CDE Detailed Report
Disease: Spinal Muscular Atrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsy and Autopsy Tissue
Displaying 1 - 50 of 68
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsy and Autopsy Tissue
Displaying 1 - 50 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C12259 | Biopsy and autopsy inflammation type | BpApInflamTyp | Perivascular inflammation is focused around blood vessels, whereas diffuse inflammation also spreads across the muscle tissue. Inflammatory cells identified include lymphocytes, neutrophils, macrophages, and eosinophils. At times, microorganisms can be identified and should be mentioned | Perivascular inflammation is focused around blood vessels, whereas diffuse inflammation also spreads across the muscle tissue. Inflammatory cells identified include lymphocytes, neutrophils, macrophages, and eosinophils. At times, microorganisms can be identified and should be mentione | Specify | Perivascular;Diffuse;Associated with myofiber damage;Inflammatory cells identified;Microorganisms identified | Perivascular;Diffuse;Associated with myofiber damage;Inflammatory cells identified;Microorganisms identified | Alphanumeric |
Only answered if "Inflammation" 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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| C17899 | Preservation technique not used indicator | PreservTechNotUseInd | Indicates preservation technique used is not known | Indicates preservation technique used is not known | Freezing or Fixation Used? | Yes;No:Unknown | Yes;No:Unknown | 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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| C12270 | Biopsy and autopsy antibodies used name | BpApAntibodUseName | List the names of antibodies used | List the names of antibodies used | Name of antibodies used | Alphanumeric |
If names of antibodies used is not known, select Not known. |
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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| C12233 | Preservation technique used type | PresrvtnTechnqUseTyp | Type of preservation technique used to preserve the specimen | Type of preservation technique used to preserve the specimen | Freezing or Fixation Used? | Frozen;Formalin-fixed;Paraffin-embedded;Epon-embedded | Frozen;Formalin-fixed;Paraffin-embedded;Epon-embedded | 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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| C12521 | Specimen type 2 fiber muscle biopsy percent result number | SpecTyp2FibMuscBiopPctResltNum | Result for type 2 fiber muscle biopsy percent | Result for type 2 fiber muscle biopsy percent | Numeric Values |
Only record Type 2 fiber percentage if Type 2 predominance is completed |
No references available | Adult | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12260 | Biopsy and autopsy perivascular inflammation type | BpApPerivasInflamTyp | Evidence of vascular damage includes damaged vessels in association with perivascular inflammation and the presence of fibrin thrombi located within vascular spaces | Evidence of vascular damage includes damaged vessels in association with perivascular inflammation and the presence of fibrin thrombi located within vascular space | Perivascular, Specify | Evidence of vascular damage;Thrombi identified in blood vessels | Evidence of vascular damage;Thrombi identified in blood vessels | Alphanumeric |
Only answered if "Perivascular" is answered for "Inflammation" |
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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| C17900 | Age presentation year value | AgePresentYearVal | Age (in years) of participant/subject at presentation | Age (in years) of participant/subject at presentation | Age at presentation | Numeric Values | 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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| C12271 | Western Blot assay performed name | WstBlotAssyPerfName | Name(s) of the assay performed | Name(s) of the assay performed | List the Western Blot assays performed and corresponding results | 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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| C12234 | Preservation technique used amount value | PresrvtnTechnqUseAmntVal | Value of the amount of preservation solution or material used to preserve the specimen | Value of the amount of preservation solution or material used to preserve the specimen | Amount | Alphanumeric |
Answer for the freezing or fixation technique used. Answer should be recorded in milligrams (mg). If amount used is not known, select Not known. |
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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| C12524 | Inflammation severity status | InflamSeverStat | Severity of Inflammation muscle diagnostic abnormalities | Severity of Inflammation muscle diagnostic abnormalities | Inflammation | 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12249 | Biopsy and Autopsy histochemical stains diagnostic abnormalities present type | BpApHschmStnDiagnAbnrmlyPrsTyp | The diagnostic abnormalities present on the histochenmical stains for the participant's/subject's tissue | The diagnostic abnormalities present on the histochemical stains for the participant's/subject's tissue | Which of the following diagnostic abnormalities were noted on histochemical stains? | Fatty replacement;Endomysial fibrosis;Myofiber degeneration;Myofiber regeneration;Abnormalities of fiber type;Hypertrophic fibers;Atrophy/Hypotrophy;Myopathy-associated pathological structures;Inflammation;Abnormal storage material | Fatty replacement;Endomysial fibrosis;Myofiber degeneration;Myofiber regeneration;Abnormalities of fiber type;Hypertrophic fibers;Atrophy/Hypotrophy;Myopathy-associated pathological structures;Inflammation;Abnormal storage material | 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 |
Multiple Pre-Defined Values Selected |
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| C12261 | Biopsy and autopsy inflammatory cell type | BpApInflamCellTyp | Type of inflammatory cells identified | Type of inflammatory cells identifie | Inflammatory cells identified | Lymphocytes;Neutrophils;Macrophages;Eosinophils | Lymphocytes;Neutrophils;Macrophages;Eosinophils | Alphanumeric |
Only answered if "Inflammatory cells identified" is answered for "Inflammation". Choose all that apply. |
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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| 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 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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| C12272 | Western Blot result | WesternBlotReslt | Result of the assay(s) performed | Result of the assay(s) performed | Result | Alphanumeric |
Units are dependent on the assay performed |
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 | 255 |
Free-Form Entry |
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| C12235 | Histochemical stains used type | HistchmclStainUseTyp | Type of standard histochemical stains used on the tissue specimen | Type of standard histochemical stains used on the tissue specimen | Which standard histochemical stains were used? | H and E;Congo red;Masson trichrome;Myelin stain, specify;Microorganism stains, specify;Other, specify;anti-PGP 9.5;Gomori trichrome;NADH;SDH/COX;PAS;Oil Red O;ATPase 4.3;ATPase 4.6;ATPase 9.4 | H and E;Congo red;Masson trichrome;Myelin stain, specify;Microorganism stains, specify;Other, specify;anti-PGP 9.5;Gomori trichrome;NADH;SDH/COX;PAS;Oil Red O;ATPase 4.3;ATPase 4.6;ATPase 9.4 | 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 |
Multiple Pre-Defined Values 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 | Abnormalities of fiber type | 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 | 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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| C12251 | Biopsy and autopsy atrophy or hypotrophy type | BpApAtrphyHypotrphyTyp | Atrophy/ hypertrophy type | Atrophy/ hypotrophy type | Atrophy/Hypotrophy | All fibers within the specimen;Subset of fibers, leading to excessive variation in fiber size;Atrophic/hypertrophic fiber shape | All fibers within the specimen;Subset of fibers, leading to excessive variation in fiber size;Atrophic/hypertrophic fiber shape | Alphanumeric |
Only answered if "Atrophy/Hypotrophy" 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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| C12262 | Biopsy and autopsy microorganisms name | BpApMicroorgName | Name of microorganisms identified in biopsy or autopsy specimen | Name of microorganisms identified in biopsy or autopsy specimen | Microorganisms identified, specify which | Alphanumeric |
Only answered if "Microorganisms identified" is answered for "Inflammation" |
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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| C17902 | Elevated creatine kinase value | ElevatCreatinKinasVal | The elevated creatine kinase value | The elevated creatine kinase val | Elevated creatine kinase | Numeric Values | 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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 |
hour | |||||||||
| 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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| 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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| 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 |
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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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| 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 |
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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 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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| 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 |
Free-Form Entry |
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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 |
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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 |
Free-Form Entry |
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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 |
Free-Form Entry |
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| 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 |
Free-Form Entry |
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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 |
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| 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 |
Free-Form Entry |
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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 |
Free-Form Entry |
centimeter | |||||||||
| C12517 | Fatty replacement severity status | FttyReplcmntSeverStat | Severity of the Fatty replacement muscle diagnostic abnormalities | Severity of the fatty replacement muscle diagnostic abnormalities | Fatty replacement | 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| 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 Biopsy and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
