CDE Detailed Report

Disease: Duchenne Muscular Dystrophy/Becker Muscular Dystrophy
Sub-Domain: 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 Additional Notes (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 / Guideline) Sub Domain 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

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Multiple Pre-Defined Values Selected

C12273 Biopsy and autopsy normal immunoreactivity assay name BiopsyAutpsyNormImmuAssayName Name of the normal immunoreactivity assay used Normal immunoreactivity that were noted on the immunohistochemical stains. Assays with normal immunoreactivity Alphanumeric

No instructions available

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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
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C12252 Biopsy and autopsy fiber size variation result type BpApFibSizeVariResltTyp Distribution of the atrophic fibers. Distribution of the atrophic fibers. 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

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Multiple Pre-Defined Values Selected

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

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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

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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, respectively. 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

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 stains. Assays with reduced immunoreactivity Alphanumeric

No instructions available

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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

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Single Pre-Defined Value Selected

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
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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"

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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?"

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hour
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"

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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

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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

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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"

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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?"

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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 abnormally. 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/subject Tissue specimen name collected from the participant/subject Tissue collected Alphanumeric

No instructions available

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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"

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Single Pre-Defined Value Selected

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"

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Multiple Pre-Defined Values Selected

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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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"

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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 nuclei. Specify estimated percent of fibers (include eccentric nuclei) Numeric Values

Only answered if "Central nuclei" is answered for "Myopathy-associated pathological structures"

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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
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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.
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centimeter
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: excess Oil Red O+ material easily seen on light microscopy clear on stains H and E. Mild lipid storage pathology difficult to determine at light microscopic level, may only appear on Oil Red O stain or electron microscopy. Specify severity Mild;Severe Mild;Severe Alphanumeric

Only answered if "Excessive intracellular lipid" is answered for "Abnormal storage material"

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Single Pre-Defined Value Selected

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

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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.

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C12530 Biopsy autopsy COX-negative fibers estimated count BpApCOXNegFibEstCt COX-negative fibers estimated number COX-negative fibers estimated number COX-negative fibers, Estimated number Alphanumeric

Only answered if "COX-negative fibers" is answered for "Myopathy-associated pathological structures"

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C12256 Biopsy and autopsy eccentric nuclei estimated fibers percent value BpApEccNucEstFibPrcntVal Estimated percent of fibers in eccentric nuclei. Estimated percent of fibers in eccentric nuclei. Specify estimated percent of fibers (if not quantified above) Numeric Values

Only answered if "Eccentric nuclei" is answered for "Myopathy-associated pathological structures"

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C12230 Tissue specimen collection date and time TissSpecmnCollctnDateTime Date (and time if applicable and known) when the tissue specimen was collected Date when the tissue specimen was collected Date of tissue collection Date or Date & Time

Record the date/time according to the ISO 8601, the International Standard for the representation of dates and times (http://www.iso.org/iso/home.html). The date/time should be recorded to the level of granularity known (e.g., year, year and month, complete date plus hours and minutes, etc.).
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C12267 Biopsy and autopsy liver biopsy autopsy results BpApLivBpApReslt The results of the liver biopsy The results of the liver biopsy Liver biopsy performed, Describe results Alphanumeric

Only answered if "Liver biopsy performed" is answered for "Abnormal storage material"

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C12518 Endomysial fibrosis severity status EndomysFibroSeverStat Severity of the Endomysial fibrosis muscle diagnostic abnormalities Severity of the Endomysial fibrosis muscle diagnostic abnormalities Endomysial fibrosis Mild;Moderate;Severe Mild;Moderate;Severe Alphanumeric

No instructions available

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Single Pre-Defined Value Selected

C12243 Microscopy epon embedded tissue abnormality type MicscpyEponEmbedTissAbnrmlyTyp Type of microscopy employed to view abnormalities in epon-embedded tissue specimen Type of microscopy employed to view abnormalities in epon-embedded tissue specimen Abnormalities seen on Light microscopy (Toluidine blue staining);Electron microscopy;Both - light microscopy and electron microscopy Light microscopy (Toluidine blue staining);Electron microscopy;Both - light microscopy and electron microscopy Alphanumeric

No instructions available

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Single Pre-Defined Value Selected

C12531 Biopsy autopsy excessive glycogen severity result BpApExessGlycoSeverReslt Severe glycogen storage pathology involves excess PAS+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild glycogen storage pathology is difficult to determine at the light microscopic level and may only be evident on PAS stain or electron microscopy. Severe glycogen storage pathology has excess PAS+ material easily seen on light microscopy, evident on stains H and E. Mild glycogen storage pathology difficult to determine at light microscopic level, may only appear on PAS stain or electron microscopy. Excessive glycogen Specify severity Mild;Severe Mild;Severe Alphanumeric

Only answered if "Excessive glycogen" is answered for "Abnormal storage material"

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Single Pre-Defined Value Selected

C12257 Biopsy and autopsy nemaline rod type BpApNemaRodTyp Rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations Rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations Nemaline rods, Specify Restricted to one fiber type;Nuclear rods present Restricted to one fiber type;Nuclear rods present Alphanumeric

Only answered if "Nemaline rods" is answered for "Myopathy-associated pathological structures"

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Single Pre-Defined Value Selected

C12231 Laboratory name LabName Name of laboratory where assessment was performed Name of laboratory where assessment was performed Name of laboratory where pathology was performed Alphanumeric

Record the laboratory name where pathology was performed

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C12268 Immunohistochemical stain used muscle biopsy and autopsy type ImmhistchmclStnUseMuscBpAp Which immunohistochemical stains were used on muscle biopsy? Which immunohistochemical stains were used on muscle biopsy? Which immunohistochemical stains were used? Myosin immunohistochemistry;Dystrophin panel;Other stains for limb-girdle or congenital muscular dystrophy;Inflammatory myopathy panel Myosin immunohistochemistry;Dystrophin panel;Other stains for limb-girdle or congenital muscular dystrophy;Inflammatory myopathy panel Alphanumeric

Choose all that apply. If dystrophin panel, Other stains for limb-girdle or congenital muscular dystrophy, or Inflammatory myopathy panel were answered for "Which immunohistochemical stains were performed?", specify stains used.

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Multiple Pre-Defined Values Selected

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

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Single Pre-Defined Value Selected

C12245 Symptom presentation type SymptmPresentTyp Symptoms participant/ subject shows at presentation Symptoms participant/ subject shows at presentation Symptoms at presentation Weakness;Hypotonia (floppiness);Muscle pain;Cardiac disease;Central nervous system disease;Unknown Weakness;Hypotonia (floppiness);Muscle pain;Cardiac disease;Central nervous system disease;Unknown Alphanumeric

Check all that apply.

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Multiple Pre-Defined Values Selected

C17898 Laboratory director unknown indicator LabDirectorUnknownInd Indicator of unknown laboratory director Indicator of unknown laboratory director Name of laboratory director 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

C12258 Biopsy and autopsy central cores type BpApCentrlCoreTyp The composition of the central cores. The composition of the central cores. Central cores, Specify Structured;Unstructured Structured;Unstructured Alphanumeric

Only answered if "Central cores" is answered for "Myopathy-associated pathological structures"

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Single Pre-Defined Value Selected

C12232 Laboratory director name LabDirectorName Name of laboratory director where assessment was performed Name of laboratory director where assessment was performed Name of laboratory director Alphanumeric

No instructions available

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C12269 Biopsy and autopsy immunohistochemical immunofluorescence assays performed BpApImnhschmImnflrsncAssyPerf List of stains used List of stains used Immunohistochemical/ Immunofluorescence assays performed Alphanumeric

List the stains used based upon answers in question 3

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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

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C12247 Biopsy and Autopsy tissue collection method type BpApTissCollMethdTyp The type of method used for collection of the tissue specimen The type of method used for collection of the tissue specimen Biopsy method Punch biopsy;Blister biopsy;Open biopsy;Open;Needle Punch biopsy;Blister biopsy;Open biopsy;Open;Needle Alphanumeric

No instructions available

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Single Pre-Defined Value Selected

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

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 focused around blood vessels, diffuse inflammation spread across muscle tissue. Inflammatory cells identified: lymphocytes, neutrophils, macrophages, eosinophils. At times, microorganisms can be identified, should be mentioned. 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?"

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Single Pre-Defined Value Selected

CSV