CDE Detailed Report

Disease: Congenital Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens%2FBiomarkers
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
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%2FBiomarkers Assessments and Examinations

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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%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected
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%2FBiomarkers Assessments and Examinations 255

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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%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected
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%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected
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%2FBiomarkers Assessments and Examinations

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 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%2FBiomarkers Assessments and Examinations

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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%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected
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%2FBiomarkers Assessments and Examinations 4000

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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%2FBiomarkers Assessments and Examinations

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 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%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19947 Biopsy and autopsy muscle spindle status BpApMusclSpindlStat The status of the presence of muscle spindles The status of the presence of muscle spindles Muscle spindles 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%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C17902 Elevated creatine kinase value ElevatCreatinKinasVal The elevated creatine kinase value The elevated creatine kinase val Patient Value 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%2FBiomarkers Assessments and Examinations

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C19979 Immunohistochemistry CD8 presence status IHCCD8PresStat The status of the presence of CD8 in immunohistochemistry The status of the presence of CD8 in immunohistochemistry CD8 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%2FBiomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19915 Biopsy and autopsy non rimmed vacuoles estimated percentage value BpApNonRimmVacEstCt Non-rimmed vacuoles estimated percentage value Non-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%2FBiomarkers Assessments and Examinations

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 0 100 percent
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 Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens%2FBiomarkers Assessments and Examinations 255

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CSV