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Bonnevie-Ullrich Syndrome (CUI C1527168) Suggest changes to this concept
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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
Bonnevie-Ullrich syndrome
Status Bonnevie Ullrich
Status Bonnevie-Ullrich

External Source Codes: 
NCI Thesaurus Code C34434 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T037622 MSH
TERMUI T430012 MSH
TH NLM (1997) MSH
TH NLM (2002) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C1527168

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