|Terms & Properties|
Concept Unique Identifier (CUI): C1527168
NCI Thesaurus Code: C34434 (see NCI Thesaurus info)
Semantic Type: Disease or Syndrome
Semantic Type: Congenital Abnormality
NCIt Definition: A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.
MSH Definition: This syndrome that was originally observed by Ullrich, and designated as identical to TURNER SYNDROME, related the webbing of the neck, loose skin and other anomalies of the syndrome to accumulation of fluid in the embryo starting at the head and dispersing to the extremities (as observed by Bonnevie in mice). Commonly observed at birth in Turner Syndrome and NOONAN SYNDROME; EDEMA of the extremities usually recedes by one year and is an early sign of Turner syndrome, especially in female neonates.
Synonyms & Abbreviations: (see Synonym Details)
|Bonnevie Ullrich Syndrome|
|Status Bonnevie Ullrich|
External Source Codes:
|NCI Thesaurus Code||C34434 (see NCI Thesaurus info)|
Additional Concept Data: (none)