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
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | Contractile apparatus;Sarcotubular organization;Mitochondria, specify;Myelinated axon number, specify;Myelinated axon clusters, possibly regenerative;Axonal degeneration;Myelination, specify;Mitochondria, specify;Abnormal storage material, specify | Contractile apparatus;Sarcotubular organization;Mitochondria, specify (choose all that apply);Myelinated axon number, specify;Myelinated axon clusters, possibly regenerative;Axonal degeneration (active);Myelination, specify;Mitochondria, specify;Abnormal storage material, specify | 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 |
Multiple Pre-Defined Values Selected |
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| C12273 | Biopsy and autopsy normal immunoreactivity assay name | BiopsyAutpsyNormImmuAssayName | Name of the normal immunoreactivity assay used | Name of the normal immunoreactivity assay use | Assays with normal 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 |
Free-Form Entry |
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| C12252 | Biopsy and autopsy fiber size variation result type | BpApFibSizeVariResltTyp | Distribution of the atrophic fibers | Distribution of the atrophic fiber | Specify | Single fibers;Groups of fibers;Type 1 fibers only;Type 2 fibers only;Perifascicular distribution | Single fibers;Groups of fibers;Type 1 fibers only;Type 2 fibers only;Perifascicular distribution | Alphanumeric |
Only answered if "Subsets of fibers, leading to excessive variation in fiber size, specify" is answered for "Atrophy/Hypotrophy". Choose all that apply |
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 |
Multiple Pre-Defined Values Selected |
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| C12526 | Biopsy and autopsy type 1 predominance fiber percentage value | BpApTyp1PredomFibPctVal | Percentage of Type 1 predominance fiber present | Percentage of Type 1 predominance fiber present | Percent Type 1 fibers | Alphanumeric |
Only answered if "Type 1 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 |
Free-Form Entry |
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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 | Abnormal cell types found in the biopsy;Excessive glycogen;Excessive intracellular lipid;Liver biopsy performed | Abnormal cell types found in the biopsy;Excessive glycogen;Excessive intracellular lipid;Liver biopsy performed | 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 |
Single Pre-Defined Value Selected |
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| C17903 | Biopsy and autopsy abnormalities on immunohistochemistry text | BpApAbnrmlImmhistchmclTxt | Text regarding abnormalities on immunohistochemistry | Text regarding abnormalities on immunohistochemistry | Other abnormalities noted on immunohistochemistry | 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 |
Free-Form Entry |
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| C12226 | Specimen source type | SpecmnSourcTyp | Type of specimen collection source | Type of specimen collection source | Is this a biopsy or autopsy specimen? | Biopsy;Autopsy | Biopsy;Autopsy | Alphanumeric |
No instructions available |
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 |
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;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 |
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| C12274 | Biopsy and autopsy reduced immunoreactivity assay name | BiopsyAutpsyRedImmunAssayName | Reduced immunoreactivity that were noted on the immunohistochemical stains | Reduced immunoreactivity that were noted on the immunohistochemical stain | Assays with reduced 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 |
Free-Form Entry |
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| C12253 | Biopsy and autopsy atrophy or hyportrophy fiber shape type | BpApAtrphyHyptrphyFibShpTyp | Atrophic/ hypertrophic fiber shape | Atrophic/ hypertrophic fiber shape | Atrophic/hypotrophic fiber shape | Angulated;Round | Angulated;Round | Alphanumeric |
Only answered if "Atrophic/Hypertrophic fiber shape, specify" is answered for "Atrophy/Hypotrophy" |
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 |
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| 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 |
Free-Form Entry |
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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 |
Free-Form Entry |
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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 |
Free-Form Entry |
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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 |
Free-Form Entry |
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| 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 |
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| 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 |
Free-Form Entry |
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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 |
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| 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 |
Free-Form Entry |
