Date of birth of the individual, as given on birth certificate or as reported by the individual or their parent. Although registries must collect the full date of birth (see the item Full date of birth), only the year and month will be requested by the TREAT-NMD Global Registry.
| Item type: | date |
| Related items in previous version: | 2.00 |
| Usage in other datasets: | DMDLGMD |
Current biological sex of the individual.
| Item type: | single selection |
| Related items in previous version: | 2.05 |
| Usage in other datasets: | DMDLGMD |
| Value ID | Description |
|---|---|
| Male | Male |
| Female | Female |
| Intersex | Intersex |
| Unspecified | There is no sex specified on the pertinent document (e.g. birth certificate, passport or identity card) |
In version 2.0, the value Intersex was added.
ISO 3166-1 alpha-2 two-letter code (e.g. GB for the United Kingdom) of the most recent known primary country of residence of the individual.
| Item type: | restricted text |
| Related items in previous version: | 2.12 |
| Usage in other datasets: | DMDLGMD |
In version 2.0, it was clarified that the ISO 3166-1 two-letter code is to be used.
Specifies whether any genetically related family member of the individual has received a relevant diagnosis as defined below. As long as the value is No, registries should ask the data provider at each update to verify if this has changed.
This item refers to a diagnosis of 5q SMA.
| Item type: | yes/no |
| Consistency rules: | In case an instance of the record |
| Related items in previous version: | 2.20 |
In version 2.0, it was clarified that only genetically related family members are to be considered.
In version 2.1, it was clarified that this item refers to a diagnosis of 5q SMA.
For each genetically related family member with 5q SMA, an instance of this record should be provided specifying the kinship.
| Related items in previous version: | 2.21 |
In version 2.0, item 2.21 from version 1 was replaced by this record in which the relation, the sex and the sex of the intermediate family member are split into separate items.
In version 2.1, it was clarified that this item refers to a diagnosis of 5q SMA.
Relation of the affected family member to the individual.
| Item type: | single selection |
| Related items in previous version: | 2.21 |
Sex of the affected family member. If there is no information on this family member's sex, this value should be left empty (Unspecified is for cases in which no sex has been assigned or recorded in the civil registry).
| Item type: | single selection |
| Related items in previous version: | 2.21 |
| Value ID | Description |
|---|---|
| Male | Male |
| Female | Female |
| Intersex | Intersex |
| Unspecified | There is no sex specified on the pertinent document (e.g. birth certificate, passport or identity card) |
Side of the family. For example, for an affected uncle, this value must be Male if he is the individual’s father’s brother and Female if he is the individual’s mother’s brother. For an affected grandchild, this value must be Male if the grandchild is a son’s child, and Female if it is a daughter’s child. For an affected niece, this value must be Male if she is the individual’s brother’s child and Female for their sister’s child. For an affected cousin, this value must correspond to the sex of the individual’s parent in the relation (for example, if the affected cousin is the niece or nephew of the individual’s mother, this value must be Female).
| Item type: | single selection |
| Consistency rules: | If |
| Related items in previous version: | 2.21 |
| Value ID | Description |
|---|---|
| Male | Male (e.g. paternal or fraternal) |
| Female | Female (e.g. maternal or sororal) |
| Intersex | Intersex (the intermediate family member in the relation is an intersex person) |