Hereditary disorder connective tissue diagnosis type

General Details:

Name:
Hereditary disorder connective tissue diagnosis type
Steward:
NINDS
Definition:
The type related to hereditary disorder of connective tissues.
Registration Status:
Qualified

Permissible Values:

Data Type:
Value List
Unit of Measure:
Ids:
Value Code Name Code Code System Code Description
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)
Hypermobile EDS Hypermobile EDS Hypermobile EDS (type III – absence of skin features) "Benign joint hypermobility"
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)
Loeys-Dietz Syndrome Loeys-Dietz Syndrome Loeys-Dietz Syndrome (hypertelorism, bifid uvula, aneurysms)
Evidence of possible HDCT Evidence of possible HDCT Evidence of possible HDCT (Unknown/Unspecified)
Associated conditions Associated conditions Associated conditions

Designations:

Designation:
Hereditary disorder connective tissue diagnosis type
Tags:

Designations:

Definition:
The type related to hereditary disorder of connective tissues.
Tags:

Identifiers:

Source:
NLM
Id:
QymgUU7eBRM
Version:
1.1
Source:
NINDS
Id:
C22775
Version:
1
Source:
BRICS Variable Name
Id:
HereDisConnTissDiagTyp
Version: