CDE Detailed Report
Disease: Congenital Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue
Displaying 101 - 150 of 166
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue
Displaying 101 - 150 of 166
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C19909 | Biopsy and autopsy nuclear bags clumps status | BpApAutoNucBagsClumpStat | The status as related to presence of nucelar bags/clumps | The status as related to presence of nucelar bags/clumps | Nuclear bags/clumps | Absent;Present | Absent;Present | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
milligram | ||||||||
| C19941 | Biopsy and autopsy distribution type | BpApDistrTyp | Type of distribution of inflammation | Type of distribution of inflammation | Distribution | Perivascular;Focal;Diffuse;Endomysial;Involving fascia;Perimysial | Perivascular;Focal;Diffuse;Endomysial;Involving fascia;Perimysial | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies 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 | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C19973 | Immunohistochemistry neuronal nitric oxide synthase status | IHCnNOSStat | The status of neuronal nitric oxide synthase in immunohistochemistry | The status of neuronal nitric oxide synthase in immunohistochemistry | nNOS | Absent;Reduced;Normal | Absent;Reduced;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19920 | Biopsy and autopsy central cores status | BpApCentralCoreStat | Central cores status in biopsy | Central cores status in biopsy | Central cores | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies 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 | Specify | All fibers within the specimen;Subset of fibers, leading to excessive variation in fiber size;Atrophic/hypertrophic fiber shape;Nuclear bags/clumps;Perifascicular distribution | All fibers within the specimen;Subset of fibers, leading to excessive variation in fiber size;Atrophic/hypertrophic fiber shape;Nuclear bags/clumps;Perifascicular distribution | 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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19952 | Immunohistochemistry dystrophin rod domain status | IHCDysRodDomStat | The status of dystrophin rod domain (DYS1) in immunohistochemistry | The status of dystrophin rod domain (DYS1) in immunohistochemistry | Dystrophin rod domain (DYS1) | Absent;Reduced;Cytoplasmic;Normal | Absent;Reduced;Cytoplasmic;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19888 | Age biopsy year value | AgeBiopsyYearVal | Age (in years) of participant/subject at biopsy | Age (in years) of participant/subject at biopsy | Age at biopsy | Numeric Values | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
year | |||||||||||
| C19984 | Immunohistochemistry CD138 percentage value | IHCCD138PercentVal | Percent value of C138 | Percent value of C138 | Present in | Numeric Values | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | |||||||||
| C19995 | Immunohistochemistry ubiquitin aggregate level status | IHCUbiquitinAggregLvlStat | Level of ubiquitin aggregate | Level of ubiquitin aggregate | Myotilin | Normal;Increased | Normal;Increased | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19931 | Biopsy and autopsy tubular aggregates estimated percentage value | BpApTubAggEstCt | Tubular aggregates estimated percentage value | Tubular aggregates estimated percentage value | Moderate (present in:) | Numeric Values | No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | ||||||||
| 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 |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C19963 | Immunohistochemistry beta dystroglycan status | IHCBetaDystroglyStat | The status of Beta dystroglycan in immunohistochemistry | The status of Beta dystroglycan in immunohistochemistry | Beta dystroglycan | Absent;Reduced;Normal | Absent;Reduced;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19899 | Elevated C reactive protein value | ElevatCReactProtVal | The elevated C-reactive protein value | The elevated C-reactive protein value | Patient Value | Numeric Values |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C19910 | Biopsy and autopsy trichome red inclusions status | BpApRedInclusTrichStat | Red inclusions on trichome status | Red inclusions on trichome status | Red inclusions on trichome | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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;Other, specify;NADH;SDH/COX;Oil Red O;ATPase 4.3;ATPase 4.6;ATPase 9.4;Acid phosphatase;Phosphorylase;Phosphofructokinase;Sudan black;SDH;COX;Esterase;Gomori trichrome;Myoadenylate deaminase;PAS | H and E;Other, specify;NADH;SDH/COX;Oil Red O;ATPase 4.3;ATPase 4.6;ATPase 9.4;Acid phosphatase;Phosphorylase;Phosphofructokinase;Sudan black;SDH;COX;Esterase;Gomori trichrome;Myoadenylate deaminase;PAS | Alphanumeric |
Choose all that apply |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19942 | Biopsy and autopsy granulomas type | BpApGranTyp | Type of granulomas of inflammation | Type of granulomas of inflammation | Granulomas | Necrotizing;Non-necrotizing;Giant cells present;Foreign material present | Necrotizing;Non-necrotizing;Giant cells present;Foreign material present | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies 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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C19974 | Immunohistochemistry inflammatory mypoathy panel stain type | InflamMyoPanImmStainTyp | Type of inflammatory myopathy panel used | Type of inflammatory myopathy panel used | Inflammatory myopathy panel | CD3;CD45;CD4;CD8;CD20;CD138;CD68;C5b-9;Major histocompatibility complex | CD3;CD45;CD4;CD8;CD20;CD138;CD68;C5b-9;Major histocompatibility complex | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19985 | Immunohistochemistry CD45 presence status | IHCCD45PresStat | The status of the presence of CD45 in immunohistochemistry | The status of the presence of CD45 in immunohistochemistry | CD45 | Absent;Present | Absent;Present | Alphanumeric |
If present; specify the percent of lymphocytes |
Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19921 | Biopsy and autopsy central cores estimated percentage value | BpApCentralCoreEstCt | Central cores estimated percentage value | Central cores estimated percentage value | Moderate (present in:) | Numeric Values | No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | ||||||||
| 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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19953 | Immunohistochemistry dystrophin C terminus status | IHCDysCTerminStat | The status of dystrophin C terminus (DYS2) in immunohistochemistry | The status of dystrophin C terminus (DYS2) in immunohistochemistry | Dystrophin C terminus (DYS2) | Absent;Reduced;Cytoplasmic;Normal | Absent;Reduced;Cytoplasmic;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19889 | Symptom presentation weakness distribution type | SymptmPresentWeakDisTyp | Weakness distribution symptoms participant/ subject shows at presentation | Weakness distribution symptoms participant/ subject shows at presentation | Weakness (distribution) | Asymmetrical;Symmetrical;Proximal;Distal;Limb girdle;Facioscapulohermal;Neck;Paraspinal;Finger flexion;Other, specify | Asymmetrical;Symmetrical;Proximal;Distal;Limb girdle;Facioscapulohermal;Neck;Paraspinal;Finger flexion;Other, specify | Alphanumeric |
Check all that apply. |
No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19996 | Biopsy and autopsy additional immunohistochemical assays performed text | BpApAddImmhistchmAssPerText | Specify any additional immunohistochemical/immunoflourescence assays performed | Specify any additional immunohistochemical/immunoflourescence assays performed | Additional immunohistochemical/immunoflourescence assays performed | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C00035 | Gender type | GenderTyp | Self-reported gender of the participant/subject | Self-reported gender of the participant/subjec | Gender of Patient | Alphanumeric |
Choose one. Response is obtained by report of the participant/subject or caretaker. |
The NIH Guidelines on Inclusion of Women and Minorities as Subjects in Clinical Research: The Office of Management and Budget Directive No. 15 (http://grants.nih.gov/grants/funding/women_min/guidelines_update.htm) | Adult;Pediatric | Core | 3.00 | 2013-08-28 16:08:00.453 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
2200604 | |||||||||
| C19932 | Biopsy and autopsy ring fibers status | BpApRingFibStat | Ring fibers status in biopsy/autopsy | Ring fibers status in biopsy/autopsy | Ring fibers | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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 size | Abnormal shape;Abnormal location, specify;Abnormal numbers;Abnormal architecture;Abnormal size | 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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19964 | Immunohistochemistry alpha sarcoglycan status | IHCAlpSarcoglyStat | The status of Alpha sarcoglycan in immunohistochemistry | The status of Alpha sarcoglycan in immunohistochemistry | Alpha sarcoglycan | Absent;Reduced;Normal | Absent;Reduced;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19900 | Laboratory findings autoantibody known text | LabFinAutoAntiKnownText | Text of the known autoantibodies in patient | Text of the known autoantibodies in patient | Known autoantibodies in patient | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C19911 | Biopsy and autopsy trichome red inclusions estimated percentage count | BpApRedInclusTrichEstCt | Red inclusions on trichome estimated percentage value | Red inclusions on trichome estimated percentage value | Moderate (present in:) | Numeric Values | No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
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 | Nuclei;Contractile apparatus;Sarcotubular organization;Mitochondria, specify;Basal lamina;Satellite cells;Intramuscular nerve twigs | Nuclei;Contractile apparatus;Sarcotubular organization;Mitochondria, specify (choose all that apply);Basal lamina;Satellite cells;Intramuscular nerve twigs | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19943 | Biopsy and autopsy intramuscular nerve branche status | BpApIntramusNervBranchStat | The status of the presence of intramuscular nerve branches | The status of the presence of intramuscular nerve branches | Intramuscular nerve branches | Absent;Present | Absent;Present | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12529 | Biopsy and autopsy ragged red fibers estimated count | BpApRggdRdFibEstCt | Ragged red fibers estimated number | Ragged red fibers estimated number | Moderate (present in:) | 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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C19975 | Immunohistochemistry CD3 presence status | IHCCD3PresStat | The status of the presence of CD3 in immunohistochemistry | The status of the presence of CD3 in immunohistochemistry | CD3 | Absent;Present | Absent;Present | Alphanumeric |
If present; specify the percent of lymphocytes |
Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19986 | Immunohistochemistry CD45 percentage value | IHCCD45PercentVal | Percent value of CD45 | Percent value of CD45 | Present in | Numeric Values | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | |||||||||
| C19922 | Biopsy and autopsy minicores status | BpApMinicoreStat | Minicores status in biopsy | Minicores status in biopsy | Minicores | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value 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" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19954 | Immunohistochemistry dystrophin N terminus status | IHCDysNTerminStat | The status of dystrophin N terminus (DYS3) in immunohistochemistry | The status of dystrophin N terminus (DYS3) in immunohistochemistry | Dystrophin N terminus (DYS3) | Absent;Reduced;Cytoplasmic;Normal | Absent;Reduced;Cytoplasmic;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19890 | Symptom presentation weakness distribution other text | SymptmPresentWeakDisTypOTH | The free-text field to describe other symptoms participant/ subject shows at presentation | The free-text field to describe other symptoms participant/ subject shows at presentation | Other | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies 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 | Supplemental-Highly Recommended | 3.00 | 2013-07-24 11:38:01.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19933 | Biopsy and autopsy ring fibers estimated percentage value | BpApRingFibEstCt | Ring fibers estimated percentage value | Ring fibers estimated percentage value | Moderate (present in:) | Numeric Values | No references available | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | ||||||||
| C12517 | Fatty replacement severity status | FttyReplcmntSeverStat | Severity of the Fatty replacement muscle diagnostic abnormalities | Severity of the fatty replacement muscle diagnostic abnormalities | Fatty infiltration | 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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19965 | Immunohistochemistry beta sarcoglycan status | IHCBetaSarcoglyStat | The status of Beta sarcoglycan in immunohistochemistry | The status of Beta sarcoglycan in immunohistochemistry | Beta sarcoglycan | Absent;Reduced;Normal | Absent;Reduced;Normal | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19901 | Imaging electromyography findings status | ImgEMGFindStatus | Status of the electromyography (EMG) findings of patient | Status of the electromyography (EMG) findings of patient | EMG findings | Not known;Myopathic;Neuropathic | Not known;Myopathic;Neuropathic | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19912 | Biopsy and autopsy rimmed vacuoles status | BpApRimmVacStat | Rimmed vacuoles status in tissue | Rimmed vacuoles status in tissue | Rimmed vacuoles | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies 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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19944 | Biopsy and autopsy intramuscular nerve branche type | BpApIntramusNervBranchTyp | Type of intramuscular nerve branches | Type of intramuscular nerve branches | Specify | Decreased axonal density;Increased endoneurial fibrosis;Abnormality of myelination;Abnormal structures;Muscle spindles | Decreased axonal density;Increased endoneurial fibrosis;Abnormality of myelination;Abnormal structures;Muscle spindles | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-09 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12530 | Biopsy autopsy COX-negative fibers estimated count | BpApCOXNegFibEstCt | COX-negative fibers estimated number | COX-negative fibers estimated number | Moderate (present in:) | Alphanumeric |
Only answered if "COX-negative fibers" is answered for "Myopathy-associated pathological structures" |
No references available | Adult;Pediatric | Supplemental | 3.00 | 2013-07-25 08:54:08.2 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
