CDE Detailed Report

Disease: Spinal Muscular Atrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsy and Autopsy Tissue

Displaying 51 - 68 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
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 Core 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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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

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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

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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

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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;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

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

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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

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

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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

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

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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

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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

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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

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

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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

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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 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

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

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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

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centimeter
CSV