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Antley-Bixler Syndrome Phenotype (CUI C2350233) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C2350233

Semantic Type: Disease or Syndrome

MSH Definition: An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).

Synonyms & Abbreviations: (see Synonym Details)
Antley Bixler Syndrome Phenotype
Antley-Bixler Syndrome Phenotype [Disease/Finding]
Antley-Bixler Syndrome Phenotype
Phenotype, Antley-Bixler Syndrome
Syndrome Phenotype, Antley-Bixler

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
DC 1 MSH
DX 20090101 MSH
FX D009251 MSH
FX D051497 MSH
HN 2009 MSH
MDA 20080708 MSH
MESH_DEFINITION An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2). NDFRT
MESH_DUI D054882 NDFRT
MESH_NAME Antley-Bixler Syndrome Phenotype NDFRT
MESH_UI M0508592 NDFRT
MMR 20130708 MSH
MN C05.116.099.370.894.115 MSH
MN C05.660.906.181 MSH
MN C16.131.621.906.181 MSH
MN C16.320.565.925.324 MSH
MN C18.452.648.925.324 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000181272 NDFRT
PM 2009 MSH
RXAUI 3286705 RXNORM
RXAUI 3286706 RXNORM
RXCUI 1031627 RXNORM
TERMUI T702505 MSH
TH NLM (2009) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C2350233

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