| Name | Steward Organization | Suggested Domain | Suggested Domain Description | Cde Group | Classification |
|---|---|---|---|---|---|
| Hereditary disorder connective tissue diagnosis type | NINDS | Disease characterization |
Including Alzheimer's Disease (AD)/AD-Related Dementias (ADRD) diagnosis and multiple chronic conditions (MCCs) |
NIH CDEs |
|
| # | Datatype |
|---|---|
|
|
Value List |
| # | Permissible value | Value meaning name | Value meaning definition |
|---|---|---|---|
|
|
Associated conditions | Associated conditions | Associated conditions |
|
|
Classical EDS | Classical EDS | Classical EDS (type I & II – skin features) |
|
|
EDS – mild classical vs. hypermobile | EDS – mild classical vs. hypermobile | EDS – mild classical vs. hypermobile (borderline skin findings) |
|
|
Evidence of possible HDCT | Evidence of possible HDCT | Evidence of possible HDCT (Unknown/Unspecified) |
|
|
Hypermobile EDS | Hypermobile EDS | Hypermobile EDS (type III – absence of skin features) "Benign joint hypermobility" |
|
|
Loeys-Dietz Syndrome | Loeys-Dietz Syndrome | Loeys-Dietz Syndrome (hypertelorism, bifid uvula, aneurysms) |
|
|
Marfan | Marfan | Marfan (AS/Ht > 1.05, pectus ab, aortic dil., dural ectasia, ectopia lentis) |
|
|
MASS phenotype | MASS phenotype | MASS phenotype (myopia, mitral valve prolapse, aortic dil., skin & skeletal features) |
|
|
Stickler Syndrome | Stickler Syndrome | Stickler Syndrome (collagen type 2 or 11, myopia, hearing loss, osteoarthritis, cleft palate) |
| # | Definition |
|---|---|
|
|
The type related to hereditary disorder of connective tissues. |
| # | Designation |
|---|---|
|
|
Hereditary disorder connective tissue diagnosis type |
| # | Identifier | Origin | Version |
|---|---|---|---|
|
|
HereDisConnTissDiagTyp | BRICS Variable Name | N/A |
|
|
QymgUU7eBRM | NLM CDEs | 12-02-2025-download |
|
|
C22775 | NINDS | 1 |