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 |
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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 | |||||||||
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 | ||||||||
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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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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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 | |||||||||
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 | ||||||||
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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