| Name | Steward Organization | Suggested Domain | Suggested Domain Description | Cde Group | Classification |
|---|---|---|---|---|---|
| Gene mutation detected result type | NINDS | Biomarkers, genetics, and genomics |
Biomarkers, genetics, and genomics relevant to AD/ADRD |
NIH CDEs |
|
| # | Datatype |
|---|---|
|
|
Value List |
| # | Permissible value | Value meaning name | Value meaning definition |
|---|---|---|---|
|
|
Digenic (mutations in more than one gene) | Digenic (mutations in more than one gene) | Digenic (mutations in more than one gene) |
|
|
Hemizygous | Hemizygous | Hemizygous |
|
|
Heterozygous – only one allele identified | Heterozygous – only one allele identified | Heterozygous – only one allele identified |
|
|
Heterozygous – two alleles identified | Heterozygous – two alleles identified | Heterozygous – two alleles identified |
|
|
Homozygous | Homozygous | Homozygous |
|
|
No mutation detected | No mutation detected | No mutation detected |
| # | Definition |
|---|---|
|
|
Type of gene mutation detected |
| # | Designation |
|---|---|
|
|
Gene mutation detected result type |
| # | Identifier | Origin | Version |
|---|---|---|---|
|
|
C12785 | NINDS | 3 |
|
|
GeneMutDetectedResltTyp | BRICS Variable Name | N/A |
|
|
uavvq9FFaEK | NLM CDEs | 12-02-2025-download |