Date on which the individual received the diagnosis.
This item refers to a diagnosis of DMD or BMD.
| Item type: | date |
| Related items in previous version: | 6.01, 6.02 |
| Usage in other datasets: | sNMD |
Method(s) used to establish the initial diagnosis.
This item refers to the initial diagnosis of DMD or BMD.
| Item type: | multiple selection |
| Related items in previous version: | 6.03, 6.04 |
| Value ID | Description |
|---|---|
| Genetic | Genetic/molecular test |
| Physical examination | Physical examination |
| Muscle biopsy | Muscle biopsy |
| Biomarkers | Biomarkers |
Specifies whether the diagnosis has been genetically confirmed. If the genetic test results are pending, the value must be No.
This item refers to a diagnosis of DMD or BMD. If the value is Yes, the results must be captured in one or more instances of the record Genetic report.
| Item type: | yes/no |
| Consistency rules: | Must be |
| Related items in previous version: | 1.05 |
| Usage in other datasets: | sNMD |
| Item type: | single selection |
| Related items in previous version: | 1.05 |
| Usage in other datasets: | sNMD |
| Value ID | Description | Classification |
|---|---|---|
| DMD | Duchenne muscular dystrophy | |
| BMD | Becker muscular dystrophy |
Specifies whether the diagnosis was made as a result of screening.
This item refers to a diagnosis of DMD or BMD.
| Item type: | single selection |
| Related items in previous version: | 6.11 |
| Usage in other datasets: | SMA |
All information collected in this record should be extracted from the genetic report and confirmed with a geneticist if necessary.
Exon copy number variations (CNV) in the DMD gene specified using the syntax described in the following examples:
del ex45-49dup ex2-7tri ex51dup ex2-7 and dup ex45-49Please see the guidelines for curators on mutation entries in DMD registries for more information.
| Item type: | restricted text |
Description of the variant according to HGVS nomenclature.
The variant described here must be located in the DMD gene.
| Item type: | restricted text |
| Related items in previous version: | 6.07 |
| Usage in other datasets: | SMALGMD |
Testing method used to obtain the genetic result.
Registries may add an additional free-text field in their data collections forms to capture possible methods other than the ones provided in this item; values in the free-text field should be checked by a curator and mapped to the provided values wherever possible. New methods may be added to the dataset by TREAT-NMD whenever appropriate.
This item refers to the testing method used to obtain the result provided in DMD variant HGVS.
| Item type: | single selection |
| Related items in previous version: | 6.08 |
| Usage in other datasets: | SMASMASMA |