CDE Detailed Report

Disease: Spinal Muscular Atrophy
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
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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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

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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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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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.).

No references available Adult;Pediatric Core 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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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"

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

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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

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

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

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

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"

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

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

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.

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

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

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

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

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"

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

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

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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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

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

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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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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?"

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

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

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

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.

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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

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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

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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 spaces. 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

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

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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

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milligram
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

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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

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

C12261 Biopsy and autopsy inflammatory cell type BpApInflamCellTyp Type of inflammatory cells identified. Type of inflammatory cells identified. 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

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

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

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

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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

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

C17902 Elevated creatine kinase value ElevatCreatinKinasVal The elevated creatine kinase value. The elevated creatine kinase value. 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

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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

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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

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

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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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

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

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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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

No instructions available

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Single Pre-Defined Value Selected

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

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

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

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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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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Single Pre-Defined Value Selected

CSV