatFibEstCt | Moth-eaten fibers estimated percentage value | Moth-eaten 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 |
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